Report from Atlanta: Genetic testing can help with family planning

 

It’s not just a screening kit – it comes with counseling and resources.

JScreen is a take-home kit for genetic testing, to test for 226 genetic diseases, which include diseases found in Jews of Ashkenazi, Mizrahi and Sephardic descent as well as diseases common in the general population. The test is designed for couples who are planning for a baby.

JScreen is also the name of the organization behind the kit. I visited with JScreen in Atlanta, my hometown, over winter break from Marquette University, to learn all about it for the Chronicle.

Karen Arnovitz Grinzaid, executive director and co-founder of JScreen, offers a home test kit for family planning.

The nonprofit started in 2013 and is in association with Emory University School of Medicine’s department of human genetics in Atlanta.

“We launched the program right before Rosh Hashanah,” said the executive director and co-founder of JScreen, Karen Arnovitz Grinzaid.

The test is for family-planning purposes, as it reveals whether one or both partners are a carrier of a genetic disease. It helps establish the statistical chance of having a healthy baby. Anyone over 18 can be tested, but the majority of participants are 25 to 35 years old.

“We try as hard as we can to screen a couple before they get pregnant, then we have more options available to that couple to plan ahead for their children,” said Grinzaid.

To receive the kit, follow the instructions on the JScreen website. More than 90 percent of people who have been tested have at least one Jewish grandparent, although the test is applicable to everyone, Grinzaid said.

The program fee, which covers the kit and the genetic counseling, is $149 with insurance or $349 without insurance. Financial assistance is available.

The kit is sent to the participant’s home; they send a saliva sample to a lab that keeps it for a set period of time.

This is where Emory University steps in. “We have the strengths of the university for communications, for legal, for an institutional review board if we are doing any kind of studies, and also it gives us credibility,” Grinzaid said.

A genetic counselor employed by Emory University explains the results to the participants by phone or over a secure video conference. The counselors aim to clarify any misunderstandings and answer questions. Couples with increased risk of having a child with a genetic disease are directed to resources, such as information about in vitro fertilization, adoption and other options, and are referred to specialists, such as geneticists and fertility doctors, Grinzaid said.

Even when a couple finds that they are not a carrier of any disease, “If you have that information for your doctor, it’s helpful just for your overall medical management,” Grinzaid said.

The JScreen test does not currently cover the BRCA gene, which is more prevalent among Jews of Ashkenazi descent.

“The Jewish community has a 10 times higher risk in having changes in BRCA genes that increase a person’s risk for cancer,” Grinzaid said. A mutation in the BRCA gene means that a woman has a 50 to 80 percent risk of developing breast cancer in her lifetime, Grinzaid said.

JScreen is beginning a BRCA testing program for the Jewish community in Atlanta. “If that program goes well, we are going to launch a BRCA test nationally, where people can access from home,” Grinzaid said.

“I think that prevention — knowledge — is power,” Grinzaid said.