Caroline and Randy Gold had the makings of a perfect Jewish couple when they met in 2004. She was 33; he was 31. Within a year they had fallen madly in love, gotten married and were ready to start a family. As active members of their Atlanta Jewish community, they were aware of babies being born with Tay-Sachs disease to Ashkenazi parents so they asked their doctor to test them for what was then called the Ashkenazi Jewish Panel—genetic diseases more prevalent among Ashkenazim than the general population (Canavan, Gaucher, Tay-Sachs, familial dysautonomia, Bloom syndrome, cystic fibrosis, Fanconi anemia and Niemann-Pick). The good news came back: There was no carrier match and soon a healthy boy was born; today, Natanel is 11 years old.

​Two years later, their daughter Eden was born. She lagged behind in her development, and then tests confirmed their worst fears: Eden had a severe neurological disorder known as ML4, a rare Jewish genetic disease that they had not been screened for. Eden, now 9 years old, cannot walk, feed or dress herself or speak beyond a few guttural sounds.

How could this have happened? It was only after Eden’s birth that the Golds learned that there are dozens of Jewish genetic diseases that, back when they were tested, were unknown. They later used in vitro fertilization to have a disease-free third child; their daughter Shai is now 5.

Instead of asking, “Why us?” the Golds asked, “How can we make screening more widely available, using the latest tools and easiest implementation?” Their answer was to develop a screening program under the auspices of Emory University in Atlanta called JScreen, an initiative that tests for Jewish genetic diseases based on a technology that retrieves DNA from saliva rather than a blood sample. “Our vision,” says Randy Gold, “is to provide accessible, comprehensive, accurate and affordable screening so that the example of our daughter, Eden, saves lives every day.”

Jscreen is not alone in screening for Jewish genetic diseases—Ashkenazi, Sephardi and Mizrachi—that insurance usually covers. There are organizations, hospitals, doctors and labs across the country doing it. In Chicago, for example, The Norton & Elaine Sarnoff Center for Jewish Genetics Disorders, like JScreen, offers saliva testing via at-home screening kits not only for Jewish diseases but also for diseases that cross ethnic lines. About 60 percent of the people screened at the Sarnoff center, most of whom are Jewish, carry one of the genetic disorders on their panel. And slightly more than 5 percent are couples carrying the same mutation, which presents a 1 in 4 chance that their offspring will inherit the disease. Bonnie Rochman, author of The Gene Machine, points out that one in every 27 Ashkenazi Jews in the United States is the carrier of a genetic mutation compared to one in 250 people in the general population. The health and science writer says that “it’s important to remember that so-called Jewish diseases strike non-Jews as well.”

In Philadelphia, the Einstein Medical Center’s Victor Center for the Prevention of Jewish Genetic Diseases not only does genetic screening but also focuses on educating the Jewish community about genetic diseases and the importance of testing; its website has a countrywide list of screening providers. (There is also a Victor Center at the Nicklaus Children’s Hospital in Miami.) In New York City, the Mount Sinai Center for Jewish Genetic Diseases—which is the oldest center in the United States for Jewish genetic disorders—provides screening and counseling and also conducts research to improve diagnosis and treatment. (To learn about Hadassah Hospital’s role in screening for Jewish genetic diseases in Israel, please read A Model for Preventing Inherited Disorders by Wendy Elliman.)

Current screening is light years away from what was available to the Golds more than a decade ago. Rapid advances in genetic sequencing are constantly identifying new diseases linked to the mating of recessive genes. And because so many couples are multiracial and multiethnic, there is now a broader pan-ethnic panel for carrier screening. This panel scans for slightly over 200 genetic mutations, many exceedingly rare. Roughly half the mutations are common among the general population and the remainder are prevalent in, but not exclusive to, the Ashkenazi Jewish community. Tay-Sachs, for example, also occurs among those with Irish, Cajun and French Canadian heritage. In the Jewish community in the United States, its incidence was greatly reduced because of screening, but there has been a recent uptick as fewer people are screening for it in the mistaken belief that it had been eradicated. Some of the diseases more typically diagnosed in Sephardi and Mizrachi Jews are alpha thalassemia, GSPD deficiency, Wolman disease and Costeff syndrome.

Genetic science is progressing so rapidly that if couples pause a few years between having children, they should be retested for new discoveries. Awareness about testing has grown immensely, but its popularity remains strongest along the two coasts and in Chicago. “The rest of the country just isn’t as up to speed,” says Dr. Adele Schneider, director of clinical genetics at the Victor center in Philadelphia. “I tested my niece from Denver with a panel of 100 diseases and when she took the results back to her doctor, he was very surprised and told her he’d have tested only for four.”

Typically, a couple will decide to get screened when they’re considering their first pregnancy. Jill Goldberg-Ziv, 35, who lives in New York City, heard about JScreen when an ad popped up on her computer. She and her husband, Amit, 34, a computer programmer, registered because a friend had been screened and turned out to be a carrier. “I wanted to avoid a potential problem,” Jill Goldberg-Ziv says, “and I’m the kind of person who does everything online anyway, so this was perfect.” Within a month, a counselor called: Amit was a carrier for two mild diseases; Jill for none. “I can’t tell you the peace of mind that gave me,” she says.

You never know what testing will reveal. Lauren Zabel, a 28-year-old single woman living in Santa Barbara, Calif., was attending a national Jewish conference in Washington, D.C., a few years ago when she walked by a JScreen booth offering free testing. Almost on a whim, she spit saliva into a cup and found out she was a carrier for ML4. Zabel, a recruiter for Twitter, researched the disease and was shocked when she recognized that the symptoms matched those of a cousin’s severely disabled daughter. Doctors all over the Bay Area had never been able to diagnose the child’s condition beyond labeling it a neurodegenerative disease. “The news really rocked our family,” Zabel says, “especially my cousin, who was furious that genetic screening had never been suggested. Now my brother has been tested and he is also a carrier.”

It’s far more typical for couples to find they are carriers than to learn they are matched carriers. But for those who are, the options have expanded beyond adoption. Today, matched carrier couples can produce a healthy child by one of three ways: Use an egg or sperm donor who is not a carrier. Wait until after conception and do a prenatal diagnosis through either amniocentesis or chorionic villus sampling to evaluate the fetus in utero and, if it is affected, decide whether to continue the pregnancy. Or choose IVF, where only healthy embryos are implanted in the mother’s womb.

Recent news that scientists have successfully used a revolutionary technique called gene editing to alter a gene mutation in the human embryo, thereby eliminating a genetic disease, is also a promising development for carrier couples.

IVF was the choice of Reform Rabbi Jennifer T. Kaluzny of Temple Israel in West Bloomfield, Mich., when she and her husband learned that they both carried the recessive gene for Gaucher. “We decided if we could do something to prevent bringing a child into this world with a disease, we would,” she says. Now they have a daughter, Bayla Shy, 7, and a son, Asher, 5, both conceived through IVF.

Kaluzny is a passionate advocate for genetic screening. “I strongly believe that knowledge is power,” she says, “and people should be educated to get information and make informed choices. I have found ancient Jewish texts that look at the suffering of the child and the suffering of the mother and they conclude that what is paramount is life. Jews should always make the compassionate decision.”

Jewish Genetic Diseases Decrypted

Every person has an estimated 20,000 to 25,000  genes. At the time of conception, individuals receive half their genes from the mother’s egg and the other half from the father’s sperm. Occasionally one gene from either parent—or both—may have a mutation that can cause something as harmless as colorblindness or as harmful as cystic fibrosis. A carrier is a healthy person with one gene mutation in a set. They do not have a disease and their gene mutation can secretly be passed on for generations. But should those impaired genes from both parents link up, it will produce a child born with two mutated genes and an inherited disease.

A 2014 study of Ashkenazi genetics, published by Shai Carmi and his team at Columbia University, explains why Ashkenazim are at higher risk than Sephardim. The study showed that today’s 10 million Ashkenazi Jews descend from a population of only 350 individuals who lived about 600 to 800 years ago. That population derived from both Europe and the Middle East. There is evidence that a drastic reduction in population caused generations of Jews to marry within their community, kept the gene pool from becoming diversified and allowed genetic diseases to flourish.

Genetic mutations among Sephardi and Mizrachi Jews are fewer than among Ashkenazi Jews—in part because they come from more diverse backgrounds—and the diseases vary. Jews from those areas share the same panel of genetic mutations as non-Jews from the same countries of origin. Familial Mediterranean fever, for example, is found among North African and Middle Eastern Jews at the same rate as it is found in non-Jews.​

Carol Saline is a journalist, speaker and author of the photo-essay books Sisters and Mothers & Daughters.