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. While we fast and remember all of our hardships and trials during Tisha B’Av, this week we will engage in mirth, and celebrate love and joy. Many will wed, and according to Jewish lore many 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 themselves are not affected with a specific disorder, but whose offspring are at risk if these carriers marry individuals who also are carriers for the same disorder. If both members of a couple are carriers for the same disease (“carrier couples”), there is a 1 in 4 chance that each of their children will be affected with that disease. Based on my experience as a genetic counselor, approximately 1 in 3 Ashkenazi Jewish individuals who undergo screening will be identified as carriers for at least one Jewish genetic disease. In addition, approximately 1 in 100 couples will be a carrier couple.
Unfortunately, there still are Rabbis – and physicians for that matter – even in the New York metropolitan area, who will 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 screenees are not told what diseases they are carriers for, but rather, only if they are genetically compatible with a potential spouse; by genetically compatible, meaning that both prospective partners are not carriers for the same disease. Other programs provide “open” screening, where screenees 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 fortunately, 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 that their child will be the one born with one of these rare diseases, especially since most of these diseases are rare and unheard of. And with many insurance policies not covering screening until pregnancy – and screening for the current panel of Jewish genetic diseases can cost as much as $6,000 if performed in a commercial lab – many couples decide to wait until pregnancy, since their health insurance policies could ultimately cover the costs at that time. However, what happens if a couple discovers they both are carriers once the woman is already pregnant? Very difficult decisions, many which run counter to one’s own ethical and religious beliefs, need to be made in a short timeframe. It is a heartache that could easily 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 before, including in-vitro fertilization with a procedure called pre-implantation genetic diagnosis (PGD), to select against specific Jewish genetic diseases.
To prevent cost 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, Ashkenazi Jewish diseases will never be eradicated, as the genetic mutations will continue to be passed down from generation to generation. Since carriers of these diseases do not, and will not, show signs or symptoms of the disease, the only way for one to find out if he or she is a carrier is to undergo genetic testing or to have an affected child. And with new diseases routinely being added to the panel that can be tested for, it is critical that you check with your physician between pregnancies to make sure your tests are all up-to-date.
Regardless of one’s level of observance, all Ashkenazi Jews share genetic similarities…and some share genetic mutations. A simple blood test can save lives and can help prevent diseases from destroying families.
About the author: Estie Rose, MS, CGC, is a genetic counselor with Montefiore Medical Center/Albert Einstein College of Medicine, and the Program for Jewish Genetic Health (PJGH) of Yeshiva University. To reach Ms. Rose, or for more information about the PJGH’s Jewish genetic disease carrier screening program, email firstname.lastname@example.org.