Hillary Kener is on a mission to ensure people know whether they’re carriers of a Jewish genetic disease that can be passed on to their children.
Kener is the director of national outreach for JScreen, a not-for-profit laboratory at Emory University in Atlanta that administers tests for 226 known Jewish genetic diseases.
While taking a genetic test to find out if you’re a possible carrier of Tay-Sachs disease, cystic fibrosis or Gaucher Disease might not sound as fun as discovering what country or village your ancestors immigrated from, it will tell you if you might pass a devastating disease onto your child.
“The only way to know if you’re a healthy carrier of one of these diseases is either to get tested or to have an affected child,” Kener said. “That’s it. DNA is invisible. There’s no way to look in the mirror and know.”
She believes this test is vital for people who may be starting a family or pondering having another child. As she explains it, the tests should be considered by anyone aged 18 to 45, but they shouldn’t be ignored by those who might have children in the future.
Why? According to Kener, it’s simple math. If two people are carriers of the same genetic disease, they have a 25% chance of passing that disease onto their children. That number doesn’t decrease based on the number of children a couple has had. Every time two carriers of the same genetic disease have a child, there is a 25% probability the child will be born with the disease and a 50% chance the baby will be a carrier of the disease.
Because these diseases require two carriers, you may be a carrier of one of the diseases and not know it.
“Eighty percent of the babies born with these diseases are born into families with no known family history, because they’re recessive genes,” Kener explained. “A person wouldn’t see it until two carriers get together. Their whole family can be carriers and they would have no idea.”
While a one in four chance might not seem that great, it’s important to note that according to JGenes Pittsburgh’s Director Dodie Roskies, when JGenes did testing in Pittsburgh, they found “almost one in two people” were a carrier of a Jewish genetic disease.
JGenes Pittsburgh partners with JScreen for testing. In the past they have tested young Jewish men and women at the University of Pittsburgh and supplied funding that allowed the South Hills Jewish Genetic Partnership to offer vouchers for reduced price testing.
Rob Goodman, director of South Hills Jewish Pittsburgh, which promoted the vouchers, recalled that the reduced-cost tests proved so popular that they sold out in close to a week. While the South Hills Jewish Genetic Partnership no longer offers vouchers, Goodman explained, they continue to assist educating the public about the importance of testing through South Hills Jewish Pittsburgh.
In the not so distant past, testing for these diseases required an invasive blood test that made many hesitant. That is no longer the case. A person now need only spit in a tube from the comfort of their home and send the test into JScreen. Approximately three weeks later, a licensed genetic counselor from the laboratory will reach out and set up a meeting to discuss a person’s test results. The process is completely compliant with the Health Insurance Portability Accountability Act (HIPAA). The results are only shared with the person taking the test and their physician.
While a doctor’s prescription is required in the state of Pennsylvania, JScreen has streamlined that process. Once registered online, a person will be asked for their doctor’s name. The laboratory will reach out to the doctor and get the prescription, eliminating the need for an office visit or additional phone calls.
JScreen believes these tests are important to every young Jewish man and woman. As a result, they’ve attempted to eliminate roadblocks that might prevent someone from taking the test. The company maintains a physician’s network to help find a doctor for those without a primary care physician.
Additionally, JScreen works to ensure the cost of the test isn’t a barrier. The kit costs $149. Kener explained that price shouldn’t be an issue. If a person is unable to afford the kit, she urges them to reach out to JScreen and they will work to get the person tested. Additionally, kits are available through Chanukah for $108, using the code 6timeschai.
While a Chanukah gift telling you if you share an eye color with your great-great-grandmother or if your fourth cousin on your father’s side had a widow’s peak might be on your list holiday list this year, it may be more important to consider getting a test for you and your partner, or your son or daughter, that will tell you if you have a one in four possibility of passing a genetic disease onto your child. The results will last longer than eight nights, and like the Maccabees, help ensure the future of the Jewish people. pjc
David Rullo can be reached at email@example.com.