Remote Genetic Screening Demand Rises

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Dr. Cheryl Yondorf helps patients screen for genetic diseases. | Courtesy of Einstein Medical Center

Physician Cheryl Yondorf can tell her patients not to worry about coronavirus exposure when they get screened for genetic diseases.

“We’ve already had remote genetic testing in place at Einstein for two years now,” said Yondorf, who works in the Department of Obstetrics and Gynecology at Einstein Medical Center Philadelphia. “All the kinks have already been worked out by now, which is nice.”

Barbara Lukin, a licensed certified genetic counselor at Einstein, said testing kits can screen for reproductive genetic diseases using samples provided at home.


“These kits are either what they call saliva kits or they are blood kits,” she explained.
For example, the genes responsible for Tay-Sachs disease can be detected using either DNA technology or enzyme analysis.

The former requires a patient to deposit a saliva sample in a container and send it to a health care provider. The latter requires a blood sample that can be drawn during a home visit.

Patients can complete both options without leaving the house.

Telehealth is a relatively new trend for many health care providers and patients, but genetic screening went remote years before the pandemic.

JScreen, a national nonprofit genetic education and screening program dedicated to preventing Jewish genetic diseases, was created using a remote testing model.

“JScreen was built for this pandemic,” said Hillary Kener Regelman, director of national outreach.

It takes approximately eight minutes to register for a testing kit on JScreen’s website. Once users return the saliva sample and family history, genetic counselors provide results in two to three weeks via a secure call.

Although they provide a remote, contactless service, Regelman said JScreen staffers were concerned genetic testing would be the last thing on people’s minds during the pandemic.
They are pleased to see an increased demand since March, which Regelman speculated is partially due to online marketing efforts.

“We’ve just been putting out a lot of educational material in the form of Facebook Lives and Instagram Lives, really collaborating with organizations to bring information to their constituents,” she said.

The increased interest is also driven by women in the early stages of pregnancy who do not feel safe going to see a doctor in person now.

Although the tests are mainly aimed at people who are planning to start a family, JScreen can rush results for those who are already pregnant and prefer to test from home.

Regelman said JScreen has also seen an uptick in interest from volunteers during the past few months, particularly college students who had to put summer plans on hold.

The volunteers help with video editing, graphic design, social media and conducting local outreach.

Mark Mordechai Lis, an undergraduate at the University of Pennsylvania double majoring in biology and Near Eastern languages and civilizations, started volunteering with JScreen in the spring of 2019.

He partnered with Hillel and Moishe House Philadelphia to organize an event to raise awareness about genetic screening and provide testing kits to his peers.

“I’d encourage all young people, especially young Jews, to just get the test done long before they’re considering children or marriage. If we could normalize these tests to freshman in college, we could prevent an entire generation of young Jews from being affected by diseases we can see coming,” he said.

Yondorf said the ideal time to get tested is before pregnancy, since parents can find out their carrier status before it impacts their children.

“Going for this screening gives you the power to know where you stand,” she said.

JScreen’s existing test kits are designed to screen for reproductive diseases like Tay-Sachs, but in June the organization finished a year-long pilot program to test for BRCA breast cancer mutation genes and other cancers.

“The community was begging for us to do it, since it’s so common for Ashkenazi Jews,” she said.

JScreen plans to launch the new screening kit in September. The kit will include an in-depth family history survey and a saliva test, similar to the reproductive diseases kit.
Regelman said the need for genetic screening will stay consistent during the pandemic.
“People think life has been put on hold, but people are still getting married and having babies,” she said. “If someone is getting married or thinking about starting a family now, JScreen should be on their checklist.”

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