Genetic Counseling

Who provides genetic counseling?
Genetic counseling is usually provided by a healthcare professional who has completed a master?s program that combines training in medical genetics and in developing counseling skills. After completing training, a genetic counselor goes through a board certification process, which is aimed at maintaining quality of the care provided. Less commonly, genetic counseling is provided by another healthcare professional, such as a nurse or physician with a special interest and additional training in genetics. A genetic counselor does not tell an individual or couple what they should do; this is up to the individual or couple to decide for themselves. What a genetic counselor can do is provide medical and genetic information in an understandable way that can empower individuals to make informed choices. A genetic counselor is trained to be respectful of a counselee?s own values and beliefs. She can help an individual or couple to identify these and incorporate them into an education or decision-making process.

What happens in a genetic counseling session?
Each genetic counseling session is different. There may be different indications for counseling. Even when the indication is the same, different individuals and families have unique questions, concerns, and issues.

Even before meeting with a family, a genetic counselor will gather pertinent medical records. In a typical genetic counseling session, a detailed family medical history, called a pedigree, is taken. The pedigree can identify family members who may be at risk of having thalassemia disease or trait and should therefore be tested. A genetic counselor may also identify a history of other conditions that may have a genetic component. In many such cases, the genetic counselor can provide information about the condition in question. Sometime, a referral to a medical geneticist or other specialist for evaluation and additional information may be indicated. In addition to the family history, a genetic counselor will also provide general information about thalassemia. A genetic counselor is specifically trained to assess and explain the risk of occurrence (or recurrence) of thalassemia in the family. Testing options that give additional information about risk are reviewed; these may include partner testing, prenatal testing, or testing of other family members. The benefits and drawbacks of each option can be reviewed in detail, and the genetic counselor can assist the individual or couple in making the testing choices most appropriate to their personal circumstances and values. Genetic counselors assist in coordinating testing and are available to review testing results. A genetic counselor can also provide supportive counseling and referrals to additional community resources when needed. Finally, a letter summarizing the session and the plan of care is written and forwarded to the referring physician and/or the counselee.
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