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.

Jennifer’s power


How do you deal with a future that you know for sure is going to get worse? That was the question on my mind when I met Jennifer, a mother of two who has a rare neuromuscular disease called hereditary inclusion body myopathy (HIBM). I was introduced to Jennifer (she asked me not to use her last name) by my friend Sharon Glaser, co-founder of Genetestnow.com, an awareness and educational initiative that TRIBE Media Corp., parent company of the Jewish Journal, has helped create to promote the importance of screening for genetic diseases.

Jennifer’s condition, also known as GNE myopathy, attacks muscle function and worsens over time. She was already seated when I met her at Pat’s for lunch, so I couldn’t see that she has difficulty walking. All I saw was an elegant woman in her late-30s with a delicate, soulful face and an easy smile.

Do you know that feeling when you meet someone and immediately click? Jennifer and I got silly within minutes. It was as if she were my long-lost buddy from high school. After about 90 minutes of banter and laughter, interrupted by occasional insights about life, I realized I had done a terrible job of discussing how she handles her disease. I’m not sure it even came up.

Her condition became noticeable only when we got up to leave and I noticed a slight awkwardness in her walk. Before we said goodbye, she told me how excited she was about attending a medical conference on HIBM the following week in Berlin.

On one of her blog posts from the conference (she blogs on livingwithhibm.com), she wrote about what she calls “meant to be moments”:

“I often, in the context of this disease, have a lot of ‘meant to be moments.’ I imagine we all do, as one of our many coping tools. For example, the fact that I had been working out since I was 14 years old was ‘meant to be,’ since it put my body in the best possible shape before beginning its premature decline (sorry, just keeping it real).”

She brought up a moment at the conference that felt almost too real. She had noticed a Japanese woman named Yuriko in an electric wheelchair whose physical “decline” was much further along than Jennifer’s. 

“Throughout the day,” Jennifer wrote, “I couldn’t help but be distracted. I watched how [Yuriko’s] husband removed her scarf for her when she got warm. I observed how he brought a glass of water to her lips when she was thirsty. … I looked at her and wondered how she looked so beautiful, so neatly dressed with her hair perfectly tied up in a pony tail. I wondered how much time went into her simple act of getting dressed.”

The hardest moment came during dinner: “I went to sit at Yuriko’s table for a bit to chat as best we could given the language barrier. We enjoyed each other. We shared our experiences as mothers, as wives and as patients. But when the food arrived, I chose to go back to my seat, because I wasn’t ready to watch her husband cut up her veal schnitzel for her and then feed it to her. I may be strong. But not that strong.”

When I met up with Jennifer again after her return from Berlin, I was determined to discuss her condition. By now, I had read all her blog posts and I was armed with a notepad and plenty of questions. 

This time, we met in her office in Westwood. Jennifer is a psychiatrist, so I had the benefit of a comfortable couch. We spent the first 10 minutes discussing something I had just heard on a jazz station on the way to her office. A musician was talking about how he had learned so much from the great Miles Davis — but that Davis’ lessons were always “indirect.” He never spelled things out. He gave you clues, asked questions, all so that you would learn the lessons for yourself.

Jennifer seemed to channel her inner Miles Davis during the rest of our meeting. She asked questions, and I tried to give answers. Before I knew it, she had turned the tables on me: Instead of talking about her, we ended up talking about my own life and my own problems, and I confess, it felt pretty good. But I never did get to ask my original question: How do you deal with a future that you know for sure is going to get worse?

So, as I drove away and reflected on what had happened, it dawned on me that maybe I had to figure out the answer for myself. What I came away with is that no matter how difficult Jennifer’s condition gets, what helps her cope is the knowledge that she still has the power to help other people.

I know, because I’m one of the people she helped.


David Suissa is president of TRIBE Media Corp./Jewish Journal and can be reached at davids@jewishjournal.com.

Jewish genetic testing offered


Tammy Rubin wasn’t thrilled at the prospect of getting blood drawn by a phlebotomist. At least there was apple juice — and the prospect of life-changing knowledge — afterward.

The UCLA junior was sitting at a table outside of the campus’ Kerckhoff Hall on April 9, where the Los Angeles Jewish Genetic Disease Prevention Project and Progenity lab offered genetic screenings for both Ashkenazic and Sephardic Jews.

“It was so easy, so fun — well, less fun about the shot stuff — but all the phlebotomists were there cheering you on,” Rubin said. 

The event was in coordination with Hillel at UCLA and GeneTestNow (genetestnow.com), an organization encouraging Jews to undergo genetic screening before starting a family. The latter is an initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles and supported in part by TRIBE Media Corp., parent company of the Jewish Journal. 

The same event was held a day earlier at Hillel at USC. Together, the two-day project attracted nearly 100 people, according to one of Progenity’s project leaders. Participants will receive their test results — offered for $25 to those with insurance — after a few weeks.

Through tests like these, people can learn which genetic diseases they carry, even though they do not show its traits or symptoms. Because most Jewish genetic diseases are recessive, both parents need to be a carrier for a disease to impact the health of a child.

The discomfort of getting blood drawn, Rubin said, was more than worth it when considering the risks of not knowing whether she has the recessive genes carried by many Jews. 

For Ashkenazim with roots in Central and Eastern Europe, that could mean one of 19 genetic diseases. Not just high-profile ones like Tay-Sachs disease, but also lesser-known illnesses like nemaline myopathy, a muscle disorder, and Canavan disease, a progressive, fatal neurological disease.

Debby Hirshman, a consultant who traveled from New York to help organize the events, recalled meeting a Jewish couple in Atlanta who were tragically impacted by not having a genetic test done that was comprehensive enough. 

The couple’s first child was a healthy boy, but their second child, a daughter, reached few, if any, of her milestones by the time she was 4. A blood test revealed that she has mucolipidosis type IV (ML4), a neurological disorder, which, in this case, Hirshman said, will cause the girl to go blind at the age of 10 and prevent her from ever talking. Neither spouse knew they were carriers of the disease because one was tested for only four diseases and the other checked just eight. 

Awareness about some genetic disorders within the Ashkenazic community is widespread, but Hirshman said that when she spoke with Los Angeles rabbis before arranging the local events, each one indicated a willingness to publicize the testing as long as it included common genetic diseases within the Persian, Mizrahi and Sephardic Jewish communities.

Traditionally, Hirshman said, the barrier to getting people in the door for these tests is not hesitation at getting blood drawn or fear of hearing potentially negative news — it has been the cost. To address that, participants with insurance only had to pay $25 — a fraction of the normal cost of such comprehensive genetic testing procedures, which can easily run more than $1,000.

That was possible because the lab Progenity agreed to absorb the risk of insurance companies not paying the full bill, according to two local women who spearheaded these events, Heidi Bendetson and Stacy Sharf.

The testing process at both USC and UCLA was so quick, most people could be in and out in less than 30 minutes — unless, of course, they wanted to stick around to enjoy additional cookies and juice, and chat with the Progenity staff, who were more than happy to schmooze between consultations.

After signing in and registering, every participant was given the opportunity to interact with a Progenity genetic counselor, who explained the basics of recessive genes and why participants shouldn’t be disheartened if they are carriers. Modern techniques such as in vitro fertilization can help reduce the risk of two carriers having a child with a particular disease.

Following the counseling session, the unpleasant part — drawing blood — generally took less than a minute.

Shawn Feldman, who spoke with the Journal shortly before giving blood, said that any discomfort he has from getting tested is far outweighed by the knowledge that he will soon have.

“It’s not really fun for me,” said Feldman, a first-year pharmacy graduate student. “But I see it as a very, very small and transient price to pay for such a great benefit to so many people.”

The next Jewish genetic testing event in Los Angeles will be held at Wilshire Boulevard Temple on May 13, from 5 p.m. to 9 p.m. For more information, visit this article at jewishjournal.com.

Need for genetic testing raised by new initiative GeneTestNow


Significant advances in science enable us to no longer question what’s in our genes. This is especially important for Jews, who are far more likely to be carriers of certain genetic diseases than the general population. 

Education and awareness about genetic screening have been spreading throughout the nation and the December 2012 launch of the Web site “>victorcenters.org.

How much does it cost? Insurance companies often dictate the price tag for genetic screening. Some won’t offer a covered benefit until a woman is pregnant, since there is no liability until this point and testing earlier is considered a waste of resources. Costs can range from as little as $99 to thousands. 

Is a salvia test a good genetic screening? To eliminate all risks of being a carrier of Tay-Sachs disease, you should request to screen for DNA and enzymes, which can be done only with a blood test. Otherwise the test will screen only for DNA mutations, which misses a small percentage of carriers. 

Should I get rescreened before having another child? Hold on to your test results. It isn’t a matter of rescreening, but of updating your screening as technology advances and more information becomes available. In 2005, the Jewish panel of diseases covered only nine genetic diseases. 

Are online genetic screening tests sufficient? Direct-to-consumer testing might not provide counseling services, which are strongly recommended. To ensure the quality of testing, laboratories should be properly certified. The Center for Medicare and Medicaid Services regulates lab testing through the Clinical Laboratory Improvement Amendments (CLIA). Check to make sure the screener is CLIA approved. 

Consider purchasing life insurance first. Test results from genetic screening could make it difficult to buy life insurance, disability insurance or long-term-care insurance. Although, Congress passed the Genetic Information Nondiscrimination Act of 2008 to protect Americans against discrimination based on their genetic makeup from health insurers or employers, not all types of insurance are included.