Genetic counselors specialize in the study of inherited diseases and can evaluate your risk of getting certain conditions based on your personal and family history.
Here are the 6 things the genetic counselor does for families:
1. Predicting risk for certain conditions
Since some disorders run in the family, genetic counseling can help you take steps to prevent them from occurring or monitor yourself if you have inherited the gene.
These conditions include hereditary breast and ovarian cancer (HBOC) syndrome, the susceptibility to intestinal cancers in case of familial adenomatous polyposis, familial hypercholesterolemia, thalassemia, etc.
2. Prenatal genetic screening
This is often recommended for women who have recurrent miscarriages, stillbirths, or difficulty conceiving. Sometimes, your gynecologist may refer you to a genetic counselor before they start assisted reproductive treatment or if you are older than 35 at the time of conception.
You may be asked to undergo genetic screening and counseling if certain conditions run in your or your partner’s family, for example Down’s syndrome, motor neuron diseases (inherited progressive paralysis of muscles), multiple sclerosis, mitochondrial diseases (specifically transmitted from mother to children), cystic fibrosis, certain cancer syndromes, Huntington’s disease, or hereditary blood disorders (such as sickle cell anemia, thalassemia and aplastic anemia).
3. Pregnancy counseling
You may have to undergo genetic screening and counseling if your pregnancy sonograms detect any abnormality in the fetus. Abnormal results on chorionic villus sampling or amniocentesis require genetic testing as well.
4. Premarital genetic screening
Many facilities offer premarital genetic screening. This helps detect asymptomatic carriers for diseases, such as sickle cell anemia, thalassemia, cystic fibrosis, and Tay-Sachs disease.
When two asymptomatic carriers have a baby, the chances that the baby will be severely affected by the same condition is 25%, and chances that they will be moderately affected if a carrier of the gene is 50%.
5. Counseling in cases of exposure to teratogenic drugs
If you have been exposed to drugs (vitamin A analogs, certain antibiotics, nonsteroidal anti-inflammatory drugs, thalidomide, chemotherapy drugs) or X-rays that may affect your unborn baby, you may need to undergo genetic counseling to determine if the baby will be affected.
6. Caring for an affected child in the family
In cases where your newborn is diagnosed with a genetic disorder after birth, you may be required to undergo testing as well as counseling to predict the outcome of the next pregnancy.
How does genetic counseling work?
Genetic counselors conduct genetic tests on you and their partner, unborn baby, and newborn if needed. Sometimes, they may test your immediate family. They also counsel you regarding the accuracy and sensitivity of the tests and interpreting the results.
If you have a bad genetic history, a genetic counselor can help you assess the chances of the disease being passed on to your baby and the extent of its severity. Certain genetic diseases may sometimes skip a generation or even manifest in a particular gender. You may also have a genetic disease that does not pass to your children.
Sometimes, you or your partner are carriers (carry genes of a genetic disorder and are not aware). In this case, a counselor can explain the risks of passing on a condition to the baby. They will guide you regarding caring for a child with a genetic condition and special interventions they may require. They can refer you to special clinics or get you enrolled in clinical trials for the drugs, which are under development and may potentially cure the condition. They can also answer medical questions, help you deal with the stress of the diagnosis, and offer resources.
What are the downsides to genetic testing?
Genetic counseling helps reveal a genetic disorder, but it doesn’t cure it. In some cases, a diagnosis can cause severe anxiety and stress, especially if the condition is not treatable.
For example, in cases where a parent or relative has cancer and you have inherited the gene, you can do nothing but monitor your condition. This can be a harrowing experience for you and your family and can affect interpersonal relationships or the way you live your life in general.
Furthermore, some test reports may be inconclusive or uncertain. There is also a possibility of receiving false-positive test results.
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Geisinger Health. 5 Reasons Your Doctor May Recommend Genetic Counseling During Pregnancy. https://www.geisinger.org/health-and-wellness/wellness-articles/2018/04/12/18/34/5-reasons-your-doctor-may-recommend-genetic-counseling-during-pregnancy
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