As Jews, we don’t have many light-hearted holidays, but this week we’ll celebrate one of them, Tu B’Av. Casually known as the Jewish Valentine’s Day, Tu B’Av is the counterbalance to the most difficult of all our holidays, Tishah b’Av, which just passed.
While we fast and remember all of our hardships and trials during Tishah B’Av, this week, beginning at sunset Thursday, we will have fun as we celebrate love and joy. Many will wed and many, according to Jewish lore, will meet their matches on Tu B’Av.
But as with all Jewish holidays, this one still must come with a warning, albeit a warning deeply rooted in modernity.
As young Jews meet their mates and consider marriage, they should be told about the importance of undergoing carrier screening for Jewish genetic diseases, and act on it.
Carrier screening identifies “carriers” – people who are not affected with a specific disorder but whose offspring are at risk if the carriers marry carriers of the same disorder. If both members of a couple carry the same disease (“carrier couples”), there is a one in four chance that each of their children will be affected with the disease. Based on my experience as a genetic counselor, I know that approximately one in three Ashkenazi Jews who undergo screening will be identified as carriers for at least one Jewish genetic disease. In addition, approximately one in 100 couples will be a carrier couple.
Unfortunately, there still are rabbis – and physicians for that matter – who neglect to stress the importance of being screened to prevent from giving birth to a child with one of these horrible, and often fatal, genetic diseases.
There are a number of options for genetic testing. Some are “closed,” where the people being tested are not told what diseases they carry but rather only if they are genetically compatible with a potential spouse; by genetically compatible, we mean that the prospective partners do not both carry the same disease. Other programs provide “open” screening – people being screened are told their results and can receive guidance from qualified genetic counselors.
As a genetic counselor, my worst days are when I have to tell a young couple that the baby they are waiting to welcome into the world will be born mentally disabled, with a poor quality of life, and/or even worse, with a short life span. I have seen firsthand how sick children who need around-the-clock care or, worse yet, a child who dies young can do irreparable damage to what used to be the most loving and committed relationship.
Fortunately, the diseases that hit the Jewish community the hardest can be avoided through a simple blood test. And Jewish genetic disease carrier screening is significantly more affordable than it was just last year.
Unfortunately, many young couples choose to wait to undergo carrier screening until the wife becomes pregnant. Why? Lack of awareness often is the reason. But many young adults who know that carrier screening is available feel a sense of invincibility. They never think that their child will be the one born with one of these diseases, especially because most of these diseases are rare and therefore unfamiliar.
To make things worse, screening for the current range of Jewish genetic diseases can cost as much as $6,000 if it is done by a commercial lab, and many insurance policies don’t cover the costs until pregnancy. So many couples decide to wait. What happens, however, if a couple discovers that both are carriers after the woman already is pregnant? Very difficult decisions, many that run counter to the couple’s ethical and religious beliefs, must be made in a short time. It is a heartache that easily could have been avoided.
Today’s Jewish genetic disease carrier screening organizations advocate that individuals and couples undergo screening before conception, since being aware of their carrier status before conception allows couples to make informed family planning decisions. And today there are more family planning options for carrier couples than ever, including in-vitro fertilization with a procedure called pre-implantation genetic diagnosis (PGD) that can select against specific Jewish genetic diseases.
To prevent costs from being a barrier to young adults before conception, most screening organizations have relationships with commercial laboratories that make screening significantly more affordable. Many also provide full subsidies to all uninsured patients who have financial difficulties.
Most carrier screening programs also provide detailed one-on-one counseling sessions with a genetic counselor. The counselor explains how Ashkenazi Jews are more prone to certain diseases that result from genetic mutations and he or she makes recommendations for genetic testing based on personal and family history.
As wonderful as today’s medical technology is, diseases prevalent among Ashkenazim will never be eradicated because the genetic mutations will continue to be passed down from generation to generation. Since carriers do not show any signs or symptoms of the disease, the only way you can learn if you are one is by undergoing genetic testing or having an affected child. And with new diseases routinely being added to the testing panel, it is critical that couples check with their physicians between pregnancies to ensure that their tests are all up to date.
Regardless of their levels of observance, Ashkenazim share genetic similarities – and some share genetic mutations. A simple blood test can save lives and help prevent diseases from destroying families.
JTA Wire Service