Genetic Screening

Many years ago, when I was considering having a baby, I took a few precautions. I got tested to see if I ever had rubella. Knowledgeable about special needs, I knew having rubella when pregnant could affect the development of the fetus. Turns out I did not have antibodies and needed to get vaccinated.

Genetic testing was just beginning and the Jewish community had begun a serious campaign for people to be screened for Tay Sachs. I was eager to sign up. One of my college friend’s sisters had given birth to a baby with Tay Sachs so I knew about this disorder in a personal way. Both my husband and I were tested and neither of us were carriers. Years later, my husband’s daughter discovered before giving birth to her third child that she was a carrier for Canavan’s disease. Her husband was not. When our daughters were tested before becoming pregnant, we learned that one of them carries this gene as well. Her husband is not a carrier.

What would any of us have done had we and our spouses tested positive?
Luckily we weren’t faced with this dilemma. According to the Victor Center for Jewish Genetic Diseases in Philadelphia, “a number of genetic disorders occur more frequently in certain ethnic populations. In the Ashkenazi Jewish population (those of Eastern European descent), it has been estimated that one in four individuals is a carrier of one of several genetic conditions.” If both parents are carriers, the baby has a 25% chance of having the disease, a 50% chance of being a carrier and a 25% chance of not having the gene at all.

One of my daughter’s friends recently delivered a beautiful baby boy. Problems developed with feeding and weight gain. Then they noticed low muscle tone. They continued to have tests done and learned that their baby has Familial Dysautonomia, a genetic disease. About one in 30 Jews of Ashkenazic descent are carriers. When I asked my daughter if her friend had done genetic testing, she told me she had, but was told she wasn’t a carrier for any genetic diseases. Based on this information her husband never got tested. Obviously, both she and her husband are carriers of the gene, but the doctor’s office had failed to tell her this positive result, although it was contained within the report.

What would she and her husband have done? Who knows, but she and her husband had the right to be armed with information – to think through the implications of both being carriers of this gene – to consider their options – to decide together what they were ready to face. That’s why one undergoes genetic screening – to have information to make very difficult decisions when faced with very difficult results.