By Hillary Kener Regelman
One of the first mitzvot in the Torah is to “be fruitful and multiply” (Gen. 1:28). In light of modern medicine, many rabbis today interpret the verse to mean “Be fruitful and multiply … but be cautious and get genetic testing first!” Since the 1970s, tremendous innovations in the field of human genetics have opened up a world of newly discovered diseases, testing, reproductive technologies, and treatments. These advances have also opened up new choices and moral dilemmas.
Here’s a recap of Genetics 101: Our DNA is made up of thousands of genes that we inherit from our parents. We have two copies of each gene—one from each parent. Each gene has a unique job in the body and must function properly for us to be healthy. An alteration in a gene that affects its function is called a mutation. For many genetic diseases, when a person has a mutation in a particular gene, he or she is a healthy carrier and has no symptoms because that person has a second working copy of the gene to compensate. However, when someone inherits mutations in the gene from both parents, they are at risk to have the disease. Indeed, carrier couples have a one in four, or 25 percent, chance of having an affected child in each of their pregnancies. Diseases that are inherited this way are called recessive diseases.
Some diseases are more common in certain ethnic groups than in others—for example, sickle cell disease is more common among African-Americans, and Tay-Sachs disease is more common among Ashkenazi Jews. Tay-Sachs disease is well known in Jewish circles because, over the past few decades, Jewish communities around the world have united to educate about the prevalence of this disease and to organize community-wide testing. In fact, many rabbis require Tay-Sachs testing for couples who plan to marry. Screening on such a large scale has worked so well that the prevalence of Tay-Sachs disease in Jews has plummeted by 90 percent in the past 40+ years.
When Rabbi Moshe Feinstein was asked about his views on Tay-Sachs testing in the 1980s, his response was clear: Not getting tested is like crossing the street with your eyes closed—an obvious danger. We have come a long way since this question was posed, and screening is now possible for more than 200 diseases, but his opinion still applies today.
One of the biggest myths is that genetic testing is relevant only to Ashkenazim. The truth is that Sephardim and Mizrahׅim also are at risk for a number of genetic diseases—for example, hereditary inclusion body myopathy is common among Iranian Jews, and thalassemia is common in Jews from Mediterranean regions. Nowadays, genetics professionals believe that anyone planning a pregnancy should be screened, regardless of ethnic background. This makes genetic testing equally as important for converts, those in interfaith relationships, and LGBTQ individuals who are planning on using a donor egg or sperm to build their families.
What Is JScreen?
JScreen is a national nonprofit initiative dedicated to the prevention of genetic diseases. Through extensive educational campaigns, JScreen reaches rabbis, physicians, and persons of childbearing age with the message of the importance of thorough genetic testing before having children or expanding one’s family. Launched almost seven years ago out of Emory University’s Department of Human Genetics, JScreen has tested thousands of individuals and couples from all 50 states. Accessible, affordable, and comprehensive are the key hallmarks of our program.
When to Do Genetic Testing
At what stage in life should one consider genetic carrier testing? This is really a personal choice with a multitude of options. The consensus in more traditional Orthodox circles is often to test before dating or when the relationship becomes serious. Others feel that the right time for testing is before an engagement, and some believe that after marriage is the optimal time.
At JScreen, we do not recommend testing at a specific point in a relationship, but strongly encourage people to get tested before pregnancy. This allows people to use the knowledge gained from the results to make informed decisions about family planning. High-risk couples receive genetic counseling and are given multiple options. Some may choose disqualification before dating or even breaking up an ongoing relationship. But thanks to advances in reproductive technology, couples are also given options to use in vitro fertilization (IVF) with genetic testing of embryos, or to use an egg or sperm donor who is not a carrier, to maximize their chances of having healthy children. Other couples may choose to get pregnant naturally, test the fetus in the early stages of pregnancy, and use the results to decide about proceeding with the pregnancy. Some couples will decide to “roll the dice” with each pregnancy, and others will choose not to have biological children. Every couple is different and will base their decision on a variety of factors, including severity of the disease, treatment options, financial resources, and personal, religious, and ethical concerns.
There is a mitzvah in the book of Devarim (Deut. 4:15): venishmartem me’od lenafshotekhem (to safeguard your health). Just as the medical community embodies this ethic through prevention practices such as vaccinations and mammograms, so too does the use of genetic testing keep babies from having serious illnesses. Maharat Ruth Balinsky Friedman of Ohev Sholom in Washington, D.C., remarks that genetic screening can save couples from future suffering. “If they know their genetic risks,” she said, “a couple can know if they need to pursue fertility treatments, and thereby avoid having to experience the pain of miscarriages or pregnancy termination. All couples should consider genetic screening a critical step in trying to conceive.”
The Process of Testing at JScreen
Most people who come through JScreen (approximately 75 percent) test positive as carriers for at least one disease. There should be no stigma associated with getting tested or with knowing the results. In fact, having this information can help siblings and other family members who may be unaware of their carrier status.
The process of getting tested through JScreen is now easier and more affordable than ever. Through this national nonprofit initiative, anyone 18–45 years of age can request a kit at JScreen.org, which will be mailed directly to their home. After a saliva sample is collected, the kit is mailed to the lab; several weeks later, a genetic counselor shares the results with the person tested by phone or secure video teleconference. These results allow the couple to make informed decisions when planning their future family.
Through proper education and comprehensive genetic testing, we are able to greatly reduce the suffering caused by devastating genetic diseases and to help families be fruitful and multiply for many healthy generations to come.
[box or different font] To learn more or request a test kit, visit www.JScreen.org . Follow JScreen on Instagram at @GetJScreened to stay up to date with its work.
Hillary Kener Regelman is the director of national outreach at JScreen She is the author of Fingerology: The Complete Guide to the Fingers and is active in multiple charitable organizations.
Screening on a large scale has worked so well that the prevalence of Tay-Sachs disease in Jews has plummeted by 90 percent in the past 40+ years.
At JScreen, we do not recommend testing at a specific point in a relationship, but strongly encourage people to get tested before pregnancy.
One of the biggest myths is that genetic testing is relevant only to Ashkenazim.