Roadmap to Genetic Services:
The
Who /
What /
Why /
Where /
When /
How
of
Clinical Genetic Services
1. What are Genetic Services?
Genetic services include genetic counseling, genetic testing, or a genetic evaluation by a M.D. clinical geneticist.
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Genetic counseling is a service to help individuals and families translate
scientific knowledge into practical information. A genetic counselor works with a person or family that may be at
risk for an inherited disease, assessing their chances of having children who may be affected with a genetic
condition, the implications of an abnormal pregnancy outcome, or predisposition to a common condition such as
cancer. Providers of genetic counseling include:
- Genetic counselors who have followed a specific educational curriculum and who are certified by the American Board of Genetic Counseling
- Doctors or nurses with special training in the area of genetics
Genetic counselors work in a variety of different settings. More information can be found at National Society of Genetic Counselors or on the Careers in Genetics page.
Frequently Asked Questions about Genetic Counselors and the National Society of Genetic Counselors can be found at: http://www.nsgc.org/consumer/faq_consumers.cfm
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Genetic testing examines a sample of blood or other body fluid or tissue for biochemical, chromosomal, or genetic markers to diagnose genetic disease or to provide genetic counseling. A primer on genetic testing can be found at the National Human Genome Institute
Click here to learn about uses of genetic testing. An explanation for how genetic testing is done can be found at the Genetic Home Reference (U.S. National Library of Medicine, NIH).
There are many types of tests that may be performed to determine whether an individual has a health problem with an underlying genetic cause, including:
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A Genetic Evaluation is where a genetics healthcare professional or team of professionals (usually a physician called a Clinical Geneticist and possibly a genetic counselor) meets with an individual or family to diagnose, confirm, or rule out a genetic condition. Like other physicians, consultations usually take place in a doctor's office, hospital, genetics center, or other type of medical center. A detailed family medical history is obtained to help determine whether a condition has a genetic component. A physical examination and laboratory tests (usually from a small sample of blood) may also be performed. Information about the condition in question, the inheritance, recurrence risks (chances for the disorder to be seen in future pregnancies), management and treatment (when available) are provided in a supportive environment. Information is provided so that individuals can make informed decisions about their healthcare that are consistent with their own beliefs, traditions, and feelings about their situation. Written materials (fact sheets, pamphlets, etc.) and support group resources are also provided to patients, and a summary letter is usually sent to the patient's referring healthcare provider.
The American Association of Pediatrics has a fact sheet that explains what a pediatric geneticist is.
GeneTests from the University of Washington provides a detailed list of topics that are often discussed during a genetics consultation.
2. Who Should Consider Genetic Services and When?
Genetic services - genetic counseling, genetic testing, or a genetic evaluation by a M.D. clinical geneticist and or a genetic counselor- may be considered for many different reasons. Click on the links below to find reasons for who should consider genetic services.
3. Where can I find Genetic Services?
Genetic services are usually available in large hospitals or medical centers. The local phone book or physician directory may help you identify a genetic service provider in your area. Genetic Services are usually listed under 'specialists' in most health insurance plans. For this reason, a primary care physician may need to
write a referral prior to the visit. Whether or not you have insurance or Medicaid, your doctor can help you locate genetic healthcare professionals in your area.
4. How do Genetic Services help Individuals and Families? Why would someone consider Genetic Services?
Genetic services can provide the following:
- Information about your family history and any genetic risk factors
- The diagnosis of a genetic disorder by physical examination and/or genetic laboratory testing
- How/why a disorder occurred (in most cases)
- The chance for the disorder to reoccur in the family
- The chance for other family members to have the disorder or pass it on
- The management and treatment of the disorder
- Support groups for the disorder
- Connections to other families who have a child with a similar/same disorder
