Karen Grinzaid is Assistant Professor of Human Genetics and Executive Director of JScreen, a national online genetic disease screening program based out of Emory University School of Medicine. She has extensive experience in genetic counseling and testing, clinical care and clinical research. Karen is proud of JScreen’s success in helping couples across the U.S. have healthy babies and in giving people the information they need to help prevent the devastating effects of hereditary cancer.
FWM: Tell us about your background and how it led you to JScreen – your role and why you are so passionate about what you do?
I trained as a genetic counselor and spent many years working in genetics clinics. One of the hardest parts of my job was giving parents bad news. “Your child has a life-threatening condition and there is no effective treatment at this time.” When I knew that the parents could have had genetic testing before they started their family and used that information to help plan for healthy children, it was particularly heartbreaking. Our goal at JScreen is to help parents access information about their genetic risks so they can be proactive and help ensure the health of their future children. It warms my heart to know that our work prevents suffering and helps families avoid tragedies. We recently started offering a new genetic test for hereditary cancer. In the same way, we are preventing disease and suffering by giving people information they can act on to help prevent cancer.
FWM: What makes the Emory Department of Human Genetics the best partner?
The JScreen program is based in Emory University School of Medicine’s Department of Human Genetics. With the backing and expertise of this world class genetics department, we are providing state-of-the-art testing and genetic counseling services across the U.S.
FWM: How did JScreen begin?
JScreen launched in 2013 to address the need for affordable, accessible reproductive screening for the high-risk Jewish community. Since then, testing has expanded to include over 200 disease genes common in other groups as well. In fact, JScreen’s ReproGEN test is intended for anyone planning to have their first child or add to their family, regardless of their background. In January of 2021, JScreen added a new testing option called CancerGEN which includes 60 cancer susceptibility genes. This test is intended for anyone over the age of 21 that wants to know their hereditary risk for cancer so they can be proactive about their health.
FWM: Tell us about ReproGEN and the process for testing.
The testing process for ReproGEN and CancerGEN is easy. People register for one or both test kits at JScreen.org. Their information is reviewed by our genetic counselors and a signed test order is obtained from their healthcare provider. A kit is shipped to their home, and they collect a saliva sample and mail it to the lab. About 3 weeks later, a genetic counselor contacts them to set up a telehealth appointment to discuss the results. Reports are shared with the individual and their healthcare provider.
FWM: What kind of genetic diseases does JScreen screen for?
The ReproGEN test includes over 200 diseases that could affect a couple’s future children. For most of these diseases, both parents have to carry a mutation in the same disease gene for their children to be at risk. Examples are cystic fibrosis, Tay-Sach disease and sickle cell disease. The CancerGEN test includes over 60 cancer susceptibility genes associated with hereditary risk for cancer. Examples are BRCA1 and BRCA2 – mutations in these two genes are associated with increased risks for breast, ovarian, prostate and pancreatic cancer.
Here are a few testimonials:
Anna tested with JScreen while she was in college. Her results showed that she had a blood clotting disorder called Factor XI deficiency, a condition that is common in Ashkenazi Jews. Years later when she became pregnant, this information helped her OBGYN create a birthing plan that involved a hematologist. Thankfully, delivery of her first child went smoothly. Two weeks after she delivered the baby, she started bleeding heavily and was rushed to the hospital. Anna said, “If I didn’t know that I had Factor XI deficiency, who knows what would have happened. I could have hemorrhaged and no one would have known why or how to treat it. JScreen’s test saved my life!”
Samantha was getting ready to have IVF for fertility reasons. She came through JScreen and learned that she was a carrier for Duchenne muscular dystrophy, a severely debilitating condition that is passed on to male offspring. She chose to incorporate preimplantation genetic testing (PGT) as part of her planned IVF cycle to ensure that her baby did not have this devastating disease.
Alex tested through JScreen when he was volunteering for the program, and learned that he was a Tay-Sachs carrier. When he met his future wife Melissa, they were shocked to learn that she was also a carrier. They chose to use reproductive technology, in vitro fertilization (IVF) with pre-implantation genetic testing (PGT), to avoid passing on this devastating disease. They welcomed their first baby to the family in May 2021. They said, “We are so grateful that we had access to testing and the opportunity to have a healthy baby.”
FWM: Why is it that only women are screened for Fragile X Syndrome?
Fragile X syndrome is inherited differently than most of the other diseases on JScreen’s panels. Women who are carriers have a 50% chance to have an affected child, and boys symptoms are usually more severe than girls. Males can be carriers for Fragile X, but it is only when the woman passes on the genetic change that a child is at risk to be affected.
FWM: Tell us about CancerGEN.
The CancerGEN test includes over 60 cancer susceptibility genes associated with hereditary risk for cancer.
FWM: Does your program screen for BRCA and other cancer-related genes?
Yes, JScreen’s CancerGEN test includes the BRCA1 and BRCA2 genes, and 61 other cancer-related genes.
FWM: Does health insurance cover genetic testing?
Many health insurance plans cover genetic testing, but coverage often depends on personal or family history of genetic disease. JScreen’s goal is to help ensure that everyone has access to testing, regardless of coverage. Everyone who registers for a JScreen test is asked to pay a very reasonable program fee which covers the testing and genetic counseling. The lab may bill insurance for the actual cost of testing, but JScreen participants never pay more than the program fee, regardless of whether their insurance pays. Financial assistance is available for anyone with financial need.
FWM: Tell us about JGift Cards.
If someone wants to cover the cost of testing for a loved one, they can purchase a JGift card on our website. The card will have a code that their loved one can use to discount their test at checkout.
FWM: What have you learned as a result of your work with JScreen? Can you share any specific client testimonials on their experience – one or two examples of success or how JScreen impacted their life.
Through JScreen, I have learned that genetic testing really can save lives. Everyday we hear about couples who had healthy babies because we gave them the information and resources they needed to help them avoid a tragedy. Or about someone who avoided cancer by doing our cancer test and taking action to help prevent cancer. There are so many success stories!
FWM: What do you hope more awareness about JScreen will accomplish
Awareness is really key. The more we can get the word out about the importance of screening, the more lives we can save!
FWM: What is next for JScreen?
We want to educate and screen as many people as possible! We will continue to expand our testing panels over time so we can help more people have healthy futures.
FWM: Where can people learn more about you?
https://www.facebook.com/myJScreen/
https://www.instagram.com/getjscreened/
