Einstein Victor Center for the Prevention of Jewish Genetic Diseases Advises: Get Your Inside Story
By Jeff Meade
Screening for Tay-Sachs—a fatal neurological disease affecting young children—has been widely embraced within the Jewish community for decades and is regarded as one of the true success stories in the field of genetic testing.
While Tay-Sachs is by far the best known of Jewish genetic disorders, it is far from the only one.
That’s why the Einstein Victor Center for the Prevention of Jewish Genetic Diseases strongly recommends that couples of Jewish heritage get screened to determine whether they are carriers for diseases with a high prevalence within the Jewish community. (Carriers are people who have one copy of a mutated gene that could be passed along to their children. People who are carriers do not have the actual disease.)
Among the specific Jewish genetic diseases the Victor Center screens for is Gaucher Disease, a metabolic enzyme deficiency with a carrier rate of 1 in 200 in the general population, but up to 1 in 10 to 15 among Ashkenazi Jews (Jews of Eastern European descent). Another example is Fanconi Anemia, an inherited bone marrow disorder with a carrier rate of 1 in 300 in the general population, but about 1 in 100 among Ashkenazi Jews.
Getting the most detailed read on your particular genetic makeup can entail screening for more than the minimum of 19 tests, however.
“The current panel we offer, assuming someone were to choose to screen just the Jewish diseases, includes 39 diseases,” says Victor Center genetic counselor Faye Shapiro, MS, CGC. “Basically, the panel includes diseases that occur with about a 1 percent or higher carrier frequency in Jewish people. They may occur at that same frequency in the general population, or they may be higher or lower in other ethnic groups. But as long as they fall into that range of approximately a 1 percent carrier rate or higher in the Jewish population, then they would be included in the Jewish panel. None of these are necessarily just Jewish diseases. Any disease can occur in any ethnic group.”
Depending on the lab where couples get their screening, there might be one price for the basic 19 tests and another price for the additional tests—or one price that will cover all. (Check with your insurance provider to find out exactly which testing is covered.)
Shapiro says screening of couples within this community is not as high as it should be. The reason: Lack of knowledge, both among prospective parents and their doctors.
“Everyone has heard of Tay-Sachs,” says Shapiro, “or I would hope that most Jewish people know that, if they’re Jewish, they need to be screened for Tay-Sachs. The problem is there is no consistency among providers about how many diseases Jewish people should be screened for. Different medical groups have different guidelines for Jewish screenings.”
Of those who are concerned about Jewish genetic diseases, just who should be screened?
Victor Center guidelines recommend screening for Jewish genetic diseases under the following circumstances:
•If you are Jewish or have at least one Jewish grandparent
•If you are the Jewish member of an interfaith or interethnic couple (in which case, the Jewish member is screened first, and if the screening indicates that the Jewish member is a carrier, then the non-Jewish member is tested)
•If you are considering the use of egg or sperm donation where you or the donor has Jewish ancestry
Because screening technology changes and improves all the time, resulting in higher detection rates, updating screening between pregnancies is also recommended, if new diseases have been added to the panel.
If both parents (or donors) test positive for a Jewish genetic disease, there are options to improve the chances of giving birth to a healthy baby.
“If both parents come back as carriers for different diseases, then they are not at high risk to have a child affected with either disease,” says Shapiro. “But when they’re both carriers for the same disease, let’s say for Tay-Sachs disease, then the couple has a 1 in 4 chance with each pregnancy, to have an affected child. If the wife is not pregnant yet, there are a few different options. They can use an egg or sperm donor (from a non-carrier), they can choose adoption, or the couple can choose to do ‘pre-implantation genetic diagnosis (PGD).’ That’s where the couple gets pregnant through in vitro fertilization (IVF) and the embryos are tested for disease status before they’re implanted in the mom. Only the ones not found to have the disease would be used for implantation.”
There’s a lot for parents to think about, but for Shapiro, working as a genetic counselor at the Einstein Victor Center and walking couples through the process has always been rewarding.
“I always liked genetics in school and I took a class in undergrad called ‘Topics in Human Genetics’ that was all about genetic counseling as a profession. I thought it was a great option for me. It was a two-year master’s degree program that I could begin right after college, and I was ready to go. I’ve been a genetic counselor for 25 years now, minus some maternity leaves along the way.
“It’s interesting because you always learn new things. The genetics field is always changing and evolving. What we learned in graduate school is obsolete at this point. It’s gratifying because at every step of the way, regardless of what field of genetic counseling or specialty of genetic counseling I’m doing, I’m always helping couples and families learn more information. It’s empowering.”