How to Find Qualified Services

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Referrals to genetic specialists should be considered if a physician suspects a patient is at risk of or is affected with a genetic disorder. Genetic specialists can help identify the appropriate tests to order (genetic or additional laboratory tests), consider the family history, and provide information about the treatment and long-term outcomes for patients diagnosed with a genetic disorder, including recommendations to other medical specialists.

A referral to or consultation with a genetic specialist may be indicated for several reasons. In general, a consultation with a genetic specialist should be considered if a hereditary condition is suspected. Symptoms that may suggest a genetic disorder are listed in Chapter 3 (“Red flags for genetic disease”). For conditions such as cancer and diabetes, specific clinical guidelines are available.

Certification of Genetic Specialists The American Board of Genetic Counseling (ABGC) serves as the official credentialing organization for the genetic counseling profession in the United States and Canada. The American Board of Medical Genetics (ABMG) certifies clinical geneticists (M.D. or Ph.D.).

ABGC and ABMG both establish the standards of competence for clinical practice through accreditation of graduate programs in genetic counseling and medical genetics, and advance the role of genetic counselors and geneticists in healthcare through the certification and recertification of qualified professionals. The letters, CGC after their name indicates that they are a ABGC Certified Genetic Counselor. You can locate a certified ABGC genetic counselor / ABMG certified physician through ABGC, http://www.abgc.net, ABMG, http://www.abmg.org, the National Society of Genetic Counselors (NSGC), http://www.nsgc.org, the American Society of Human Genetics (ASHG), http://www.ashg.org, or through the American College of Medical Genetics, http://www.acmg.net


Contents

[edit] When to Refer to a Genetic Specialist

Individuals (or families) who have concerns about any of the following should consider seeing a genetic specialist.

[edit] Family History

  • One or more relatives with mental retardation or developmental delay, or major birth defect
  • One or more relatives an known inherited condition (such as cystic fibrosis, Huntington disease, Marfan Syndrome, neuofibromatois, or one of the 3,000 other known conditions)
  • One or more relatives with early death due to known, or unknown, medical conditions
  • Couples concerned about a genetic conditions that occurs with higher frequency in their ethnic group

[edit] Adult Onset Conditions

  • One or more relatives with conditions in which the age of onset was earlier than is typical for the condition (cancer, cardiovascular disease, dementia or other conditions)

[edit] Childhood / Pediatric Developmental or Growth Delay

  • Children with a genetic condition, diagnosed through newborn screening or other method(s)
  • Children with developmental or growth delays that may be due to an inherited condition or birth defect
  • Children with major birth defects - developmental alteration severe enough to require medical intervention, with potentially long-term medical and/or psychological impact. For example: spina bifida, omphalocele, bilateral cleft lip/palate, anopthalmia

[edit] Pregnancy and Reproductive Issues

  • Pregnant women who will deliver a child after they are 35 years of age
  • Women who have experienced multiple pregnancy losses, including babies who died in infancy
  • Individuals concerned about the pregnancy risks associated with their jobs, lifestyles or medical history (such as exposure to radiation, medications, illegal drugs, chemicals or infections)
  • Couples who are first cousins or other close blood relatives
  • Pregnant women at increased risk for complications or birth defects (indicated by ultrasound examinations or blood testing)


Genetic Specialists A genetic specialist can provide assistance through a variety of ways: a genetic evaluation, a genetic counseling session, or a formal or informal consultation.

A genetic specialist can provide a more accurate assessment of the risk, or confirm the diagnosis of a genetic disease. A diagnosis may be made through a clinical examination, genetic testing, or these combined with the family history. Genetic specialists are able to provide management options or referrals to specialists as needed; provide prognosis (long-term outcome), treatment, and management information to primary care practitioners about a genetic condition, and recommend educational materials to patients and families.

One of the cheapest genetic tests is a good, three generation family history.

The primary genetic specialists for referral are clinical geneticists and genetic counselors, who are trained to take and evaluate a family history. While these specialists can play a major role in the diagnosis and education of family members with a genetic disorder, other medical specialists may be required for appropriate treatment or intervention such as surgeons, nutritionists, social workers, psychologists, and occupational therapists. The requirements for a referral will vary from system to system. In general, a genetic referral requires the following information:

  • Patient information (medical records and history)
  • Name and address of the referring health care provider
  • Reason for the referral
  • Information about the suspected diagnosis, if known
  • Family history (usually 3-generations with diagnoses, age of onset, and other information about affected individuals)


Certification of Genetic Specialists The American Board of Genetic Counseling (ABGC) serves as the official credentialing organization for the genetic counseling profession in the United States and Canada. The American Board of Medical Genetics (ABMG) certifies clinical geneticists (M.D. or Ph.D.).

ABGC and ABMG both establish the standards of competence for clinical practice through accreditation of graduate programs in genetic counseling and medical genetics, and advance the role of genetic counselors and geneticists in healthcare through the certification and recertification of qualified professionals. The letters, CGC after their name indicates that they are a ABGC Certified Genetic Counselor. You can locate a certified ABGC genetic counselor / ABMG certified physician through ABGC, http://www.abgc.net, ABMG, http://www.abmg.org, the National Society of Genetic Counselors (NSGC), http://www.nsgc.org, the American Society of Human Genetics (ASHG), http://www.ashg.org, or through the American College of Medical Genetics, http://www.acmg.net

[edit] References

Genetic Alliance. 2007. Understanding Genetics: A Guide for Patients and Health Care Professionals. http://www.geneticalliance.org/ws_display.asp?filter=understanding.genetics.download

[edit] External Links

American Board of Medical Genetics (ABMG) http://www.abmg.org

American Board of Genetic Counseling (ABGC) http://www.abgc.net

National Society of Genetic Counselors http://www.nsgc.org/resourcelink.cfm

Cancer Genetics Service Directory http://www.cancer.gov/search/genetics_services/

March of Dimes–Genetics and Your Practice http://www.marchofdimes.com/gyponline/index.bm2

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