Part Teacher, Part Counselor Approach to Sorting Through Complex Factors
Women are referred to genetic counselors for a variety of reasons including family history of a genetic disease, abnormal maternal serum screening (tests for chromosome abnormalities and open spine defects), and advanced maternal age (35 and older). The genetic counselors at the University of Michigan Perinatal Assessment Center (FDC) are part teacher, part counselor. In addition to providing women with all the available information about testing and options, the genetic counselors also help women sort through complex factors like religious and family beliefs in the decision-making process.
Helping Women Make Their Own Decisions
Patients are often surprised that the counselors don't give women specific instructions. "Some people expect us to make recommendations regarding testing options or management of the pregnancy, when our real objective is to educate patients so they can make those decisions for themselves," says Carrie Couyoumjian, Genetic Counselor, FDC.
Kathleen Hanlon-Lundberg, M.D., Director of the FDC, says the genetic counselors are an "integral part" of the FDC. "The genetic counselors are excellent and dedicated," she says. "They are very adept at researching clinical problems." The genetic counselors research the diseases, the testing, where the testing is available, and the likely outcomes and options, so they can present all the available information to patients.
The genetic counselors explain all of the benefits and risks associated with the testing. They also help patients understand information they have received from doctors, friends, family members, and/or books. Sometimes they have to correct misconceptions about genetic testing. For instance, some people incorrectly believe that there is one test that can test for all diseases.
Hoping for the Best, Dealing with Reality
Another important part of their job is helping women and their families deal with bad news. "Whenever someone gets pregnant, she often hopes and expects for the best," says Beth Dugan, Genetic Counselor, Clinical Coordinator, FDC. "When any kind of glitch comes up, it can be very nerve-wracking." Both Dugan and Couyoumjian agree that one of the pluses of their job is being able to spend extra time answering women's questions. Dugan says, "It is nice to be able to take time to help them with those emotional issues and not just their medical questions."
What does it mean to be a carrier?
Most of our genes are inherited in pairs with one copy coming from each parent. We all carry 5 to 7 non-working (altered) genes. For many genetic diseases, one working copy of a gene is enough to prevent disease. If an individual carries one working copy and one non-working copy of a gene, he or she is called a "carrier" for that genetic disease. If both partners carry one copy of the same non-working gene, and they both pass on this non-working copy to their baby, the baby will not have a working copy and will be affected with the disease.
How can I be screened?
Screening involves giving a blood sample.
What if both parents are carriers?
If each parent has the same non-working gene, there is a 25% chance with each pregnancy of having a baby born with the disease. It is possible to test the unborn child to see if he or she has both non-working copies.
For more information about genetic counseling, call 734-763-4264.
Reading List
The DNA Mystique: The Gene as a Cultural Icon (Conversations in Medicine and Society), by Dorothy Nelkin and M. Susan Lindee
Expecting Adam: A True Story of Birth, Rebirth, and Everyday Magic, by Martha Beck
Human Genetics: Concepts and Applications, by Ricki Lewis
Mutants: On Genetic Variety and the Human Body, by Armand and Marie Leroi
This article appeared in the April/May 05 issue of the Women's Health Newsletter. Read the issue.
