New option for Jewish genetic testing
When a Jewish couple is planning their wedding or anticipating starting a family, they probably aren’t thinking much about rare genetic conditions. But JScreen, an educational and screening program, urges couples to add genetic testing to their to-do list. And by offering home-based testing, JScreen hopes to eliminate any obstacles to this process.
Based at Emory University’s Department of Human Genetics, JScreen (jscreen.org) provides a Web-based portal for individuals to request a genetic-screening kit. Participants provide a saliva sample — most genetic tests involve a blood draw — and mail it back for analysis. Before receiving the kit, participants must view an educational video and enter health information that is reviewed by an Emory genetic counselor.
“We all carry [recessive genes for] various genetic diseases. We just don’t know what they are,” said Karen Grinzaid, a genetic counselor and instructor at Emory University School of Medicine and the senior director of outreach initiatives for JScreen.
The problem occurs when both parents are carriers of the same disease. In that case, each of their offspring has a 25 percent chance of manifesting the condition.
According to Emory’s Department of Human Genetics, about one in five Ashkenazi Jews in the U.S. carries a genetic disease. However, most don’t have a family history of the disease and are unaware of their status of carriers. In fact, 80 percent of babies with genetic diseases are born to parents with no known family history of that disease.
“The only way to know if you are a carrier for a Jewish genetic disease is to have an affected child or be screened,” Grinzaid said. “For the vast majority of couples, genetic screening gives couples reassurance that they’re not at risk.”
Saliva samples returned to Emory’s lab are tested for 40 diseases prevalent in the Jewish community. Nineteen of them are more common in Ashkenazi populations, and 21 of them are common in Jews of Sephardic or Mizrahi (Middle Eastern) origins. Testing for an additional 47 diseases found in the general population is available at no extra cost. Many of the diseases included in the tests are fatal, and all impact the individual’s quality of life.
Results take less than four weeks. If they are negative, individuals are notified via email. Those who are identified as carriers speak via phone or videoconference to an Emory University genetic counselor about their results and options. They might also be referred to a local genetic counselor for more extensive counseling. Grinzaid said that about 2 percent of couples will be found to be carriers of the same disease.
If both members of a couple carry the same genetic disease, they have several options. One is to undergo in-vitro fertilization using pre-implantation genetic diagnosis. This technology allows embryos to be tested for the affected gene before being implanted. Other options include using a donor egg or sperm, or pursuing adoption.
At-risk couples who choose to conceive without taking such measures might opt for prenatal testing. If they find that the fetus is affected with the disease, they could use that knowledge to prepare for their baby’s medical needs or, in some cases, they might decide to terminate the pregnancy.
Screening with JScreen costs $99 per person for those who have medical insurance, regardless of what their insurance covers. The subsidized price is made possible by grants and private funding, most notably from the Atlanta-based Marcus Foundation, established by Home Depot co-founder Bernie Marcus.
JScreen grew out of a regional campaign started by an Atlanta couple who had a child with a genetic condition called Mucolipidosis Type IV, or ML4. Neither was screened for the disease, even though a test for ML4 was available at the time. The Marcus Foundation, which funded the Atlanta campaign, approached Emory about creating a national campaign.
“We wanted to give access to everybody, regardless of where they live,” Grinzaid said. “We decided that the easiest way for us to reach the most people was to allow them to get their education online and get screened from home. We knew we could do genetic screening from saliva and do it accurately.”
Launched in September 2013, JScreen has received more than 4,000 requests for kits from people in 43 states in the U.S. Many of them, Grinzaid said, might not otherwise have access to such screening.
There are other initiatives focused on encouraging Jews to seek screening as well. While many people wish to have as much knowledge about their genetic makeup as possible, others may not want this knowledge or might be concerned about possible stigma associated with being a carrier of a genetic disease. Dor Yeshorim, a New York-based program, whose hotline is (718) 384-6060, was created to prevent Jewish genetic diseases while still honoring the need for privacy among members of the Orthodox community.
Participants are tested for 10 disorders common in Ashkenazi Jews, but do not learn their results. Instead, they receive an identification number. Couples considering a relationship submit their identification numbers to the agency, which checks to make sure they aren’t carriers of the same genetic disease. The couple is then notified if they are “compatible” or “not compatible.”
Locally, Rachel Shapira is a genetic counselor with GeneTestNow, a Los Angeles-based initiative designed to educate the Jewish community about the importance of genetic screening. GeneTestNow.com sometimes co-sponsors local screening events, including one on Feb. 22 at Beth Jacob Congregation in Beverly Hills.
Shapira said JScreen’s approach complements existing options for screening, which, in addition to community screenings, include asking a doctor to order the test or visiting a genetic counselor. For those with specific concerns about their family history, she recommends seeing a genetic counselor.
Shapira noted that community screenings are usually the least expensive option, but may not test for as many diseases as the JScreen panel. The Feb. 22 event, for example, will screen for 25 diseases. She also applauds the educational and counseling components of JScreen’s approach.
For Grinzaid, who is Jewish and has worked in the field of genetics at Emory for 28 years, JScreen provides a meaningful way to meld the two.
As a genetic counselor, she said, “I spent a lot of time sitting down with families and giving them bad news. I got very interested in prevention and thinking that if we have diseases that we can’t cure but we can help people know about ahead of time, that would be a place in the Jewish community where I could make a difference. … This program is really close to my heart.”
A Jewish community genetic screening event co-sponsored by GeneTestNow.com will be held on Feb. 22 from 9:30 a.m. to 2 p.m. at Beth Jacob Congregation, 9030 W. Olympic Blvd., Beverly Hills. To register, visit genetestnow.com/events.