Genetics & Public Policy Center Reports Summaries

From WikiGenetics

Ever since the early 2000's, the Genetics & Public Policy Center has surveyed the public on various topics surrounding genetics and health. They have put together a series of reports that summarize and analyze the data that they collected. Below are the summaries of each of the center reports.

Contents 1 The Genetic Town Hall: Public Opinion About Research on Genes, Environment, and Health 1.1 Introduction 1.2 Key Results 1.3 Returning Individual Results 1.4 Effect of the Genetic Information Nondiscrimination Act (GINA) 2 U.S. Public Opinion on Uses of Genetic Information and Genetic Discrimination 2.1 Introduction 2.2 Key Findings 3 Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories 3.1 Introduction 3.2 Key Findings 3.3 Major Issue 3.4 Conclusion 4 IVF, Egg Donation, and Women's Health 4.1 Introduction 4.2 Key Findings 4.3 Ovarian Cancer 4.4 Breast Cancer 4.5 Endometrial Cancer 4.6 Priorities for future research 5 Creating a genetic testing specialty under CLIA: What are we waiting for? 5.1 Introduction 5.2 Responses to NOI 6 Values in Conflict: Public Attitudes on Embryonic Stem Cell Research 6.1 Introduction 6.2 Scientific and Policy Environment 6.3 Survey Findings 6.4 Conclusion 7 Human Germline Genetic Modification: Issues and Options for Policymakers 7.1 Introduction 7.2 The Science of HGGM 7.3 Safety, Ethics and the Public View 7.4 Options for Policymakers 7.5 Conclusion 8 Cloning: A Policy Analysis 8.1 Introduction 8.2 The Science of Cloning 8.3 Arguments Against Human Cloning 8.4 Arguments in Support of Human Cloning 8.5 International Oversight 8.6 Federal Oversight 8.7 State Oversight 8.8 U.S. Public Opinion 9 IMAGN! Increasing Minority Awareness of Genetics Now! 9.1 Agenda Items 9.2 Race and Genetics 9.3 What's in the genes? Genetic variation and race - Aravinda Chakravarti 9.4 Lessons from the past - genes and justice - Troy Duster 9.5 Survey of African American Attitudes Toward Genetics – Kathy Hudson 9.6 Genes, Reproduction, and the Black Community – Dorothy Roberts 9.7 Audience Comments and Questions 9.8 Summation – Patricia King 10 The Genetic Town Hall: Making Every Voice Count 10.1 Summary Report 10.2 Sacramento City Report 10.3 Seattle City Report 10.4 Kalamazoo City Report 10.5 Fort Worth Report 10.6 New York City Report 10.7 Nashville City Report 11 Reproductive Genetic Testing: What America Thinks 11.1 Introduction 11.2 Public Awareness and Knowledge 11.3 Perceptions about Appropriate Uses 11.4 Views about Embryos and Fetuses 11.5 Implications for Individuals, Families and Society 11.6 Accuracy and Safety 11.7 Oversight of Reproductive Genetic Testing 12 Reproductive Genetic Testing: Issues and Options for Policymakers 12.1 Introduction 12.2 Reproductive Genetic Testing: A Scientific and Medical Overview 12.3 Lessons from the Past 12.4 Prenatal Testing 12.5 Current Issues in Prenatal Screening and testing 12.6 Preimplanation Genetic Diagnosis 12.7 Current Legal and Regulatory Landscape 12.8 Policy Options 12.9 What More Do We Need to Know? 13 Public Awareness and Attitudes about Reproductive Genetic Technology 13.1 Introduction 13.2 Awareness and Knowledge about Reproductive Genetic Testing 13.3 Acceptance of Genetic Technology 13.4 Attitude Trends 13.5 Experience with Genetic Technology 13.6 Privacy 13.7 Support for Regulation 14 Preimplantation Genetic Diagnosis: A Discussion of Challenges, Concerns, and Preliminary Policy Options Related to the Genetic Testing of Human Embryos 14.1 What is PGD? 14.2 Overview of Challenges and Concerns 14.3 Federal Oversight of PGD 14.4 State Oversight of PGD 14.5 Professional Organization Oversight of PGD 14.6 Should PGD be Allowed at All? 14.7 Federal Oversight 14.8 State Oversight 14.9 Non-Governmental Approaches 14.10 Addressing the Safety, Accuracy and Effectiveness 14.11 Research and Data Collection 15 References 16 External Links

[edit] The Genetic Town Hall: Public Opinion About Research on Genes, Environment, and Health

[edit] Introduction

In September of 2006, the Genetics & Public Policy Center was awarded funding from the NHGRI Institute of NIH to study the American public’s attitudes toward a proposed large-cohort research study of genetic and environmental contributors to health. The project, led by The Public Consultation Project on Genetics, Environment and Health, began with 16 focus groups in six locations. The focus groups were shown a video explaining the proposed large-cohort study which would collect genetic samples and data from up to 500,000 US residents. The genetic samples would be used for research at the NIH and volunteers would be contacted for updates on their health periodically for up to 10 years. Researcers’ findings would become part of the NIH databank. The focus groups and subsequent individual interviews led to the next and primary phase of the project – a national survey and series of town halls; participants were asked whether or not the study should be done and what factors would influence these people to participate.

The five town halls were held from March – May 2008 in Jackson, Mississippi; Kansas City, Missouri; Philadelphia, Pennsylvania; Phoenix, Arizona; and Portland, Oregon. Each town hall ranged from 76 to 134 participants each. The town halls were free.

Participants used electronic keypads to vote and workbooks to note their thoughts down throughout the town halls to maintain anonymity.

[edit] Key Results

Participants were asked to consider the potential benefits and drawbacks of the study, participating in the creation of a national biobank. The top benefits and burdens area listed below:

Benefits:

• Cure and prevention of disease
• Increased Knowledge
• Disease Prevention
• Eliminate hereditary
• More precise treatment of specific illnesses
• Improve chances for prevention
• Better prevention will decrease health care costs
• Educating the public about environmental causes of disease
• Good data for scientists to consider
• Eradicating disease
• Identifying contributing factors to disease

Burdens:

• Abuse of information by insurance companies
• Lack of laws to protect participants’ privacy
• Possibility of future genetic manipulation
• Insurance companies would discriminate
• Claims or coverage denied by insurance companies based on information
• Personal privacy
• Security of information
• No real way to ensure privacy
• Possible discrimination based on genetic information

Participants were asked to consider what types of research should and should not be done with the information collected by the proposed study.

Acceptable research:

• Research aimed at curing disease; disease affecting large numbers of individuals should be top priority.
• Identifying environmental factors that cause disease
• Cloning aimed at regenerating organs

Unacceptable research:

• Human cloning
  • Reproductive cloning
  • Research aimed at altering humans or creating “designer babies

[edit] Returning Individual Results

• This was one of the most heavily discussed topics during the focus groups.
• 91 % of survey respondents indicated they would want information about their individual health risks even if there was nothing they could do about them.
• Participants who wanted their results to be returned argued that if they are giving a piece of their physical being for the purposes of research, they have the right to receive all information about them.
• The opposing argument is that subjects should recognize that the study’s purpose is to generate knowledge for the common good, and individuals should participate out of altruism rather than a desire to obtain results.
• Other counterarguments include results not being returned because study data could not be anonymized fully if results were to be returned and that taxpayers should not bear the extra costs of returning results to the indivdual.
• At the end of the discussion on return of results, more than 70.7% of participants responded “yes” to the question, “Balancing your desire for this information with all of these concerns, do you think the study should try and give this information back?”

The moderator asked, “If I were to make you king or queen for the day, what policies would you put in place for this type of study to be successful?”

Top Policy Needs:

• Guarantee you cannot be denied healthcare
• Guarantee process of collection and storing (ensure safety)
• Limit/restrict access to the data
• Funding to allow up on results of research (e.g., treatment options for participants)
• Provide everyone with access to research benefits
• Feed profit from research results into government programs for citizens (e.g., Social Security)
• Require research findings to be public
• Provide insurance to research participants
• Protect privacy
• Report lethal or harmful findings to subject

Comparison of intial and closing impression

Question: Based on what you just learned, do you think this study should be done?

	Pre Town Hall	Post Town Hall
Yes	87%	79%
No	13%	21%

Question: Would you participate?

	Pre Town Hall	Post Town Hall
Yes	66%	61%
No	34%	39%

* It is interesting to note that in every city except Phoenix, support for the study and willingness to participate declined modestly between the beginning and end of the town hall meetings. This may be indicative of the fact that the reasons for (and expected benefits of) the study were laid out in the video before the initial vote, while individuals became aware of the potential drawbacks in the discussion.

[edit] Effect of the Genetic Information Nondiscrimination Act (GINA)

• GINA passed the U.S. Senate on April 24, 2008 (the day of the fourth town hall, in Portland).
• Despite media coverage of the bill’s passage, no change in the level of concern about privacy and discrimination between the first three town halls and the final two were found. Privacy and possible misuse of information continued to be among participants’ top concerns.

Summary and PDF Link

[edit] U.S. Public Opinion on Uses of Genetic Information and Genetic Discrimination

Genetics & Public Policy Center Public Health at Risk: U.S. Public Opinion on Uses of Genetic Information and Genetic Discrimination Published in 2007

[edit] Introduction

Genetics & Public Policy Center launched an 18-question survey to a random sample of 1,832 U.S. adults 18 years or older. The survey was conducted between 2/27/07 and 3/4/07 and 1,199 people responded for a 65% completion rate. The purpose of the survey was to measure public acceptance of the use of genetic testing for medical and non-medical purposes and gauge support or lack of support for laws that would protect individuals from some forms of genetic discrimination.

[edit] Key Findings

• The majority of Americans support genetic testing for research and health care.
• 92% of Americans expressed concern that results of a genetic test that tells a patient whether he or she is at increased risk for a disease could be used in harmful and/or discriminatory ways.
• Three of every four Americans support a law forbidding genetic discrimination by health insurers and employers.
• At least 68% of all genders, racial/ethnic groups, ages, and levels of education and household income supported laws against employment and health insurance discrimination based on genetic information.
• Majorities said that they would trust doctors and genetic researchers to have access to genetic test results.
• One in four persons said they would trust health insurers with their genetic information.
• 16% of respondents said they would trust employers with his or her genetic test results.

More specific percentages:

• 93% of researchers support the use of genetic testing to find new ways to diagnose, prevent or treat disease.
• 93% of doctors support the use of genetic testing to identify a person’s risk of having a bad reaction to a particular medicine.
• 91% of doctors support the use of genetic testing to identify a person’s risk of a disease where treatment or medication exists.
• 86% of doctors support the use of genetic testing to identify a person’s risk of having a child with a serious genetic condition.
• 79% of doctors support the use of genetic testing to identify a person’s risk of a disease where no treatment or medication exists.
• 19% of employers support the use of genetic testing to make decisions about hiring and promotion.
• 15% of health insurance companies support the use of genetic testing to determine whom to insure or how much to charge.

Summary and PDF Link

[edit] Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories

Genetics & Public Policy Center Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories Published in 2006

[edit] Introduction

During the 1990s, in anticipation of the “genetic revolution,” several government advisory bodies considered what regulatory changes would ensure the smooth transition of genetic testing from research to practice. One of the key recommendations was that the Centers for Medicare and Medicaid Services (CMS) create regulations under The Clinical Laboratories Improvement Amendments of 1988 (CLIA) that focused specifically on genetic tests through a new “specialty.”

In July 2006, CMS decided not to issue a regulation for a genetic testing specialty. CMS claims that creating a specialty lacks sufficient “criticality” to warrant rulemaking and that existing regulations are adequate. Genetics & Public Policy Center argues that CMS is wrong and that a CLIA specialty is “central to the goal of ensuring the accuracy and reliability of genetic tests that are used to make important, indeed profound, life decisions.” Furthermore, Genetics & Public Policy argues “an inaccurate test result can lead to ill-informed decisions with tragic consequences, and to wasted healthcare resources.”

It was congressional intent that the Department of Health and Human Services (HHS) was to require laboratories to participate in proficiency testing for each type of clinical test they performed unless it was found that no proficiency test could be developed nor implemented. Congress also intended for results of proficiency tests to be transparent; the results were supposed to be available for public view along with information regarding the findings. Proficiency testing is mandated for microbiology, diagnostic immunology, chemistry, hematology, cytology and immunohematology.

[edit] Key Findings

• With the exception of cytology, no information regarding laboratory performance on proficiency testing is available on CMS’s web site nor is information provided to the public or healthcare providers regarding how to request the information.
• HHS’s implementation of CLIA for genetic testing has been inadequate. No specialty or subspecialty for molecular or biochemical genetics has been established.
• A limited number of proficiency-testing programs exist for molecular and biochemical tests, but enrollment in these programs is not mandated under CLIA.
• According to results from a recent survey conducted by the Genetics & Public Policy Center, 16% of genetic testing laboratories have no specialty certification at all, including a third of high-volume genetic testing laboratories.
• 57 comments from the public were submitted to the government on CLIA. The overwhelming majority supported the recommendation to create a genetic testing specialty for molecular and biochemical genetic tests as a means to promote their reliability, accuracy and quality.

[edit] Major Issue

In September 2005, CMS wrote in a letter to the Genetics & Public Policy Center that they would propose to add a specialty category for genetic testing. In December of 2006, CMS proved that it had shifted course and had abandoned the effort. The Government Accountability Office (GAO) brought attention to the discovery that there were serious deficiencies on the part of companies providing direct-to-consumer “nutrigenetic” testing. According to the GAO, some of the laboratories performing the genetic testing were not CLIA certified and had returned incorrect test results to consumers.

[edit] Conclusion

Quoted directly from the study: “Thus, a decade-long saga has returned to where it began, having consumed substantial taxpayer dollars and produced no meaningful changes to ensure the quality of laboratories performing genetic testing.”

** Note: This was a very complex piece so I apologize if this is not very clear; the actual study contains additional data on genetic testing laboratory errors and on opinions on oversight.

Summary and PDF

[edit] IVF, Egg Donation, and Women's Health

IVF, Egg Donation, and Women’s Health

July 14, 2006

[edit] Introduction

When this paper was written, more than one million babies have been born worldwide as a result of IVF and in 2003 U.S. fertility clinics reported 112,872 IVF cycles. While medical literature exploring the possible health effects in babies born from this technology exist, the potential health risks to the women who undergo this procedure is less extensively studied.

“This paper explores what is and what is not known about the risks of ovarian stimulation and oocyte retrieval, for both a perspective mother and a prospective egg donor.”

The piece acknowledges that more conclusive data is needed.

[edit] Key Findings

Short-Term Risks

• Primary known short-term risk is ovarian hyperstimulation syndrome (OHSS). OHSS brings severe and sudden health risks to the patient, ranging from mild symptoms of abdominal discomfort to renal failure and death.
• All women who undergo ovarian stimulation are at risk for OHSS.
• A 1996 study by Sauer et al found that fewer than 2% of oocyte donors developed severe OHSS following a standard stimulation cycle, less than the rate of OHSS among IVF patients, which ranges from 2% to 50%. It has been suggested that the development of OHSS is directly related to the human chorionic gonadotropin (HCG) hormone.
• OHSS broken down into three categories: Mild, Moderate and Severe
  • Mild OHSS – associated with minimal pain and other mild symptoms; is often regarded as an acceptable endpoint of the controlled ovarian hyperstimulation.
  • Moderate OHSS – involves abdominal pain, bloating, nausea and diarrhea. Fluid shifts are only detectable with an ultrasound. Hospital management is suggested to prevent further escalation of the problem.
  • Severe OHSS – fluid shifts are apparent in the abdomen and throughout the body tissues and organs. Symptoms include severe abdominal bloating, distention and pain, shortness of breath, abnormally low blood pressure and high pulse rate. Massive shift in volume out of the blood vessels and into the surrounding tissue results in impaired organ function, especially in the liver and kidney.

Treatment of OHSS

• Supportive therapy for decreased blood volume and organ dysfunction
• New drug protocols to decrease the risk of OHSS. Ex: gonadotropin releasing hormone (GnRH) antagonists. This blocks cellular receptors and prevents an initial hormone surge thought to induce OHSS.
• Withholding the administration of HCG to trigger final oocyte maturation before retrieval.
• Recent discovery of a gene that codes for the Follicle Stimulating Hormone (FSH) receptor. This may provide important predicative information about an individual’s response to ovarian stimulation drugs and allow better dosing to prevent OHSS.

Long-Term Risks

• Studies have followed women who have undergone ovarian stimulation and oocyte retrieval for long periods of time to assess whether there is an increased risk for gynecological malignancies such as ovarian, breast, or endometrial cancer. Most of these studies have been collected from infertile women who are going through IVF.
• Regardless of the purpose of the procedure, infertile women may be at greater risk for long-term health issues, such as gynecological cancers. Thus, it is unclear whether the risks identified in women undergoing IVF may be translatable to fertile women going through ovarian stimulation and oocyte donation.
• Some studies have identified a positive association between using clomiphene citrate (used for ovulation induction) and malignancies, both gynecologic and non-gynecologic.
• A 2005 review of nearly 100 studies examining this topic found that while some studies had shown a link between ovarian stimulation drugs and cancer risk, many of these studies had significant shortcomings.
• Two later studies revealed that there is no clear evidence that infertility treatment causes cancer but additional data is necessary to thoroughly investigate the issue.

Quick Summaries of individual cancer risk with fertility drugs

[edit] Ovarian Cancer

• No conclusive link between fertility drugs and ovarian cancer
• Has been proposed that the gonadotropins used might have induced the growth of already existing borderline tumors and that these women, because of their increased awareness of health issues, are more likely to be diagnosed at an earlier stage.

[edit] Breast Cancer

• Studies are conflicting; some suggest an increased breast cancer risk, others do not.
• Burkman’ s study found that in general, infertility drugs not associated with breast cancer, but did find that women who used specific hormone, human menopausal gonadotropin (hMG) for at least six treatment cycles or months, had a two to three-fold increased risk of breast cancer.
• Like with ovarian cancer, any increased incidence of breast cancer may be linked with the effects of fertility agents on an existing tumor that may be detected earlier because of a patient’s increased awareness of an attention to her health.

[edit] Endometrial Cancer

• Data not as robust as it is for ovarian and breast cancer.
• Though there is evidence that there is a two-fold increase in relative risk of endometrial cancer among clomiphene users, this same trend was not noted among IVF patients.
• Most cohort studies have not identified an increase risk of endometrial cancer specifically with IVF agents. However, some have identified an increased risk of endometrial cancer as more of a function of long-term unopposed estrogen exposure.

There is evidence that infertile women have a greater risk of gynecologic malignancies than fertile women; this may not be directly related to fertility drugs. One study found a 23% increased risk of cancer among infertile women.

• Limited research into any link between infertility treatment and the risk of non-gynecologic cancers. A 20-year retrospective study of the risk of classically hormone-sensitive, non-gynecologic malignancies – including thyroid cancer, colon cancer, and malignant melanoma – found that there was little to no association of these specific cancers and common ovulation stimulating drugs. Link between infertility drugs and medical conditions such as hypertension, diabetes, uterine fibroids and pelvic pain have not been examined. There have been case reports but no formal studies of women being treated with GnRH agonist Luperon who have reported symptoms of musculoskeletal weakness and pain, depression, memory impairment, loss of libido and other psychological conditions.

[edit] Priorities for future research

• Reducing the risks of OHSS without impaired pregnancy rates and developing the means to identify women who are at an increased risk of OHSS before initiating treatment.
• Long-term evaluation of larger populations of women who have undergone infertility treatment, with more accurate information about the patients’ specific infertility treatments.
• Studies examining the long-term health outcomes of women undergoing ovarian stimulation and oocyte retrieval for oocyte donation as compared with women undergoing IVF.

Summary and PDF Link

[edit] Creating a genetic testing specialty under CLIA: What are we waiting for?

Genetics & Public Policy Center Creating a Genetic Testing Specialty Under CLIA: What Are We Waiting For? Published 2005

[edit] Introduction

In May 2000, the CDC published a notice of intent (NOI) in the Federal Register requesting public comment on the recommendation to create a genetic specialty under CLIA. The NOI requested public opinion on:

• The definition of genetic testing
• The role of the laboratory director in documenting clinical validity
• Who should be authorized to order a genetic test
• Whether the laboratory should be responsible for documenting a patient’s informed consent
• Whether additional procedures are needed to protect patient confidentiality
• Whether more stringent personnel qualifications were needed to ensure genetic test quality
• Whether the recommended additions to the general requirements for preanalytic, analytic, and postanalytic phases of testing were appropriate

[edit] Responses to NOI

• CDC received 57 responses
  • 20 from academic laboratories
  • 18 from professional organizations
  • 8 from state and federal government agencies
  • 5 from commercial laboratories
  • 5 from manufacturers /industry
  • 2 from trade organizations
  • 2 from miscellaneous groups or individuals
• General Reaction to Creation of Genetic Testing Specialty:
  • 93% of respondents supported the recommendation to create a genetic testing specialty for molecular and biochemical genetic tests
  • 9 out of the 57 respondents explicitly affirmed that the creation of a specialty would help ensure that genetic testing is of high quality
  • 45 respondents accepted the creation of a genetic specialty and focused their comments on other aspects of the NOI
  • 3 respondents opposed the creation of a genetic specialty, asserting that “genetic testing should not be regulated differently than other testing.” ** None of the objectors were from clinical laboratories
• Respondents’ view on NOI’s definitions
  • NOI’s definitions of two new genetic testing specialties:
    • Molecular and cytogenetic tests: analysis performed on human DNA, RNA, and chromosomes to detect heritable or acquired disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Includes predicting risk of disease, identifying carriers, and establishing prenatal or clinical diagnoses or prognoses in individuals, families, or populations.
    • Biochemical genetic test: analysis of human proteins and certain metabolites, which is predominately used to detect inborn errors of metabolism, heritable genotypes, or mutations for clinical purposes. Purposes include predicting risk of disease, identifying carriers, and establishing prenatal or clinical diagnoses or prognoses in individuals, families, or populations.
• Most respondents said the definitions needed further clarification and refinement. Some said they were “too broad” or “unclear.”
  • Some opposed combining “cytogenetic” and “molecular genetic testing” under one heading
  • Some were concerned that the inclusion of the word “phenotype” was unnecessarily broad
  • Some laboratories performing biochemical testing were concerned that the new rules would conflict with existing specialty areas under CLIA and that the proposed specialty would encompass more general tests that do not fit under the realm of genetic disease prediction, diagnosis, or management.
• The NOI did not specify where the data used to establish clinical validity should come from, resulting in the issue of the laboratory director’s role in documenting clinical validity contentious.
  • 40% of the respondents argued that documentation of clinical validity was not required of laboratory directors overseeing other testing specialty areas and was beyond the scope of the laboratory and the laboratory director’s responsibility.
  • Other commentators did not categorically oppose a role for laboratory directors, but thought it should be limited to reviewing and documenting existing data published in the medical and scientific literature.
  • 12% of respondents said there was a role for the laboratory director to document clinical validity
  • 47% had no comment on whether or not it was the laboratory director’s role to document clinical validity.
• The NOI asked for comments regarding whether genetic testing is sufficiently different to require a new federal guideline to define who is authorized to order a genetic test.
  • 18% of respondents answered yes, genetic testing is sufficiently different to require a new federal guideline… while 32% answered no, genetic testing is not sufficiently different.
  • The main point expressed by those who said “no” was that the current CLIA regulations were adequate.
• The NOI asked for comments regarding whether the laboratory should be required to document that the patient’s informed consent has been obtained by an authorized person for certain genetic tests or types of tests. The failure to define the word “certain” led to confusion.
  • One respondent said the wording was fraught with ambiguity
  • 72% of respondents stated that the responsibility for obtaining patient informed consent rests with the provider ordering the test for the patient.
  • 7% believed that the lab was the appropriate place to regulate consent.
  • The 21% that did not express an opinion represented mainly professional or trade organizations that did not perform direct clinical laboratory testing.
• Issue of confidentiality: NOI included recommendations that laboratories have a policy in place to protect the confidentiality of test results, and asked for comments regarding whether additional policies were necessary to enhance the confidentiality of certain genetic test information or if the current CLIA confidentiality policies were sufficient. ** IMPORTANT to note that the NOI was published prior to HIPAA.
  • 51% of respondents opposed adding additional processes; some opponents argued that if additional measures were necessary, CLIA was not the appropriate vehicle to implement them. (This is interesting! Why don’t they think CLIA is the appropriate institution to do this?)
  • 7% supported additional measures with one expressing the view that “additional language to protect confidentiality would be a good idea.”
  • 42% did not take a position regarding confidentiality
• Genetic Counseling: NOI proposed that under the new genetic specialty, genetic counselor’s responsibilities expand to provide genetic counseling to the laboratory’s clients and that board-certified genetic counselors be added to the category of clinical consultant. NOI asked whether laboratories should be required to provide genetic counseling services.
  • More than half the respondents opposed this proposal
  • Three respondents favored the recommendation
  • 39% had no comment
• Preanalytic, Analytic, Postanalytic: NOI had recommendations regarding preanalytic, analytic, and postanalytic phases of testing, addressing laboratory personnel requirements and responsibilities, reuse of tested samples, ordering of additional tests, the content of test requisitons, quality control and patient test management, analytic validation, clinical validation, proficiency testing, reporting requirements, and record and sample retention.
• FEEDBACK:
  • 25 comments addressed recommendations for an increase in the amount of training and expertise in genetic testing required for the laboratory director, technical supervisor, general supervisor, and clinical consultant.
  • The NOI’s recommendation that patient consent be required before a laboratory could re-use a patient specimen for the purpose of quality assurance and quality control drew sharp criticism, arguing that it would restrict the lab’s ability to ensure test quality and improve testing.
  • Consensus that de-identification of samples was a reasonable requirement to re-use samples, but that requiring consent under these circumstances was infeasible and unreasonable.

Summary and PDF

[edit] Values in Conflict: Public Attitudes on Embryonic Stem Cell Research

Genetics & Public Policy Center Reports Values in Conflict: Public Attitudes on Embryonic Stem Cell Research Published 2005

[edit] Introduction

Survey of 2,212 Americans (representative of entire US population) about awareness and approval/disapproval of embryonic stem cell (ESC) research done in September 2005

[edit] Scientific and Policy Environment

Stem cells found in adult tissues, umbilical cord blood and embryos can give rise to new cells and specialized cells. Embryonic stem cells may be able to develop into all adult human cell types, while adult stem cells (found in certain adult tissues) can develop only into the cell type of the tissue they are in. If human embryonic cells are isolated and grown in a Petri dish 5-7 days after fertilization, they may be able to retain their stem cell abilities, which gives them the potential to catalyze medical research, therapies and cures. However, ESCs can currently only be created by destroying embryos. What is the moral status of a human embryo?

• Embryos should not be destroyed for any purpose
• Only embryos that remain after in vitro fertilization may be used for research
• It is necessary to destroy embryos in order to develop cures and therapies

[edit] Survey Findings

Awareness

• 81% said they had heard of ESC research
• 72% correctly identified the picture of a one-week embryo

Approval

• Majority (67%) of respondents approve/strongly approve ESC research
• Women more likely than men to disapprove/strongly disapprove ESC research
• Democrats more likely that Republicans to approve/strongly approve ESC research (75% vs 55%)
• Race and ethnicity did not have significant difference in approval/disapproval of ESC research
• People with at least a college degree were twice as likely than people without degree to strongly approve of ESC research
• Vast majority of all religious groups, except Fundamentalist and Evangelical Christians, approve ESC research. Fundamentalist and Evangelical Christians were about 50-50 for approval-disapproval of ESC research. However, Fundamentalist and Evangelical Christians were 10x more likely to strongly disapprove than people with no religious affiliation
• People with no religious affiliation and non-Christians were most approving of ESC research

Conflicting Values For the survey, respondents were asked 5 questions: 3 that addressed protecting embryonic life and 2 that addressed supporting ESC research.

• 6% of respondents strongly approved of protecting embryos and strongly disapproved of research
• 6% of respondents strongly disapproved of protecting embryos and strongly approved of research
• 52% of respondents had mixed answers—protecting embryos and supporting research
• 61% of respondents reported that “all in all” conducting research was more important than protecting embryos.

Policy Preferences

• 16% want more restrictive policy (protect embryo life) than current policy
• 22% support current human embryonic stem cell policy, which allows federal funding for research using ESCs created before Aug 2001
• 59% support policies that allow more ESC research than the current policy

After being presented 2 hypothetical scenarios in which ESC research catalyzes a treatment for diabetes and a new method of ESC research does not require destruction of embryos, respondents generally said that they would prefer more permissive policies.

More than Moral Status

• 28% gave one-week-old embryo in Petri dish maximum moral status
• 30% gave no/low moral status

People who gave one-week-old embryo in Petri dish maximum moral status were more likely to disapprove of ESC research. However, 36% of people who gave embryo maximum moral status also approved of ESC research. 17% of people who gave embryo low/no moral status did not approve of ESC research.

Intent vs. Use A distinction is often made between using embryos remaining after IVP and using embryos made solely for research.

• 60% of respondents said that they do not see a moral difference between using IVF embryos and using those created for research
• Respondents were about 50-50 for approval-disapproval of research using embryos created for research

[edit] Conclusion

Despite the common depiction of extreme polar debate over ESC research and protection of human embryos, the public opinion survey yielded wide support for ESC research that encompassed different ethnicities, religions, political parties and economic classes. A majority of people supported more relaxed federal policy regarding ESC research. Additionally, even though the moral status of human embryos has often been the center of debate, responses to the survey indicate that believed moral status is not the only decisive factor in whether a person opposes ESC research or not.

Summary and PDF Link

[edit] Human Germline Genetic Modification: Issues and Options for Policymakers

Human Germline Genetic Modification: Issues and Options for Policymakers Published in 2005

[edit] Introduction

Human Germline Genetic Modification (HGGM) refers to techniques that strive to create permanent inheritable genes in future offspring by changing the genetic makeup of one individual. Modern technological barriers in stem cell research have led scientists to be able to genetically modify mice sperm cells as well as human embryotic stem cells. While this new technology is noteworthy, there are concerns about the safety and ethics involved in HGGM. Unborn generations are not able to give consent for these changes and as a result may have health complications. Some questions about how it may negatively impact our species as a whole, beyond the family level. In the U.S., the FDA and the Recombinant DNA Advisory Committee (RAC) of NIH play a role in HGGM policy. The FDA has said that it would require an investigational new drug (IND) application to be filed before HGGM could be tested on humans while the RAC will not be considering any proposals. In 2004, the Genetics and Public Policy Center held a meeting, “Babies by Design: Policy Options for Human Germline Genetic Modification,” in order to explore the science and concerns of HGGM. What follows is a summary of the science, safety, ethics, oversight and options for policymakers.

[edit] The Science of HGGM

The purpose of introducing HGGM is to ultimately change the genetic sequence of an individual in order to enact genetic changes in future offspring. The process of HGGM has been enhanced and accepted as a result of successful studies in animals, human stem cell research and human somatic gene therapy techniques. HGGM requires modification of egg and sperm cells in order to ultimately give rise to early embryos with these genetic alterations. There are two uses of genome modifications related to HGGM. “Therapeutic” uses are health related and often seek to eradicate the possibility of a disease in future generations. “Enhancement” uses are associated with adding or changing characteristics or traits that are not related to disease such as height and muscle mass.

Three methods have been used to deliver new genes into target cells. The first method is by using a virus to infect the cell with the specific gene without causing a disease. It is also possible to introduce a gene into a cell without using a virus:

1. Direct microinjection of DNA segments into the nucleus of the cell
2. Electroporation: an electrical current on the cell induces a porous layer on the surface of the cell allowing entry of the DNA
3. Lipofection: the vector carrying the gene is enclosed into a fatty substance that can easily penetrate the cell’s outer later and be released into the cell
4. Transposable elements: segments of DNA that can be inserted into chromosomes

The final method to deliver new genes into target cells is by introducing an artificial chromosome with the gene. These are larger than the usual DNA vector and would have to exist along with the usual 46 chromosomes. Although this idea seams feasible, it has not yet been shown to work well in humans.

While currently it may not be possible to include HGGM as an effective method, gene targeting by homologous recombination and stem cell differentiation bring us closer to a successful model for HGGM. Challenges in gene modification include mosaicism, the situation in which cells of the resulting embryo are not unmodified which can occur if new genes become lost in the cell as they divide during development. Uncontrolled insertion of new genes whether it is introduced onto a different chromosome or too many copies inserted, improper gene function, accidental mutation of a healthy gene, failure to remove the original gene and separation of the new gene can all create unexpected problems.

[edit] Safety, Ethics and the Public View

While HGGM may one day be used for humans, there are many questions concerning the safety and ethics involved. No long-term effects of the development of the fetus have been studied. Serious health risks can occur if genes malfunction, genes are inserted into the wrong area of the genome (insertional mutagenesis), or if too many copies of the gene enter the genome. These unexpected consequences can lead to even worse health conditions or even death. For example, human somatic gene therapy clinical trials to correct X-chromosome linked severe combined immunodeficiency resulted in three patients being diagnosed with leukemia.

Cell damage in the ovaries and testes can create risks for parents as well. Injecting viral vectors into the testes have led to test subjects resulting in infertility. Infertility in females is also a real concern.

It is a widespread belief that we need more information on long-term effects before HGGM in implemented. However there is disagreement on how safe it needs to be and what level of success is necessary. Also, animal studies cannot always accurately predict the effect HGGM will have on humans. Some say that HGGM needs to be shown to have no more risk than the process of conception and birth. Others say that the risk should be no greater than if the child had the original genetic condition.

One of the most obvious concerns is the health risk for the subject who is not yet born. Researchers must obtain the consent of parents in order to proceed, but it is hard to know if parents truly understand the consequences that could come from HGGM. Some also believe that the parent’s consent is not enough to account for the right of the unborn individual. Once HGGM has been transferred to human subjects, multigenerational studies are necessary to study long-term effects but there is no way to be sure that future generations would be willing to participate in studies.

Information about the public’s view towards HGGM was collected from focus groups and interviews. Most members of the group indicated that they were interested in HGGM as an option for treatment and cures, but did raise concerns about the researchers and the extents that they will go to for fame and profit. Another concern was the use of HGGM as a modern form of eugenics, fearing that people with “ideal” genes will be more encouraged to use HGGM. In 2004, The Center’s survey of 4,834 Americans found that 57% approved of HGGM to avoid fatal childhood diseases while 19% approved of HGGM to create children with desirable “traits.”

[edit] Options for Policymakers

This article focuses on three strategies for policymakers. The first strategy is a ban on HGGM. Some believe that the risks of HGGM are far too great and the benefits are not worth the risks that would be taken. Congress or state legislature could pass a law prohibiting HGGM and enforcing penalties on those who study it. FDA involvement could include a policy restricting clinical research involving HGGM.

Regulation of HGGM and monitoring the safety and ethics involved is another method policymakers can use. The FDA can require strict review and approval of an IND for HGGM research. An advisory committee consisting of researchers, clinicians, patients and caregivers could be assigned to HGGM proposals.

Finally, policymakers can be more open to the idea of HGGM and encourage genetic innovation. Increased funding for research is the best way to advance HGGM knowledge and success rates.

[edit] Conclusion

The biggest concerns about HGGM are the safety, ethics and purpose of using HGGM. With what we know about HGGM today, it is not yet considered a safe or effective method of treatment for genetic disorders. Scientific developments suggest that in the future it may be possible, but further research and testing it necessary. For policymakers, it is necessary that they take into account what the public wants, viewpoints that have been ignored in the past, in order to create policy that reflects both the “experts” and the public.

Summary and PDF Link

[edit] Cloning: A Policy Analysis

Cloning: A Policy Analysis Published in 2005

[edit] Introduction

Cloning, or Somatic Cell Nuclear Transfer (SCNT), refers to the process of genetic duplication. The opinions of the public and the scientific community have opposed each other on this topic ever since cloning became feasible. There are many arguments for and against SCNT, which will be discussed later. There is currently no universal law regarding SCNT or stem cell research, but within the last 10 years, states have begun to enact laws explicitly addressing these issues. In 2004, the Genetics and Public Policy Center conducted a survey of 4,834 Americans about their opinions on reproductive genetic duplication. These surveys will also be summarized below.

There are three types of cloning that are generally addressed. In research cloning, embryonic cells are created and used to create embryonic stem cells, a process that results in the destruction of the embryo. These stem cells have identical nuclear DNA as the donated nucleus. Research cloning is typically used to help better understand the molecular mechanisms within cellular differentiation. In therapeutic cloning, stem cells are induced to differentiate into specific tissue cells, which would act as the source of the donated nucleus. Therapeutic cloning is thought to be one possible option to create tissues or organs for transplant. Reproductive cloning is used to create offspring with the same genetic makeup as the donor. This is done through implantation of an embryo in a uterus. Reproductive cloning is often the most controversial because of its failure rate in animal testing and the health risks that may affect the cloned individual.

[edit] The Science of Cloning

The process of SCNT entails removing the nucleus of a somatic cell and inserting that nucleus into an egg cell whose nucleus has been removed. The egg cell is then induced to divide and form an embryo. From the point, the cloned embryo can be grown to the blastocyst stage and harvested or transferred to a uterus. Successful gestation could result in an organism that contains identical DNA as the donor, but only about 1-4% of embryos produced this way have led to live births.

Cloned animals have a higher incidence of miscarriage or newborn death and experience a higher rate of birth defects and imprinting disorders. They tend to age faster and have shorter life expectancies.

While there have been no successes in animal cloning, scientists believe that cloning primates using SCNT will provide a better model for human cloning. This has been attempted but no pregnancies have been reported.

[edit] Arguments Against Human Cloning

• Reproductive cloning would lead to the destruction of human embryos: This raises the never-ending question of when does life begin? Does life exist within the human embryo? If so, then life is lost when these embryos are destroyed.
• Reproductive cloning would interfere with the natural order: Some believe that allowing cloning would be condoning substitution with “biological manufacturing of humans.”
• Reproductive cloning would violate human dignity: cloning may cause humans to be treated as commodities who can be manufactured instead of individuals
• Reproductive cloning would cause serious health risks: Animal has suggested that most cloned animal embryos that are implanted die before gestation is complete or are born with serious defects. Because multiple human eggs would be needed, some believe that cloning puts women at risk.
  • Safety is evaluated by (1) the potential morbidity and death of the fetus and the woman carrying the cloned fetus and (2) the risk to women donating the eggs
• Reproductive cloning would deprive the cloned individual of the "right to an open future": There is concern that a cloned child will lose the ability to develop as an independent individual as a result of genetic equivalence.
• Reproductive cloning may disturb the institute of marriage: Because the genetic makeup of the child would only reflect one parent, this may interrupt marital relationships.
• Reproductive cloning may harm parent-child relationships: Cloning may give parents the idea that they own their child and shift the relationship from one of wonder to one of control. Some also show concern that there will be confusion regarding legal parentage that will result from cloning.
• Reproductive cloning would lead to discrimination against cloned individuals: Identical genetic makeup of cloned person would be known to the parents and discoverable by others, such as employers and insurers.
• Reproductive cloning would decrease human diversity: Cloning will ultimately reduce the genetic diversity that occurs through sexual reproduction. This may result in heritable changes in the gene pool.

Some organizations that are active against any type of cloning include the American Association of Pro-Life Obstetricians and Gynecologists, the American Bioethics Advisory Commission and the Center for Bioethics.

[edit] Arguments in Support of Human Cloning

• Reproductive cloning would allow couples to have children genetically related to them who could not otherwise: Cloning may be used to produce biologically related children to parents in which one member of a couple carries a genetic mutation. Cloning would also allow for gay couples to produce genetically related children.
• Reproductive cloning should be permitted as part of procreative liberty
• There are alternatives to research and therapeutic cloning that would not require the destruction of human embryos: Adult stem cells and cord blood stem cells also provide the potential for research and therapeutic advances.
• Research cloning provides a unique capacity to conduct research on human diseases: SCNT will lead to the creation of stem cell lines that can help us learn about the fundamental mechanisms underlying the disease process.
• Therapeutic cloning may lead to alleviation of human suffering and cures for costly and debilitating diseases: SCNT-created embryos can lead to the creation of many beneficial therapies for degenerative disease such as tissue and organ transplant.

Some organizations that are active in supporting research cloning and/or reproductive cloning include the American Society for Reproductive Medicine, the Biotechnology Industry Organization and the Clone Rights United Front.

[edit] International Oversight

The United Nations Educational, Scientific, and Cultural Organization (UNESCO) released the Universal Declaration on the Human Genome and Human Rights, which argues that there is a complicated link between respect for the human genome and human dignity. It states that practices “contrary to human dignity” included applications of cloning with the intent to create a human being. Although there is widespread agreement among countries that cloning to produce a human is a threat to human dignity and poses serious medical, physical, psychological, and social dangers, there is disagreement about the acceptability of research cloning.

[edit] Federal Oversight

As of now, it is illegal to use federal funds to create a cloned human embryo, attempt to clone a human baby or derive stem cells from an embryo. In 1996, the Dickey-Wicker amendment enacted the prohibition of the use of federal funds for the “creation of a human embryo or embryos for research purposes,” and research “in which a human embryo or embryos are destroyed…” In August of 2000, final guidelines for oversight of funding for stem cell research were published. NIH was not allowed directly fund stem cells derivation. Stem cells could be derived only from embryos donated by patients of IVF clinics with informed consent. In August of 2001, President Bush announced that federal funds could not be used for research on any embryonic stem cells derived after August 9, 2001.

The FDA is responsible for the safety and effectiveness of a therapy in a human being. Before introducing stem cells into humans, a researcher would be required to submit an IND application to the FDA. They would need to specify the scientific basis for the investigation as well as the laboratory and animal data. FDA regulations also require that the researcher obtain IRB approval. The FDA would review the IND to determine if there was enough evidence of safety to support proceeding in humans.

[edit] State Oversight

State laws regarding cloning vary drastically from state to state. Five states have passed laws clearly prohibiting research, therapeutic and reproductive cloning: Arkansas, Iowa, Michigan, North Dakota and South Dakota. Virginia has passed a law that prohibits reproductive cloning, but has left the option of research and therapeutic cloning unclear. Michigan law forbids the attempt of human cloning, and defines human cloning as “the use of human somatic cell nuclear transfer technology to produce a human embryo.” This law imposes civil and criminal penalties of up to $10 million dollars as well as up to 10 years in prison for violation of the law.

Four states have permitted SCNT for research or therapeutic purposes, but not reproductive purposes: California, New Jersey, Rhode Island and Massachusetts. Rhode Island is the first state to separate the cloning issue into two constituent parts of reproduction and research. Enacted in 1998, the law states: “No person or entity shall utilize somatic cell nuclear transfer for the purpose of initiating or attempting to initiate a human pregnancy.” However, the law does not forbid “research practices” using SCNT or other technologies to clone molecules, DNA, cells, and tissues.

Other states, such as Missouri, Nebraska and Kentucky have no specific law regarding cloning. However, their laws specifically prohibit the use of state funds for cloning research.

[edit] U.S. Public Opinion

The wording of the surveys makes a significant difference of the responses. Some surveys use the word “cloning” while others use the phrase “somatic cell nuclear transfer” which generates more approval.

Many surveys indicate that a majority of Americans support research on stem cells derived from “extra” embryos donated by IVF clinics. In a survey conducted by the Juvenile Diabetes Research Foundation, 100 interviewers asked if participants would support stem cell research on donated embryos for a list of eight well-known diseases or injuries: 65% of respondents approved. In contrast, the National Council of Catholic Bishops conducted a survey in which they asked participants if they would “want their federal tax dollars to be used to destroy live embryos in the first week of development for experimentation:” 70% of opposed.

Genetics and Public Policy Center reports found that:

• 18% believe it is not yet scientifically possible to clone a human baby
• 38% said they do not know if it is scientifically possible
• 45% believed it is scientifically possible to produce a cloned human baby
• 56% believed that cloning a human embryo for research purposes is scientifically possible
• 35% said they do not know if it is possible
• 9% said they believe it is not possible
• 76% did not approve of cloning human embryos for research purposes
• 1/3 more men than women approved of cloning embryos for research purposes.
• A greater proportion of Democrats (27%) approved of research cloning compared to Republicans (18%).
• 88% disapproved of using cloning to create a human baby

***Note: There are very specific and interesting charts of public opinion from the report that are more complete than the data given in this summary***

Summary and PDF Link

[edit] IMAGN! Increasing Minority Awareness of Genetics Now!

Monday, October 4, 2004 One-day conference discussing the impact of new genetics on the black community

[edit] Agenda Items

• Welcome and Introduction
• What's in the Genes? - Genetic Variation and Race
• Lessons from the Past - Genes & Justice
• Survey of African American Attitudes Toward Genetics
• Luncheon: Genes, Reproduction and the Black Community
• Luncheon Address: Genes, Reproduction and the Black Community
• Panel Discussion
• Audience Comments and Questions
• Summation

[edit] Race and Genetics

• The Human Genome Project revealed that any two humans are 99.9% genetically identical.
• Researchers at the National Human Genome Research Institute (with the HapMap project) are studying the 0.1% difference in the human genome in part by comparing the differences in genomes between people of the major continental groups of Asia, Africa, and Europe.
• This type of research has in the past led to discrimination.

[edit] What's in the genes? Genetic variation and race - Aravinda Chakravarti

• Some gene variations show geographic patterns; however, human genetic variation is continuous and there are no sharp genetic boundaries that correspond to geographical boundaries or traditional concepts of race.
• Hap Map project investigates haplotypes across difference groups of people (Asian, Africa, European).
• The goals of the Hap Lap project are to improve and personalize medicines and treatments for disease.

[edit] Lessons from the past - genes and justice - Troy Duster

Compared the current state of genetics and genetic information with the earlier attempts to classify groups of humans.

• Classification of humans by physical traits and behaviors is problematic since genetic traits (things that originate inside the body) are mistakenly attributed to external features (things that come from outside the body).
• Racial profiling, police arrests based on race, is one example of modern society wrongly classifying people by combining inside- and outside-the-body characteristics.
• Explained example situations when dragnet, collecting DNA from all people that fit a suspect’s profile within a certain distance from the crime scene, had been ineffective due to race discrimination.

[edit] Survey of African American Attitudes Toward Genetics – Kathy Hudson

Survey taken of 4,834 Americans by the Center early in 2004 about American attitudes towards genetics, with a focus on reproductive genetic technologies.

• Total of 1,055 self-identified non-Hispanic blacks surveyed
• Results showed that blacks and whites equally are likely to approve of technologies such as prenatal genetic testing for health related uses, such as diagnosing fatal childhood disease.
• There was only a minute difference between whites and blacks (smaller than the difference between males and females) when measuring approval of certain reproductive medical technologies (available or not) that select non-health related traits.
• Blacks and whites are equally supportive of technological advances.
• Blacks are significantly less trustful than whites of scientists and what they will do with genetic information.
• Survey findings do not support that there is a race gap that leads to lesser pursuit of genetic testing and technologies based on race.

[edit] Genes, Reproduction, and the Black Community – Dorothy Roberts

• Historically, blacks have been left behind in all aspects of healthcare and are in danger of being left behind with reproductive genetic technologies.
• Reproductive technologies for blacks are usually welfare-based and generally aim to limit child bearing.
• Roberts suggests that social justice should become the center of equal healthcare conversations (rather than biology of racial differences), to have family planning come hand in hand with better overall healthcare for black Americans.
• Roberts suggests that the African American community implement its own testing program, similar to the Ashkenazi Jewish community.
• Roberts explains, “We cannot let advances in reproductive genetic technologies divert attention and resources from social change that is far more critical to the future of the black community and every community in America.”

===Afternoon Panel Session Judge Andre Davis, Dr. Francis Collins, Dr, Georgia Dunston, Dr. Carol Swain, Reverend Leslie Copeland Tune, Dr. Maya Rockeymoore===

• Dr. Dunston - the use of ‘races’ to describe humans is incorrect because ethnic human groups are genetically very similar. The differences in health disparities are due to the interaction between genetics and environment.
• Dr. Collins – race is not a biological construct, it is a social construct. While there is a small connection between genetics and self-identified race, it’s a “blurry surrogacy * Dr. Swain – social class and poverty is the main root of healthcare disparities, not necessarily race.
• Dr. Rockeymoore - healthcare is compromised due to income, education, technology, and economic gaps and adding genetics to the mix would not be good. We need to address all of these gaps.
• Judge Davis – science is being put to good use in the forensic criminal justice areas, but throwing resources at this new technology that would otherwise go to fix poverty, will only further entrench the impoverished.
• Dr. Tune – there are no clear-cut answers as to where religious institutions should position themselves on the issue of genetics.

[edit] Audience Comments and Questions

• How will genetic information affect justice?
• How will we prevent the misuse of DNA and genetic information?
• Answer = genetic non-discrimination legislation (aka GINA!)

[edit] Summation – Patricia King

• Genomic knowledge is dumped into a society that has many divisions (race, ethnicity, education) and society already has its biases and other stereotypes. How can genetics make society better? How can it make it worse?
• Science and society ought to be integrated though education, organization, and action.
• Genomic information does and will penetrate many different aspects of life (ie. understanding of family relationships and the workplace).
• Everyone can find some place where genetic information has some relevance with what you do every day.
• King mentions that BiDil could be a potential drug that would be efficacious to African Americans.
• Is it possible to use race to help African Americans? This is debatable

Summary and PDF Link

[edit] The Genetic Town Hall: Making Every Voice Count

The Genetic Town Hall: Making Every Voice Count

Summer 2004

The six Genetic Town Halls: Making Every Voice Count provided a setting for informed debate and discussion about the benefits and potential drawbacks of reproductive genetic testing.

[edit] Summary Report

• Discussions asked participants to consider issues related to carrier testing, preimplantation genetic diagnosis (PGD), and prenatal testing
• 89% felt that there should be limits set for acceptable/unacceptable uses of reproductive genetic testing
• high percentage thought that it was appropriate to test for a gene associated with a fatal childhood disease
• relatively few thought it was okay to test for a hypothetical gene associated with intelligence or increased strength
• Who should decide and enforce the limits of genetic testing?:
  • 28% medical societies
  • 39% individuals and their doctors
  • 25% federal or state legislation
• 90% of participants supported government review and approval of tests before they go on market
• participants generally had positive views about genetic testing’s effects on individuals and families since tests could reduce suffering and stress and help in long-term care planning
• participants spoke of barriers to equal access
  • geographic (rural vs urban)
  • economic (insurance may not cover testing, thus only wealthy can afford)
  • education (informed decisions are based on access to information and tests)
• Insurance coverage issues
  • Insurance should cover testing so everyone has access
  • If insurance covers testing, could companies mandate testing and then discriminate?
• Participants discussed the possibility for discrimination against anyone who is not perfect and loss of diversity. They also talked about how monetary resources might get too heavy on reproductive testing, which would divert funding away from treating and curing existing diseases.
• Implications for society:
  • Gender imbalance
  • Intolerance
  • Rare disease neglect
  • Creation of “superman”

[edit] Sacramento City Report

• Generally approved of using genetic tests only to detect disorders—the more serious the disorder, the more support for testing. Possibility of developing a disease was not a compelling reason for genetic testing. Testing for intelligence and strength were not supported. There were mixed opinions about testing for sex.
• Who should set the limits of genetic testing?:
  • 37% individual patients and their doctors
  • 31% federal and state governments
  • 25% professional medical societies
• Confidentiality top concerns:
  • purpose of the test (prevention or correction of disease)
  • how information would be used (who would be told about tests?)
  • accuracy of tests
• Safety and accuracy:
  • 89% said govt should review and approve genetic tests for safety and accuracy
• Children as Commodities?:
  • Concern for designer children, which would lead to decreased diversity and increased intolerance/ignorance
  • 64% participants initially felt that reproductive genetic testing would lead to genetic enhancement and designer babies (72% by end of event)
  • 68% believed reproductive technologies help parents make informed choices and have healthy babies
  • 80% initially felt that reproductive technology could get out of control (90% by end of event)
• Societal implications top concerns:
  • test results could be used to deny employment or health insurance
  • class stratification
  • preservation of diversity and tolerance
  • “loss of humanity” through “super soldiers”
  • international regulations
• Panel Key Points
  • Senator Dede Alpert –legislative process is not designed to adapt to fast-moving technology issues
  • Thane Kreiner—role of business in educating and providing information for consumers—industry associations can channel information
  • Dr. Bert Lubin—disconnect between families that could benefit from testing and the ones that actually get it

[edit] Seattle City Report

• Generally approved of using tests to detect disorders (the more serious the disorder, the more support). Participants did not approve of testing for intelligence or strength. Participants were generally okay with testing for sex
• PGD is slightly more acceptable than prenatal testing when testing for disease-related conditions.
• Who should set limits of genetic testing?
  • 48% individuals and their doctors
  • 29% professional medical societies
  • 16% federal or state governments
  • concern that research on new technologies would be affected by political or religious groups.
• Costs and counseling as top concerns
  • Profit (doctors and clinics) could influence how patients are advised
  • Gene patenting and intellectual property
  • Genetic counseling and education must go hand-in-hand with gene testing
• Safety and accuracy:
  • 93% believe that government should review and approve tests
• Impact on family and society
  • Genetic testing could help families prepare for challenges
  • Loss of diversity
  • Liability issues
  • 41% initially believed that genetic technologies will inevitably lead to genetic enhancement and designer babies (44% by end of event)
• Societal Top Concerns:
  • Testing would be used to push social, political, or religious agendas
  • Concentration on genetic technologies would mean ignoring more pressing social issues
  • Discrimination on many levels (ethnicity, ability, income)
  • Biological risk of losing desirable characteristics
  • Overlooking role of environmental factors in disease
• Panel Key Points
  • Senator Rosa Franklin--Creating public policy around this fast-moving technology is a challenge
  • Dr. Roberta A. Pagon—premise of discussion ought to be based on currently available technologies rather than speculation
  • Representative Dr. Shay Schual-Berke—biotech is booming
  • Deborah Swets—desire for choice and concern over how information is used are typical concerns for the Seattle area

[edit] Kalamazoo City Report

• Generally approved of using tests to detect disorders (the more serious the disorder, the more support). Participants did not approve of testing for intelligence or strength. Participants were generally less accepting of testing for sex
• Who sets limits?
  • 48% individuals and their doctors
  • 25% federal and state governments
  • 18% medical societies
  • about 2/3 demonstrated that a combination of groups should form guidelines
  • equitable access (cost and inequalities in health insurance) was important to many in the forum
  • initially 87% of people were concerned about government regulation (77% by end of event)
• Safety and accuracy
  • 97% said that government should review and approve genetic tests before they go on the market
• Impact on family and society
  • Genetic testing is good for preparing for a child with a genetic disorder and reducing children’s suffering
  • Lack of diversity
  • If focus is on genes, then attention may be taken away from nurturing
  • Psychological pressures on parents and children to “measure up” if they have not been “modified”
• Panel Key Points
  • Reverend J. Louis Felton Pastor—church has a role in helping families work through the issues related to reproductive genetic testing
  • Susan Hendricks—information can be powerful, but not everyone wants information. Access remains the biggest healthcare issue we have in our country.
  • Amy Lance—spoke of her experience with reproductive genetic testing
  • State Representative Alexander Lipsey—regulation has limitations. “While government can provide some general framework, these decisions will be grounded on where our moral compass is and where our faith has taken us.”

[edit] Fort Worth Report

• Carrier testing was seen as the most acceptable type of reproductive genetic testing. The more serious the reason for testing, the more support. Gene testing for intelligence or strength was not supported. Testing for sex was not supported either.
• Who should set the limits?
  • 26% federal and state regulation
  • 44% professional medical society
  • 26% individuals and their doctors
• Impacts of family and society
  • Consideration for genetic advancement should not override need for care and treatment
  • Refraining from having babies with genetic disorders will hinder finding treatments for these disorders
• Top concerns about genetic testing:
  • Killing children you decide you don’t wanting and giving parents “Godlike” authority
  • Devaluation of life
  • Creation of a genetic second-class
  • Loss of diversity
• Panel key points
  • Reverend Gilbert Marez raised theological questions about creation and responsibility that the church could have a role in articulating
  • Craig Mitchell spoke of needing more information and the importance of the church dealing with the issue
  • Joe Leigh Simpson—regulation may not be able to keep up with fast-changing genetics, but some regulation can be enforced

[edit] New York City Report

• Carrier testing was seen as the most acceptable type of reproductive genetic testing. The more serious the reason for testing, the more support. Gene testing for intelligence or strength was not supported. Testing for sex or tissue match was slight less approved.
• Who should set the limits?
  • 41% patients and their doctors (37% by end of event)
  • the rest split between opting for oversight by federal and state governments or medical societies
• Safety and accuracy
  • 95% supported government review and approval of genetic tests
  • voiced concern about insurance discrimination
• Impact on family and society:
  • General sense that minorities and poor would fare badly in a world shaped by genetic testing
  • Big concern about eugenics, or genetic discrimination
  • Genetic testing could lead to healthier babies and less disease and help prepare parents
• Panel Key Points
  • Dr. David Hyman—health care professions are still concerned about how much there is to be done.
  • Congresswoman Nita Lowey—“Anything Congress touches in medical decisions just gets bollixed up and causes real differences.”
  • Rabbi Edward Reighman spoke about the value of making devisions based on the long, rich traditions of religious leadership

[edit] Nashville City Report

• Carrier testing was seen as the most acceptable type of reproductive genetic testing. The more serious the reason for testing, the more support. Gene testing for intelligence or strength was not supported. Testing for sex or tissue match was slight less approved.
• Ethics and Morality:
  • In creating guidelines and regulations about testing, participants felt that considering whether the test was “morally acceptable to society” as well as education and counseling were important factors.
• Who should set limits?
  • 29% professional medical societies
  • 20% federal and state governments
  • 36% individuals and their doctors
• Safety and accuracy:
  • 83% said government should review and approve genetic tests
  • concern that instituting regulation might increase cost of testing
• Impact on family and society:
  • Top concerns:
    • Narrowing diversity
    • Stigmatization of those with disabilities
    • Increase in abortion
    • sex-selection issues
    • more pressure on children to be perfect
  • Top benefits:
    • Prevention of disease
    • Early diagnosis
    • Help for at-risk families
    • Standard of healthcare could improve (less genetic disease = more resources for others
• Panel Key Points
  • John Phillips—don’t underestimate the goodwill of people
  • Reverend Kevin Shrum—competition to be the best already exists
  • Carol Swain—we’re moving in the direction of eugenics if we’re not careful

Summary and PDF Link

[edit] Reproductive Genetic Testing: What America Thinks

Genetics & Public Policy Center Reproductive Genetic Testing: What America Thinks Published in 2004

[edit] Introduction

The Genetics & Public Policy Center began public opinion surveys about the use and regulation of reproductive genetic testing. They defined genetic testing as something done to predict the risk of disease, screen newborns for disease, identify carriers of a genetic disease and establish prenatal or clinical diagnoses. Reproductive genetic testing includes carrier testing, prenatal genetic testing and preimplantation genetic diagnosis. Their methodologies included telephone surveys of 1,211 members of the general public in 2002 followed by a nationally representative survey of 4,834 people via the Internet.

[edit] Public Awareness and Knowledge

People were initially asked whether they had heard of certain genetic testing technologies. Many had heard of prenatal genetic testing, such as amniocentesis, but most had not heard of carrier testing except for women who had been tested for Tay Sachs disease. Almost no one had heard of preimplantation genetic diagnosis (PGD). Those who were most aware of reproductive genetic testing were often highly educated females.

Many parents reported that they first learned of these technologies only after the birth of an affected child. This information often came from a genetic counselor, not a primary physician or the media.

Statistics from the focus groups:

• In 1/3 of the 21 focus groups, many people incorrectly believed that carrier testing is unnecessary unless there is a family history of the genetic disease
• 57% of respondents knew that genetic testing can detect and increased risk of contracting certain kinds of cancer

[edit] Perceptions about Appropriate Uses

In the 2004 survey, about 2/3 of the participants approved of using prenatal genetic testing and PGD to detect fatal childhood disease and 72% approved or strongly approved of this method for blood or tissue matching. These approval rating were often associated with higher education of the participants. Also, the majority of the participants approved of using reproductive genetic testing to identify alterations associated with adult-onset diseases. While genetic testing to detect intelligence or strength is controversial, more tan 25% of Americans approved of this.

Surveying the participants also showed that respondents with little or no college education were more likely to approve reproductive genetic testing for sex or hypothetical traits. This approval was also inversely related to income.

[edit] Views about Embryos and Fetuses

Those opposed to abortion said that they would refuse prenatal testing if there were no treatment options to prevent the option of having an abortion. On the other hand, others believed that abortion might be the best choice if the child is born with a life-threatening disease. Many participants believed that the whole point of PGD was to avoid the transfer of embryos that contained disastrous mutations and should not be used for reproductive purposes.

[edit] Implications for Individuals, Families and Society

Many participants in the focus groups were concerned that selecting certain genetic characteristics may make the human race more vulnerable and less diverse. These participants were concerned that we would create a society where genetics become competitive and only certain genes would be preferred. In cultures like China where male children are preferred, some participants feared that their would be a severe imbalance between male and female children.

One advantage of PGD is that it can be used to produce children who are genetically related to their parents who may not otherwise be able to have children. While many participants empathized with this, they do not believe that should be financially responsible for other people.

Seventy-eight percent of those involved in the focus group was that reproductive genetic technologies would discourage research and development. They thought that people would only be giving birth to those children that are healthy since diseases will be able to be detected before birth.

[edit] Accuracy and Safety

Accuracy and safety have both physical and ethical consequences. The importance of accuracy of prenatal testing is a serious concern because inaccurate test results can lead to an aborted fetus that would have been healthy. These types of mistakes result in death and cannot be reversed. Other parents surveyed expressed concerns about false negative genetic tests and the impact this would have on the family.

[edit] Oversight of Reproductive Genetic Testing

Most participants believed that due to conflicting values and interests, it would be very difficult to set limitations on prenatal testing. Even if limitations were set, there was skepticism that people would just travel outside of regulated areas to get the testing they wanted. Many parents also believed that politicians and legislators do not have the appropriate background to make these kinds of decisions. Seventeen percent and nineteen percent of surveyed participants respectively, did not want the government to regulate PGD or prenatal genetic testing. Instead, 1/3 of town hall participants believed that these decisions should be made individually. Another third of the participants believed that medical professional societies would be the best group to set limits. Women were more likely than men to be concerned about the implications reproductive genetic testing would have on women’s rights and reproductive rights.

Summary and PDF

[edit] Reproductive Genetic Testing: Issues and Options for Policymakers

Reproductive Genetic Testing: Issues and Options for Policymakers Genetics and Public Policy Center Published 2004

[edit] Introduction

There are many different policies regarding Reproduction Genetic Testing, which includes carrier testing, prenatal screening and testing, and preimplantation genetic diagnosis (PGD), that could guide the development and uses of genetic testing. In relation to these various possible policies, diverse scientific, legal, regulatory, ethical, moral, and societal issues are illuminated. This report highlights different Reproductive Genetic Testing policy options and corresponding issues.

[edit] Reproductive Genetic Testing: A Scientific and Medical Overview

Genes and Inheritance

• Humans have DNA, consisting of 20,000-25,000 genes and typically packaged into 23 pairs of chromosomes.

Genes and their Role in Disease

• Some DNA variations, even as small as one or two base pair alterations in a gene, can lead to disease or increased risk for disease.
• There need to be two copies of recessive mutations to cause disease, while there need be only one copy of a dominant mutation to cause disease in autosomal chromosomes.

Limits of Genetics

• Disease manifestations may require a combination of different gene mutations and environmental factors. Also, some gene mutations lead to increased risk of disease rather than definitely causing disease. Lastly, disease severity is not entirely dependent on gene mutations. Genetic disease risks can lead to

difficult health care choices. The Technology of Testing

• Compared with biochemical tests, DNA-based tests are often easier, cheaper, faster, and more accurate.

Genetic Testing and Issues for Society

• Some ethical and social issues that may arise from reproductive genetic testing
  • What decisions will need to be make by parents/families after receiving a reproductive genetic test?
  • How will the information from testing be used (abortion, destroy embryos)?
  • Will genetic testing influence how society views children?
  • Who can get genetic testing and who pays for it?

Perceiving Genes as Destiny

• Genetic information carries an aura of invincibility that other medical tests may not have. Also, genetic tests may have implications for other family members.

The Social Meaning of Genetic Difference

• What is considered a disease versus a “normal” genetic variation is often not agreed upon by society. This in turn leads to discrepancies about what genetic tests are being used for.

Impacts on Parents and Children

• Will genetic testing put pressure on parents to have perfect babies or on children to be perfect? There is also debate about whether or not it is appropriate to test fetuses/embryos for adult-onset disorders that may have treatments now or in the future.

Changing Experience of Pregnancy

• Getting genetic testing during pregnancy can lead to a lot of stress and some people even say that it is “too much information and too many choices.”

Access to Care and Insurance

• Insurance companies are more likely to cover older technologies, and not necessarily newer ones. Discrimination based on genetic information is a fear that people have.

Moral Standing of Embryos and Fetuses

• The question of status of a human life at different stages of development is controversial, which interacts with values and beliefs surrounding reproductive genetic testing.

Role of Religion

• Religion plays a role in guidance in decisions about the use of reproductive genetic testing.

Carrier Testing: What It Is and How It Works

• Carrier testing is performed because an individual’s family history or ethnic/racial background indicates heightened risk for carrying a mutation for a particular autosomal recessive disorder.
• Carrier testing may be used in many ways by prospective parents:
  • May choose adoption or to use donated eggs, sperm embryos
  • May choose in vitro fertilization and test embryos using PGD
  • May choose to become pregnant and pursue early prenatal testing
  • May learn about parents' risks, but not pursue prenatal testing

Current Issues in Carrier Testing

• Certain genetic conditions are more prevalent among specific racial/ethnic groups, which has led to some targeted genetic testing.

[edit] Lessons from the Past

Tay Sachs: An Effective Use of Carrier Testing

• There have been Tay Sachs testing programs within the Ashkenazi Jewish population, which has led to a significant decrease in Tay Sachs cases.
• There was a strong collaboration between researchers and community leaders

Sickle Cell: Carrier Testing Causes Concerns

• Sickle cell genetic tests implemented in the 1970s with little collaboration between researchers and community members. Often times testing was targeted to the black population and was mandatory
• These tests were often misunderstood and discrimination resulted.

Cystic Fibrosis: The Push for Broad Testing

• Before offering CF genetic testing, there was a lot of discussion among the genetic community and professional organizations
• The broad CF testing had some detrimental glitches of incorrect tests and readings.

Four Lessons about Different Carrier Testing:

1. The importance of scientific and community consensus regarding the development and use of a test
2. The value of community participation in determining the context of testing
3. The need for ongoing monitoring and evaluation of test implementation
4. The importance of responding to new developments as testing evolves

Timing of Carrier Testing

• Professional guidelines usually recommend that carrier testing take place before pregnancy to all for more pregnancy options. Barriers to this are:
  • It takes up “unnecessary” time and paperwork for practitioners to tell patients about carrier testing before they’re pregnant
  • Unplanned pregnancies
  • Communication of information to patients may be unclear

[edit] Prenatal Testing

What It Is and How It Works

• Prenatal testing includes prenatal screening to identify fetuses at higher risk for genetic or other abnormalities and prenatal genetic testing to diagnose genetic abnormalities in utero.

Prenatal Screening

• Options: Ultrasound and maternal serum screening (usually done in second-trimester)
• First-trimester screening is a new option
• Neural tube deficits, some heart malformations, trisomy 18, Down syndrome, and spina bifida are some conditions that can be screened.

Diagnostic Tests and Procedures

• Amniocentesis is usually done during second-trimester and involves removing a small amount of amniotic fluid
• Chorionic villus sampling (CVS) can be performed during first-trimester and involves obtaining fetal cells from the chorionic villi.

[edit] Current Issues in Prenatal Screening and testing

The Experience of Testing

• Many factors contribute to deciding whether or not to pursue prenatal genetic screening/testing:
  • No screening/testing: want to see baby before they know health problems, will not terminate pregnancy whether or not the fetus has a disorder, do not know that they are pregnant, do not want to risk a miscarriage from amnio or CVS, the potential information is more worrisome than helpful, etc.
  • Yes screening/testing: parents can prepare economically, emotionally, logistically for having a child with a genetic disorder; may terminate pregnancy depending on test results; the potential information is more helpful than harmful; etc.
• There is debate over whether society should make decisions about prenatal screening/testing or not since it could influence how society views procreation and children.

How Tests and Results Are Provided

• Some people are concerned about how test results are presented to patients.
• Could be done by physicians or genetic counselors using a variety of styles
• Sometimes patients feel pressured to get a test or terminate a pregnancy and sometimes patients make decisions about testing based upon inaccurate or incomplete information.

[edit] Preimplanation Genetic Diagnosis

What It Is and How It Works

• Preimplantationa genetic diagnosis (PGD) is a process in which embryos developed outside the womb are tested for particular genetic characteristics before being transferred to a woman’s uterus.

The Mechanisms of PGD

1. Egg extraction
2. In vitro fertilization
3. Cell Biopsy
4. Genetic Analysis
   1. Chromosome analysis
   2. PCR
5. Embryo transfer

Current Issues in PGD

• Controversial Issues:
  • Selecting an embryo that is a tissue match for a sick sibling
  • Selecting a certain sex embryo for gender preference
  • Selecting an embryo based on adult-onset disease risks
  • PGD as a means of manipulation and possibly destruction of human embryos
  • Society may view human reproduction as a scientific and technical process, and children as the end result of this process
  • Societal inequality could be exacerbated
  • Parental expectations of selected children and tension between “PGD” and “not-PGD” siblings may be altered

The Future of Reproductive Genetic Testing

• As testing progresses, it is unclear who will regulate
• Increased carrier testing will lead to more young adults knowing their genetic risks before pregnancy
• Prenatal testing is expected to increase and to contain more options, which will lead to more choices and more confusion (get the test or not, terminate pregnancy or not, etc)
• The different genes that can be tested by PGD in the future is virtually endless, which is quite controversial (think: testing for heart disease risk, sex, athleticism, etc)
• There are uncertainties about how genetic tests will be bundled and what information will be shared with patients.

[edit] Current Legal and Regulatory Landscape

Government Oversight of Reproductive Tests

• Federal
  • Federal government does minimal genetic testing regulation (oversight of genetic tests and facilities), which has been argued as inadequate
  • There are federal regulations for all institutions that receive federal funds to follow rules protecting human participants for medical research, especially pregnant women
  • There is no federal funding for research that involves creating, destroying, or putting the embryo at more risk than an in utero fetus.
• FDA
  • Regulates diagnostic test kits
  • Does not regulate “home-brew” tests, but does regulate certain components
  • Regulates drugs and devices used as part of fertility treatments, human tissues to some extent
  • Although FDA may regulates the claims a manufacturer may make about an approved product, it cannot regulate how a doctor uses or administers it (ie: off-label drugs).
• CLIA (Clinical Laboratory Improvement Amendments)
  • Oversight of laboratories that perform genetic testing and analysis
  • CLIA defines a “clinical laboratory” as a laboratory that examines materials “derived from the human body” in order to provide “information for the diagnosis, prevention, or treatment of any disease or impairment of, or the assessment of the health of, human beings.”
  • Laboratories that perform PGD are not certainly regulated by CLIA.
    • Are embryos considered human beings?
    • PGD constitutes the practice of medicine?
  • CLIA addresses some aspects of analytic validity, but not clinical validity.
• CDC
  • Monitor, detect, do surveillance of health and disease, as well as data collection and analysis
  • CDC advises CMS about CLIA
  • Pregnancy Risk Assessment Monitoring System (PRAMS) used to collect data related to maternal attitudes about pregnancy. Survey hardly asks about reproductive genetic testing
  • Fertility Clinic Success Rate and Certification Act (FCSRC) require clinics that provide IVF services to report pregnancy rates annually to federal govt.
• Government Advisory Committees on Genetic Testing: Unheeded Advice
  • George Bush created the President’s Committee on Bioethics (PCB) in 2001, which discussed some assisted reproduction issues including PGD.
• States

• License physicians and other healthcare providers, but don’t regulate which procedures they do.

• • Some states regulate laboratories. Some prohibit DTC testing
  • Most states implement CLIA program, but do not add to it
  • States have jurisdiction over insurance benefits. Some mandate some coverage of infertility treatment
• Self-Regulation and the Role of Professional Organizations
  • Medical and professional organizations sometimes create best practice guide lines that may be used for legal purposed to see if medical care meets these recommended guidelines.
    • American College of Obstetricians and Gynecologists—guidelines and opinions addressing some specific genetic tests and ethical issues
    • American College of Medical Genetics—policy statements and guidelines for some carrier and prenatal genetic tests
    • American Society for Reproductive Medicine—addressed PGD
    • PGD International Society—“Guidelines for Good Practice in PGD”
    • European Society for Human Reproduction and Embryology—“Best Practice Guidelines” for PGD testing
    • College of American Pathologists—voluntary programs certifying clinical laboratories
• Oversight by Court Action
  • Malpractice liability helps medical providers follow appropriate standards of care
  • Court cases brought about by reproductive testing are likely to increase (ie: “wrongful life,” “loss of consortium,” whether or not the provider is obliged to tell family members about test results)

[edit] Policy Options

• Concerns dealing with oversight of reproductive genetic testing:
  • Ethical use
  • Clinical delivery
  • Accuracy and safety
  • Access
• Ethical Use of Reproductive Genetic Testing
  • Concern that prenatal testing and PGD might lead to destruction of more embryos
  • Concerns about why testing is used (ie. prevent life-threatening disease, test for adult-onset disease, etc)
    • Governmental Policy Options:
    • Establish federal or state rules for ethical uses of reproductive genetic testing
    • Federal or state ban on PGD
  • Private Policy Options:
    • Develop professional guidelines for ethical uses of reproductive genetic testing
    • Limit uses of reproductive genetic testing through insurance coverage decisions
• Clinical Delivery of Reproductive Genetic Testing
  • The quality of patient care would be enhanced if:
    • Health care providers were more knowledgeable about testing
    • Testing were offered when prospective parents could make the best use of the information
    • Prospective parents were provided all of the information and counseling needed to understand their choices about testing and the implications of those choices
  • Private Policy Options:
    • Develop professional guidelines for appropriate delivery of reproductive genetic testing. Federal funding should be made available to professional societies to support this work.
    • Improve healthcare provider education about reproductive genetic testing
    • Educate patients, especially those of reproductive age, about reproductive genetic testing
    • Increase genetic counseling services and information before and during pregnancy
• Accuracy and Safety of Reproductive Genetic Testing
  • False positives and false negatives can be very stressful for patients and can result in more testing, termination of healthy pregnancies, or unexpected birth of affected children.
  • There is little federal oversight
  • Governmental Policy Options:
    • Increase federal oversight of genetic testing
    • Increase role of state governments
  • Private Policy Options:
    • Develop professional guidelines to improve accuracy and safety of reproductive genetic testing.
    • Establish professional certification programs for proficiency in reproductive genetic testing
• Access to Reproductive Genetic Testing
  • Cost of testing and uncertainty of insurance coverage keeps some people away from getting genetic testing
  • Unsure what insurers cover
  • Health policy standpoint: other health care needs should be covered before the newest reproductive genetic tests
• Medicaid
  • Medicaid covers low income families
  • Benefits vary by state
  • Usually women don’t qualify until they’re pregnant
  • Medicare covers some disabled people under 65
  • State Children’s Health Insurance Program is another federal insurance plan for children under 19 who don’t have coverage.
  • Governmental Policy Options:
    • Enact federal and/or state laws to prohibit genetic discrimination
    • Require private insurance coverage of reproductive genetic testing consistent with recommendations by qualified professional groups
    • Require public programs to cover reproductive genetic testing consistent with recommendations of qualified professional groups
    • Expand Medicaid eligibility and outreach to give low-income women better access to reproductive genetic testing
  • Private Policy Options:
    • Coordinate and improve insurers’ research into coverage decisions
    • Provide financial assistance for PGD through IVF clinics

[edit] What More Do We Need to Know?

• How many people are using reproductive genetic testing and will use it in the future?
• How many people are being offered testing? How many accept/reject it and what are the reasons behind their decisions?
• Is carrier testing offered before or after conception? Why?
• Do patients receive information early enough to make informed choices?
• Are technologies covered by insurance? Under what circumstances?
• Why are these technologies being used?
• Safety and accuracy of tests needs to be researched and recorded
• PGD-specific issues (ie: Is embryo damaged?)
• What is the societal impact?
• Patient registry
• Research sponsors from different sectors should collaborate and establish a common set of research priorities, ethical standards, and distribution requirements
• Constructing policy that addresses public’s opinions, which requires more input from patients, providers and advocates

Summary and PDF

[edit] Public Awareness and Attitudes about Reproductive Genetic Technology

Genetics & Public Policy Center Public Awareness and Attitudes about Reproductive Genetic Technology Published in 2004

[edit] Introduction

The results from this report come from a survey from the Genetics & Public Policy Center conducted by telephone from October 15 to October 29,2002. The respondents were at least 18 years of age and totaled 1,211 people. The error associated with the results is plus or minus 3 percent.

[edit] Awareness and Knowledge about Reproductive Genetic Testing

• Knowledge of Genetic Testing
  • 72% of respondents know that it is possible to use genetic testing to determine if a person has a greater than average chance of developing certain types of cancer
  • 70% of respondents know that it is possible to use genetic testing during pregnancy to determine if the baby will develop certain types of diseases
  • 52% of respondents know that it is not possible to use a genetic test during pregnancy to determine the intelligence level of the baby
  • 51% of respondents incorrectly believe that genetic testing can be used to determine if a person will have a greater than average chance of developing a mental illness
  • 51% of respondents believe that there are fewer than 200 genetic tests available and 6% of respondents believe that there are more than 1,000 genetic tests available although there are 582 that are used
  • 91% of respondents have heard about reproductive cloning
  • 90% of respondents have heard about in vitro fertilization
  • 83% of respondents have heard about genetic testing
  • 80% of respondents have heard about genetic engineering
  • 24% of respondents have heard about pre-implantation genetic diagnosis (PGD)
• Knowledge of Reproductive Cloning
  • 90% of respondents know that it is possible to create a clone or genetic copy of an animal
  • 46% of respondents believe it is possible to create a human clone
  • 22% of respondents believe that a human clone has already been created
• Knowledge of Genetic Engineering
  • 52% of respondents know that it is not possible to change a baby’s genetic make-up before birth to give it stronger traits
  • 35% of respondents are aware that techniques don’t exist yet to change a baby’s genetic make-up to prevent genetic diseases
  • 23% of respondents believe it is possible to prevent a genetic disease using genetic engineering
• Knowledge Demographics
  • 28% of women age 18 to 29 answered at least 6 of the 8 knowledge questions correctly
  • 18% of women age 30 and older answered at least 6 of the 8 knowledge questions correctly
  • 17% of men answered at least 6 out of the 8 knowledge questions correctly
  • 30% of college graduates received top scores on knowledge about genetic technology
  • 15% of those who did not go to college received top scores on knowledge about genetic technology
  • Women are more likely than men to be aware of IVF and genetic testing
  • Men are more likely that women to be somewhat familiar with reproductive cloning and genetic engineering
  • 46% of Hispanics are somewhat familiar with reproductive cloning compared to 38% of whites and 32% of blacks
  • 25% of Whites are somewhat familiar with genetic engineering compared to 15% of blacks and 22% of Hispanics

[edit] Acceptance of Genetic Technology

Regardless of exposure to information about genetic technology, people still believed prior to accessing information. In some cases involving the use of PGD technology, some who had some information about PGD prior to the interview were slightly less likely to approve of its use.

• 54% of respondents who received low scores for their support of genetic technology say they feel strongly about these issues
• 26% of respondents who are highly supportive of genetic technology say they feel very strongly about these issues
• Attitudes Towards Health-Related Applications
  • 74% of respondents approve of PGD to select embryos for implantation that don’t have a serious genetic disease
  • 66% of respondents approve of pre-natal genetic testing to find out whether the baby will develop a serious genetic disease
  • 60% of respondents approve of PGD to select embryos that don’t indicate a tendency for developing certain types of cancer
  • 59% of respondents approve of genetic engineering to prevent a parent from passing on a genetic disease to their child
  • 72% of respondents approve of in vitro fertilization
  • 69% of respondents approve of using PGD to select embryos for implantation that would result in a child that would be a match to donate blood or tissue to a sick sibling
  • Between 20% and 33% of respondents disprove of any health-related uses of genetic technology
• Attitudes Towards Non-Health Related-Uses
  • 28% of respondents approve of using PGD to select embryos of a certain sex for implantation
  • 22% of respondents approve of using PGD to select embryos with desirable characteristics for implantation
  • 20% of respondents approve of using prenatal genetic testing to find out if a baby will have desirable characteristics and approve of using genetic engineering so parents could alter their genes to make sure children will inherit the most valuable traits
• Attitudes Towards Reproductive Cloning
  • 37% of respondents approve of animal cloning
  • 18% of respondents approve of research for human cloning
  • Evangelical Christians are less supportive of genetic technology than any other religion
  • People age 18-29 are more supportive of genetic technologies than people age 30 and older

[edit] Attitude Trends

Princeton Survey Research Associates (PSRA) surveyed the public about genetic engineering in 1994 and the results compared to the GPPC results follow.

• In 1994, 55% of respondents approved of using genetic engineering so parents could prevent a child from inheriting a genetic disease while 59% approve of it now
• In 1994, 85% of respondents disproved of using genetic engineering so a baby would have desirable characteristics while 76% disprove of it now
• In 1991, 30% of respondents approved research on animal cloning while 39% approved of it in 1997 and 37% approve of it now
• 54% of respondents said they think about these issues mainly in terms of their implications for health and safety
• 33% of respondents said they think about these issues in terms of religion and morality
• Republicans are divided between the two orientation while Democrats and Independents often side with the health and safety aspects of these issues
• 11% of respondents who identify more with the health and safety orientation are concerned that the technologies are too new to be used safely
• 10% of respondents who identify more with the health and safety orientation are concerned that most people will not be able to afford these technologies
• 20% of respondents who identify more with the religious orientation do not see any potential benefit of using genetic technologies

[edit] Experience with Genetic Technology

• 27% of respondents said they or an immediate family member has a genetic disease
• 15% of respondents say they or an immediate family member has had a genetic test
• 13% of women say they had a prenatal genetic test while they were pregnant
• 29% of women say they or someone they know has used IVF
• 84% of women who have had a prenatal test approve of the use of prenatal testing to find out if their baby will develop a serious genetic disease

[edit] Privacy

Some respondents believe that employers and insurance companies will use results from genetic testing to discriminate against job opportunities or insurance policies. 85% of respondents believe that employers should not have access to someone’s genetic information while 68% of respondents believe that insurance companies should not have access to someone’s genetic information. 68% of respondents believe that a spouse or partner should be allowed to know a person’s genetic risk for disease. 53% of respondents believe that other immediate family members should be allowed to know this information.

[edit] Support for Regulation

• 75% of respondents believe the quality and safety of genetic testing should be regulated by the government
• 71% of respondents believe the quality and safety of genetic engineering should be regulated by the government
• 65% of respondents believe the quality and safety of IVF should be regulated by the government
• 62% of respondents believe the quality and safety of PGD should be regulated by the government
• 84% of respondents believe the quality and safety of human reproductive cloning should be regulated by the government
• 47% of Republicans say they think the government should regulate all five of the genetic technologies from this study
• 42% of Democrats say they think the government should regulate all five of the genetic technologies from this study

Summary and PDF

[edit] Preimplantation Genetic Diagnosis: A Discussion of Challenges, Concerns, and Preliminary Policy Options Related to the Genetic Testing of Human Embryos

Genetics & Public Policy Center Preimplanation Genetic Diagnosis: A Discussion of Challenges, Concerns, and Preliminary Policy Options Related to the Genetic Testing of Human Embryos Published in 2004

[edit] What is PGD?

Preimplanation Genetic Diagnosis (PGD) is a process in which embryos that develop outside of the womb are tested for certain genetic characteristics or diseases. Some providers recommend PGD for patients over 35 who may have had repeated In Vitro Fertilization (IVF) failures.

In order to use PGD, the eggs must first be removed from the mother once she has been given drugs to stimulate egg production. These eggs are then fertilized. The provider can do genetic testing by either using one or two cells from the embryo two to four days after fertilization or by using a polar body cell that is cast off by the egg as it matures. Once cells have been removed, chromosomal analysis can assess the structure of the chromosomes and DNA analysis can detect specific mutations.

[edit] Overview of Challenges and Concerns

Some of the concerns surrounding PGD include when it should be used, the safety and effectiveness of the procedure, cost, access, parental expectations, sibling relationships and what it means to live in a society where one’s genetics are more a matter of choice than chance. The moral and ethical dilemma of creating and destroying human embryos means creating and destroying life to some while others do not see this as quite as serious of an issue. Others question the ethics of using PGD to determine risk for adult onset diseases where the child is not affected.

In terms of safety, it is important to make sure that both the child and mother are protected. Misdiagnosis, while uncommon, is possible and must be taken into consideration in terms of unintended consequences. Also, the cost of the PGD and IVF procedures are so costly that is it likely that only the wealthy will have the opportunity to use these procedures. Some worry that this will lead to kids with genetic disorders being born to more poor families who will have difficult supporting them.

[edit] Federal Oversight of PGD

Currently, the federal government does not directly regulate practice of medicine. However, the federal government does have requirements for safety and effectiveness testing, outcome reporting and oversight of clinical research. Congress has not yet authorized federal regulation of PGD, but there are some options that policymakers have.

In 1992, the Centers for Disease Control (CDC) were involved with the Fertility Clinic Success Rate and Certification Act. This law requires clinics that provide IVF to report pregnancy success rates, type of assisted reproduction procedure, medical diagnosis leading to IVF, number of cycles of IVF and whether fresh or frozen embryos where used.

The Food & Drug Administration (FDA) regulates certain medical devices used for genetic testing. They also are involved in regulation of human tissues for transplantation.

Finally, the Center for Medicaid and Medicare Services (CMS) was involved in the 1988 Clinical Laboratory Improvement Amendments. These amendments are meant to improve the quality of clinical laboratory services. Currently, PGD does not fall under this law, but there is debate. If this law were applied to embryo biopsies, labs would need to comply with rules relating to other clinical labs. If this law were to be applied to genetic analysis of preimplantation embryos, labs will be required to do proficiency testing.

[edit] State Oversight of PGD

Currently, no state has enacted laws directly related to PGD, they have the ability to create their own regulatory schemes. However, New York is in the process of developing standards for laboratories that will include oversight of genetic tests associated with PGD. Some insurance companies cover some of the cost, but currently no states require complete insurance coverage. Fifteen states have enacted laws for some degree of insurance coverage.

[edit] Professional Organization Oversight of PGD

The American Society for Reproductive Medicine (ASRM) issues policy statements, guidelines and opinions relating to medical and ethical issues reflecting the organizations practice committees. In 2001, the ASRM issued a practice committee opinion saying that PGD is a “viable alternative to post-conception diagnosis and pregnancy termination.”

The Society for Assisted Reproductive Technologies distributes mandated requirements for fertility clinics, provides voluntary consultation and guidelines to members to improve quality of clinical practice. The PGD International Society, also related to PGD research, organizes meetings and workshops for the scientific community. Finally, the European Society for Human Reproduction and Embryology tracks PGD outcomes on voluntary basis within Europe.

[edit] Should PGD be Allowed at All?

The overarching debate is when life begins. If the moment that life begins is when the sperm and egg unite, then this may potentially be destruction of life. There is also concern that allowing PGD will lead to a society of genetic enhancement and may control the path of human evolution.

One solution may be to ban PGD. PGD is potentially an intrusion into the natural process of procreation and can result in the destruction of human embryos. On the other hand, banning PGD could raise constitutional concerns. It would be a very blunt statement that does not allow exceptions. If parents do not have the option of PGD, they may choose to go underground and put themselves at risk. Banning PGD may also be difficult to enforce and could lead to inconsistencies.

[edit] Federal Oversight

Enact new law limiting PGD:

• Pros
  • Would create clear and legally enforceable rules
  • Would engage the public in the issue of appropriate limits on PGD applications
  • Fewer embryos would be created and destroyed
• Cons
  • Would be an intrusion into private medical practice
  • Would give government authorization to some uses of PGD
  • Would require parents to try to prevent the birth of a child with a genetic condition for which PGD is prohibited

Authorize new or existing federal agency:

• Pros
  • An agency would create clearly enforceable standards governing PGD
  • A regulatory agency would have more flexibility than Congress
  • Fewer embryos would be created/destroyed
• Cons
  • An agency would be an intrusion into private medical pratices
  • It would be hard to find a majority of lawmakers who could agree on scope and powers of entity
  • Creating an agency may affect the ease of access

Expand scope of CLIA:

• Pros
  • Would ensure that PGD and embryo labs follow the same basic procedures
  • Proficiency testing for genetic tests and PGD could serve as a model for proficiency testing for all genetic testing
• Cons
  • Could add more bureaucracy without improving quality
  • Jurisdiction over these labs may need to be clarified through legislation
  • May be difficult to regulate safety and effectiveness

Mandate Private Insurance Coverage:

• The federal government could implement employee health benefit packages in which employers bears some or all of risks of paying for the costs of care

Mandate Coverage by Medicaid and Medicare:

• The federal government could provide incentives for states to include PGD in the state Medicaid benefit package by providing more funding for PGD tests and procedures.
• Pros
  • Would provide important benefit for Medicaid and Medicare recipients by increasing the chance that they’ll have healthy children
  • Low income patients or disabled patients may be interested in avoiding the burden of having a child with a disability
• Cons
  • Few Medicaid and Medicare patients would pursue PGD

[edit] State Oversight

Set limits on PGD:

• Pros
  • States have played an important role in health and safety issues throughout history
  • Create clear and legally enforceable rules
• Cons
  • States may differ in the uses they permit
  • There may be inconsistencies
  • Could negatively affect innovation in PGD medical practices
  • Could drive providers out of field
  • Could give government sanction to some uses of PGD uses but not all

Involve Public Health Agencies:

• Pros
  • Often influence public health policy and practice
  • Each agency can take its basic charge to protect the public health and apply it to improving safety and accuracy of PGD
  • States can consider implementing the CDC model embryo labs certification program
  • State initiatives may be more politically feasible when national approach is too difficult
• Cons
  • Safety, accuracy and effectiveness may vary depending on where the patient lives
  • State PH agencies already stretched thin and would be hard pressed to find more resources

[edit] Non-Governmental Approaches

PGD Providers Could Create Guidelines for Acceptable Uses:

• Pros
  • Providers are the most natural group to monitor PGD
  • Provides the most flexibility for development of science and technology
  • Avoids government intrusion
• Cons
  • Providers have different views about appropriate uses
  • Professional guidelines have not always been effective at limiting misbehaviors
  • Providers could have conflict of interest because they have financial motivation

Establish Guidelines Through Patient Groups:

• Pros
  • They have special insight about particular conditions
  • They can offer guidance to prospective parents
  • Patient groups may have insight into the impact of PGD on people living with genetic diseases
• Cons
  • Guidance offers no enforceable limits
  • Prospective parents may have views that conflict with the guidelines of the patient group
  • They may be unable to develop guidelines because of conflicting opinions within membership

Leave Decision to Parents and Providers:

• Pros
  • Avoids government interference in personal choices
  • Avoids government interference in practice of medicine
  • Respects different personal or professional beliefs
  • Permits scientific innovation
• Cons
  • Does not provide formal legal limits
  • Provider policies will be inconsistent
  • May have consequences for the resulting child

Provide Better Information to Prospective Parents about Genetic Conditions:

• Pros
  • Helps parents without harming people already affected
  • People with disabilities may have special insight
  • More information can reduce the amount of prospective parents seeking PGD
• Cons
  • Does not provide clear limits on PGD
  • Additional education for parents requires more coordination and resources
  • Some parents may perceive this as unwelcome pressure

Establish Professional Certification Programs:

• Pros
  • Could result in a comprehensive system to certify PGD providers in clinics and labs
  • Improves the quality of services by establishing training criteria and demonstrating competency
  • Combines multiple areas of expertise to set high standards
• Cons
  • Requirements have often functioned to limit competition
  • Self regulation may be biased

Develop Practice Guidelines:

• Pros
  • Providers are the most natural group to monitor this
  • These could be flexible and change over time
  • Private systems do not create the same political problems that government oversight can
• Cons
  • Private systems tend to be voluntary and less enforceable than government oversight rules
  • It would be hard for PGD practitioners to reach consensus on best practices

[edit] Addressing the Safety, Accuracy and Effectiveness

There are many safety risks involved that must be studied in order for PGD to be more widely used. There are risks that a biopsy to remove one or two cells from the embryo for genetic testing may harm or destroy embryo and produce no useful results. There is currently no government review of analytic or clinical validity of a genetic test before it is marketed. Because of this, there have been a few cases in which PGD was not able to detect a genetic abnormality in the embryo and therefore the procedure was not helpful. Although there is a lot of information that we are unsure about, some data suggests that PGD can increase the success rate of IVF if used to test embryos for chromosomal disorders.

[edit] Research and Data Collection

The federal government banned funding in 1996 that supports research for creating or destroying human embryos. However, there is a lot of information that can be collected from research. Researchers could learn more about outcomes for women and children, potentially increase the number of genetic tests available for PGD and provide prospective parents with more data for informed decision-making. On the other hand, without funding, it would be very hard to organize this information. The Institute National Reporting Requirement for PGD could expand the Fertility Success Rate and Certification Act to include PDG. This would create more opportunity for research on PGD as well as long-term follow up with children born through PGD. However, it is financially hard to continue with this follow up and long term research once the woman is pregnant and the baby is born due to inconsistencies with the type of provider.

Summary and PDF

[edit] References

[edit] External Links