By ESTIE ROSE
NEW YORK (JTA) — 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, Tisha b’Av, which just passed. While we fast and remember all of our hardships and trials during Tisha b’Av, this week, beginning at sunset Thursday, we will engage in mirth, and 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 one 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” — individuals 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, approximately one in three Ashkenazi Jewish individuals 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 individuals being tested are not told what diseases they carry but rather only if they are genetically compatible with a potential spouse; by genetically compatible, meaning that both prospective partners are not carriers of the same disease. Other programs provide “open” screening — those being screened are told their results and provided guidance by 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 relationships.
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 pregnancy occurs. Why? Lack of awareness is often the reason. But many young adults who are aware of the availability of carrier screening feel a sense of invincibility and never think their child will be the one born with one of these diseases, especially since most of these diseases are rare and unfamiliar.
Plus, since screening for the current panel of Jewish genetic diseases can cost as much as $6,000 if performed in a commercial lab and many insurance policies don’t cover the costs until pregnancy, many couples decide to wait. What happens, however, if a couple discovers that both are carriers after the woman is already pregnant? Very difficult decisions, many that run counter to one’s own ethical and religious beliefs, need to 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 one’s 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) to select against specific Jewish genetic diseases.
To prevent costs from being a barrier for young adults before conception, most screening organizations have relationships with commercial laboratories to make screening significantly more affordable. Many also provide full subsidies to all uninsured patients who express financial difficulties.
Most carrier screening programs also provide detailed one-on-one counseling sessions with a genetic counselor. The counselor explains how the Ashkenazi Jewish population is more prone to certain diseases that result from genetic mutations present in this population and 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 as the genetic mutations will continue to be passed down from generation to generation. Since carriers do not show signs or symptoms of the disease, the only way one learns if he or she is a carrier 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 one’s level 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.
(Estie Rose is a genetic counselor with Montefiore Medical Center/Albert Einstein College of Medicine in New York and with the Program for Jewish Genetic Health of Yeshiva University.)