Resolve To Have Your Genetic Screening In 2020


With the new year approaching, people are in planning mode, both short-term and long-term.  How are they going to ring in the New Year? What do they hope for in the year to come? For young couples, once the celebrations end and the year begins anew, this planning and hoping might include marriage in 2020, and even a future family. Simple steps can help ensure their children-to-come are healthy—and have many New Years to celebrate themselves. Through genetic screening, these young couples can receive invaluable information to help in their family planning.

Why is genetic screening important?  You may be surprised to learn that 3 out of 4 people test positive as a carrier for a recessive genetic disease that could affect their future children. When both parents are carriers for the same disease, each of their children is at 25% risk. Carriers of genetic diseases are usually healthy and have no symptoms, so the only way to know you’re a carrier is to get screened or have an affected child.   For couples that find out they are at risk, there are many options to help them have a healthy baby, including in vitro fertilization (IVF) with preimplantation genetic testing, sperm/egg donation from a non-carrier, prenatal testing, adoption and others.

Thanks to new technology, individuals and couples can get screened for genetic diseases through an at-home “spit test” that gives them information about potential genetic risks to their future children. A not-for profit at-home education and genetic carrier screening program known as JScreen ( offers this test. JScreen tests for more than 200 diseases common in specific ethnic groups and in the general population. Genetic counselors provide results by phone or secure video-conferencing to make sure people understand their results.

Families that have been impacted by genetic diseases understand the importance of knowing about genetic risks before pregnancy. Shari Ungerleider’s son, Evan, tragically died of Tay-Sachs disease. She says, “If a couple knows their carrier status prior to pregnancy, they have ample time to seek genetic counseling, gain information about the disease(s) that they carry, and make family planning decisions that will best suit them.

Within months of his seemingly healthy birth in 1994, Shari and her husband Jeff became concerned as they realized that Evan was not developing at the same pace as other children his age. By the time he was 10 months old, it was clear there was a significant problem. Evan’s condition quickly progressed, and he was soon unable to move on his own, suffered multiple seizures daily, and had significant respiratory difficulties. He eventually became blind and deaf. They had a feeding tube surgically inserted so that Evan would be able to stay properly nourished and medicated. He had to undergo several hours a week of physical and occupational therapy so that his muscles would not atrophy. Evan lost his battle with Tay-Sachs when he was almost 4 ½ years old.

The Ungerleiders have shown great courage in continuing to speak out about their experience in the hopes that it will help other future parents learn the important steps they can take towards starting a healthy family. The Ungerleiders work tirelessly to teach others about the simple, easy genetic testing that can help save them from the heartbreak of these often preventable diseases.

Now, with a spit test readily available, all couples are empowered to know their genetic risks and what they mean for their future children. There’s no better time that now to get screened, and help ensure a healthy and happy year.

Karen Grinzaid, MS, LCGC, CCRC is Executive Director of JScreen, a national non-profit public health initiative dedicated to preventing Jewish genetic diseases.  JScreen is Headquartered in Atlanta at Emory University School of Medicine’s Department of Human Genetics.