Testing for genetic diseases

Looking for a novel engagement or bridal shower gift? “Forget a blender or another place setting. Give a JGift and help them ensure the best future for their family,” advises the website JScreen.org.

For $99 you can “give the gift of screening,” said Hillary Kener, JScreen’s outreach coordinator. Ms. Kener was referring to the online genetic screening program that is coordinated through the department of human genetics at Atlanta’s Emory University. With this unique program it is possible to be screened for up to 80 genetic mutations. Along with screening, the site provides education and access to genetic counseling related to the screening tests. And all of this can take place in the comfort of your own home or dormitory room.

JScreen’s Hillary Kener, left, and Karen Grinzaid stress the importance of screening for genetic mutations.

Josh and Shoshana, a married couple from West Orange, went through the JScreen testing process together. Shoshana has children from her first marriage but the couple is planning to add to their family. They felt that they had to find out if their future children would be at risk for any known Jewish genetic diseases. If they are both carriers of the same recessive mutation, they would be at risk for having a child with the disorder. (For instance, two carriers of cystic fibrosis have a 25 percent chance of conceiving a child with the disease.)

“The JScreen website looks very professional, very modern,” Josh said. “They take what they’re doing seriously. Another place we went to said we could make a three-hour appointment in a month. It seemed like a lot of headaches and was more expensive.”

Josh said that he and Shoshana went to the website and signed up, providing JScreen with their insurance information. (Most plans cover much of the cost, with only a $99 co-pay.) The process involves watching a short video. “Both of us had to watch the video and take the quiz,” he said. “We did it separately, so you know you’re getting individual attention.” After you sign up, you receive a kit in the mail that contains a tube and a mailer. You deposit saliva into the tube, seal it in the mailer, and send it back.

Josh and Shoshana did the broad panel of 80 tests; his results came back showing no mutations, but hers showed that she was a carrier of the mutation for Gaucher’s disease. When they received the report, “JScreen did genetic counseling on the phone” to explain the implications of Shoshana’s positive test, Josh said. Because he does not have the recessive Gaucher gene, they are not a match, and they do not have to worry about future children being at risk for Gaucher, or for that matter, for any of the other disorders in the panel.

“It puts you a little more at ease,” Josh said. “You should do this at college age. When you meet someone that you want to make a life with, you should know [your carrier status] right off the bat.”

Shira (a pseudonym), a physician from Teaneck and mother of three, felt strongly that her children should know their carrier status. “Our rabbi’s daughter had a child with Tay Sachs,” she said. “It’s pretty much unheard of, pretty shocking.

“If you’re not a carrier, then nobody else has to get tested,” she continued. “It covers you and the next generation. Having knowledge is important. Once you know things you can make educated decisions.

“I would offer it to college age kids before they’re thinking about getting married,” she said. “I was tested in pregnancy. They did it for five common genes, and I was negative.”

Shira reported that her husband’s parents were Holocaust survivors. Because his uncles, aunts, and cousins were murdered in the Shoah, “there’s so much missing information. How would you know about anyone who had any disease? The nieces and nephews didn’t grow up. We’re left with a blank.

“It’s not even a blood test,” she continued. “You spit into a tube and that’s it. You do it in your house, all for $99, and it tests for more than 80 common mutations. It gives you a lot of information.” The process is very confidential, she added. “You sign up online, watch a five-minute video, and the kit comes right to your door in a Fedex package.”

Her three children, in their late teens and early 20s, were tested through JScreen, and it turned out that one of them was positive for one mutation. “I’m not one who likes any surprises,” she said. “I’d rather know. Even if you test positive, the person you marry could be tested and test negative.” And with knowledge also comes the power to intervene medically for some conditions. For instance, she said, “with maple syrup urine disease, if you find out right away, you can do something early on that helps the babies not get the symptomology.”

Ms. Kener said that JScreen was launched in the fall of 2013. Randy and Caroline Gold, a prominent Florida couple, had been screened by their physician, but still they had a child with mucolipidosis Type IV. JScreen.org’s website recounts how they learned “they were only screened for eight of a possible 19 known diseases.

“They also learned that there is no standard testing panel,” the narrative continues. “In response, the Golds founded Jewish Gene Screen to promote awareness among rabbis, doctors and young couples about the need for Jewish Genetic Disease screening.”

Karen Arnovitz Grinzaid, a genetic counselor who is JScreen’s program director, reported that the Golds’ daughter now is 5 years old, and, thanks to a new reproductive technology, preimplantation genetic diagnosis, the Golds have had two other healthy children.

“Prior to screening there’s a mandatory educational video that a person has to watch,” Ms. Grinzaid said. “There is an informed consent form that describes the limitations of the testing. You choose between panels: the Ashkenazi panel [of 19 genes] or an expanded panel of 80 diseases, including the Jewish diseases.”

As the technology develops it has become possible to get more in-depth information about inherited mutations. “There’s a new sequencing option,” Ms. Grinzaid said, referring to tests that report the exact DNA code of each gene. “Instead of the standard genotyping, in case people want more information, they can pay $299 for the sequencing option. It gives sequences of all of the genes except for four.” This can be helpful, as different variants of some genes may lead to more or less severe forms of a disorder.

Ms. Grinzaid said that samples are sent to a lab in California, which reports the results to the Emory University Department of Genetics. “If someone has a positive result, they get a message that they have to have a phone call [genetic counseling session], or a HIPAA compliant video counseling session with a genetic counselor,” she said. “The [counselor] would recommend screening of the partner.

“If they get a negative result, since we already sent them a knowledge-based quiz that they answered correctly, they don’t need genetic counseling.”

In addition, she said, “If we get into a situation where we have a carrier couple and feel they would benefit from face to face counseling, we have a network of genetic counselors and we would refer them to someone in their area.”

Because the screening program is online, it is accessible from all 50 states, Ms. Kener said. “Through word of mouth we’ve received kit orders from everywhere.”

Ms. Grinzaid added, “Even if a person has only one Jewish grandparent, screening is still important for them. They are at an increased risk.” She added, “Coming out of the Holocaust, some of us don’t know our full ancestry. There are a lot of people who have Jewish ancestry who don’t know they have those roots.”

On the other hand, people whose backgrounds are not only Ashkenazic should talk to a genetic counselor to learn if there are other tests they should take along with this one.

“The truth is, everyone is a carrier for genetic alterations regardless of their ethnic background,” the JScreen website warns. It continued: “individuals with no Jewish ancestry, or both Jewish and non-Jewish ancestry, are encouraged to pursue the 80+-disease Expanded Panel… It is a common misconception that individuals without Jewish ancestry are not at risk to be carriers for the 19 genetic diseases found most commonly in the Ashkenazi Jewish population.”

The expanded panel of genes includes Sephardic diseases. “Sephardic communities come from different parts of the world,” Ms. Grinzaid said. “They are not as homogeneous as Ashkenazi Jews are. We recommend that Sephardic Jews choose the expanded panel.” For instance, Sephardim from different parts of the Mediterranean basin may be at higher risk for thalassemia, Fanconi anemia, and familial Mediterranean fever.

Karen Grinzaid has two college-age children. Their background is Ashkenazi on all four sides, and she is encouraging them to be screened. Hillary Kener said that she is of the age where her friends are starting to get married. Because she has four Ashkenazi grandparents, she decided to get screened with the expanded panel, and is awaiting the results.

She said that a recent survey revealed that only 24 percent of Ashkenazi Jews of reproductive age are aware of the risks. Ms. Grinzaid reflected that many people have not heard of these diseases; in the case of Tay Sachs, that is successful screening in the 1970s reduced or eliminated it from the Jewish community.

“Our goal is to have people tested preconception,” she said. “If we tell them before they have a family, they have many options,” Ms. Grinzaid said. “We are using social media publicity to create awareness for people with even one Jewish grandparent. We’re doing things with interfaith families.”

Ms. Kener recommends giving “a present for the future” to young couples and to brides- and grooms-to-be. For $99 you can give a Genotyping gift certificate and $299 buys Sequencing gift certificate. The gift covers the co-pay for those tests.

More information on JScreen is at www.JScreen.org. Information on Jewish genetic diseases is at www.jewishgeneticdiseases.org.