JScreen has made access to genetic carrier screening easier than ever. A national effort based out of Emory University’s Department of Human Genetics, the JScreen genetic screening program is the first of its kind. It can be used to screen for more than 200 different genetic conditions, including those most common in Jewish populations, with an easy and convenient at-home saliva test. Let’s clear up the most common genetic screening misconceptions.
You only have to be tested once. Each pregnancy is an independent risk. Everyone should be screened before they start their family. If you’ve never had genetic screening and already have one healthy child, you should get screened before planning baby number two. Even if you have been screened, it’s important to make sure your disease panel is up-to-date before growing your family: a lot of diseases have been added in the past few years.
Tay-Sachs is the only Jewish genetic disease. Twenty years ago, the only disease commonly screened for was Tay-Sachs. With advances in technology, many diseases have been identified that occur with increased frequency in the Ashkenazi, Mizrahi and Sephardi communities. Examples include cystic fibrosis, familial dysautonomia and Gaucher disease.
Genetic testing is time-consuming and expensive. You can now screen affordably at home using saliva because of a national non-profit initiative called JScreen. This program allows people from anywhere in the United States to access screening from the comfort of their own homes, with genetic counseling provided over the phone once the results are ready.
You only have to be tested if there is a family history of genetic disease. Of babies born with a devastating genetic disease, 80 percent have no family history of that disease. Most of the diseases that are screened for are recessive, meaning it takes two carriers of the same disease to potentially pass it on. Carriers are healthy and do not have symptoms of the disease. It’s not until they have a child with another healthy carrier that they know. The only way to know your carrier status is to get screened or to have an affected child.
Only Ashkenazi Jews need to be tested. There are many diseases that are specific to country of origin. This is even true for those with Sephardi and Mizrahi ancestry. Some examples of these include beta Thalassemia, Familial Mediterranean Fever and inclusion body myopathy.
Couples who are both carriers should not have children. The great news is there are viable options to still have a healthy baby even if couples are both carriers for the same disease. For example, through IVF with pre-implantation genetic diagnosis, a couple is able to have their own biological baby who is not affected by the disease.
Every one of us should take it upon ourselves to become an ambassador of genetic screening by telling a friend, family member or colleague. We can help save lives by making genetic screening top-of-mind for the Jewish community. To learn more about JScreen, to request a screening kit, or to bring JScreen to your community, visit JScreen.org.