1. Construct a family history or pedigree with entry of all medical problems.

2. Analyze the family history for genetic and/or birth defect risk.

3. Assess and interpret the risk for occurrence (or recurrence) of genetic conditions in the family.

4. Discuss the nature of the condition (s), including the contribution of heredity.

5. Discuss the options available to reduce recurrence risk(s), including testing available.

6. Relay risks and benefits of each option available with careful attention to patient comprehension .

7. Assist in selecting the option appropriate for an individual or family.

8. Provide supportive counseling and/or referral to community resources when appropriate.

9. Coordinate tests performed, when indicated.

10. Write a summary letter documenting the counseling session, outlining the plan of care, and send it to the patient and/or referring physician.


1. One third (33%) of patients referred for genetic counseling have other genetic issues in their families that need to be addressed. These issues are identified by taking a detailed family health history.

2. To avoid unnecessary testing it is important to separate the genetic from the non- genetic issues in the family history.

3. The risk for a genetic condition to occur or recur must be conveyed with total accuracy to the patient, requiring a depth of knowledge of genetics and good communication skills.

4. Patients need to understand the meaning of a diagnosis (range of severity) and how it is inherited to be able to make a decision about whether they want to be tested for it and/or whether they want their pregnancy tested for it.

5. Many options are available to individuals and couples at risk for a genetic disease in the family including, but not limited to: carrier screening, adoption, egg/sperm donation, and prenatal testing.

6. Each option has risks, benefits, and limitations that patients need to understand in order to choose the option appropriate for them.

7. Much of the information communicated to patients can be confusing. Assistance with decision making requires depth in counseling skills and a non-directive approach that is respectful of patient feelings and beliefs.

8. Counselors will often place a patient in touch with other health care professionals or family support groups should the patient need more information.

9. Genetic testing is sometimes complex and involves: obtaining screening test results, documenting the correct diagnosis, and coordinating the sample study properly.

10. Documentation of the counseling session ensures an accurate record for the patient and/or the referring physician. It becomes a medical-legal document for the patient chart.

Beth Balkite, M.S., Certified Genetic Counselor
Genzyme Genetics, August 1996
All Genzyme Genetics Genetic Counselors follow the American College of Obstetrician and Gynecologists (ACOG) and the American Board of Medical Genetics (ABMG) guidelines for carrier screening, prenatal testing, and counseling for genetic disorders.

Further information:

Information for genetics professionals, University of Kansas Medical Center

Link that takes you to the Genetic Support Groups  Link that takes you to the Genetic Professional Home Page  Link that takes you to the Genetics Education Center Home

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Debra Collins, M.S. CGC, Genetic Counselor,


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