Shari Ungerleider is a firm believer that if a person is going to undergo genetic testing, they should also receive genetic counseling. She says the information gathered from testing is too complicated for a layman to break down, and if read incorrectly can result in a misdiagnosis.
Ungerleider is the project coordinator of Jewish Genetic Disease Consortium (JGDC) and her mission is to educate the medical community, Jewish community and Jewish clergy about genetic diseases.
Also working to get the word out are Nancy Lurie, chief operating officer of the Neuromuscular Disease Foundation (NDF), and Karen Arnovitz Grinzaid, executive director of JScreen. They teamed up with Ungerleider in Los Angeles in February to raise awareness about advancements in genetic testing and options for carriers of recessive diseases.
“There’s no way that an OB-GYN or a pediatrician or any other doctor can keep up with genetic science,” Ungerleider said. “Our philosophy is, refer them to a genetic counselor. If you have a patient that has a problem with their heart, you’re going to send them to a cardiologist. So every patient [that receives] genetic testing, [you should] send them to a genetic counselor.”
According to the Los Angeles nonprofit GeneTestNow, which provides information on Jewish genetic diseases, a number of these diseases are commonly found in Jewish populations. In general, all ethnic groups have certain conditions that are passed down and if two carriers have the same condition, there is a 1 in 4 chance their child can be affected.
While Tay Sachs and Gaucher disease remain the most widely known recessive genetic diseases among Jews, Lurie said genetic testing awareness has been expanded to interfaith couples, non-Jews and Persian and Sephardic Jews because they can be carriers of various types of neuromuscular diseases. That’s why, she said, it’s important for everyone, not just Ashkenazi Jews, to get tested.
“This generation is much more open to talking about genetic testing,” Lurie said. “They can learn and pass it on to the people they know best [in their community]. NDF is [educating] through the young adults. The opportunity to educate the clergy is something we really haven’t been able to do [until now].”
Among their many visits around Los Angeles, the trio made presentations to clergy at Sinai Temple and at Wilshire Boulevard Temple.
“There’s no way that an OB-GYN or a pediatrician or any other doctor can keep up with genetic science. Our philosophy is, refer them to a genetic counselor.” — Shari Ungerleider
Ungerleider is passionate about the cause because her son Evan died from Tay Sachs. Ungerleider was tested for Tay Sachs but got a false negative after her doctor misread her test results. Now she fights so that every couple planning for a family can gain access to their genetic information before pregnancy so they can know their options.
“I would never knowingly put a child through what Evan [went through],” Ungerleider said. “The question I sometimes get from people is, ‘Well, do you wish you never had Evan?’ and the answer is, ‘No, I don’t wish I didn’t have him.’ Do I wish I was able to know and spare him with what he went through? Absolutely. I would have changed that in a second. It’s a parent’s responsibility to protect them and take care of them, and that starts the moment after conception. So anything you can do to spare your child’s pain if you know, my philosophy is do it. … Genetic testing isn’t telling you what to do, it’s providing you with options.”
Grinzaid, who was a genetic counselor before she became JScreen’s executive director, told the Journal many couples are nervous about being screened.
“Having to sit with a family and give them bad news, that’s hard. I had to do that for many years,” Grinzaid said. “Sometimes I would sit down with a family and I would know that they could have had genetic testing and known about the risk ahead of time but didn’t have access to the testing. If we are able to test people and give them a heads-up ahead of time, that’s a gift.”
JScreen tests for 226 diseases. Through saliva at home spit tests, Jewish and non-Jewish couples can get tested for $149, regardless of insurance. Then, couples can meet privately with a genetic counselor to hear their options.
“We are all about prevention so they can plan ahead,” Grinzaid said. “We don’t screen minors, but [you can get tested] whenever a couple decides to do this, as long as it is before pregnancy. If you are a high-risk couple, there are options. If you are already pregnant, there are options, but there are fewer options.”
Grinzaid said that genetic advancements have grown immensely over the past eight years. However, she noted there is a misconception that if a couple is a carrier for the same disease, they have to break up because they can’t have a healthy baby. Now, Grinzaid says, there are safe options that allow the couple to stay together and raise a family. Couples can choose to undergo in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), they can use an egg or sperm from a screened noncarrier donor or they can choose to adopt children.
The main priority is to get tested early and not fear the results. “Even if they’re completely healthy, everybody has a risk of being a carrier for genetic diseases. About 80% of people will be tested as a carrier because there are so many genes on the panel, so [don’t] be nervous about being a carrier,” Grinzaid said, noting the only problem is when both couples are a carrier for the same disease. “One thing that is reassuring is only about 3% of couples in these programs are at risk. I like to reassure them that they are probably going to hear good news.”