Jennifer Kaluzny was screened for inherited disorders more common to the Jewish community long before she was married in 2007, simply because it seemed like a good idea.
Kaluzny, a rabbi at Temple Israel in West Bloomfield, was not altogether surprised to learn that she carried a gene mutation. Approximately one in three Jews of Ashkenazi heritage is a carrier for one of the dozens of disorders commonly called “Jewish genetic diseases.” When other disorders are included, the figure rises to 60 percent.
Carriers do not get the genetic disorder, nor do their children — unless the other parent is also a carrier.
Kaluzny, 40, was shocked to learn that her husband, Ryan, 44, assistant city attorney for Royal Oak, carried the same mutation for Gaucher disease. Their children would have a 1 in 4 chance of being born with the fatal disorder.
September is Tay-Sachs Awareness Month, highlighting a genetic disorder much more prevalent in the Jewish community than in the population at large. Concern about Tay-Sachs led to interest in screening for Jewish genetic diseases in the 1970s.
Since then, the incidence of Tay-Sachs disease, which is invariably fatal, has fallen by more than 90 percent because of genetic screening.
Screening Gets Easier
In the past, screening was done by a blood test administered at a physician’s office or clinic or during a mass screening event.
Now, a DNA sample, which can be collected easily at home, can be screened for more than 200 genetic disorders, including the “Ashkenazi Jewish genetic panel” that includes Tay-Sachs, familial dysautonomia, Bloom syndrome, Fanconi anemia and Niemann-Pick disease. It can also be used to test for genetic disorders more common in Sephardic and Mizrachi Jews.
JScreen, a nonprofit community-based public health program based at Emory University School of Medicine in Atlanta, provides a “spit kit” that can be ordered online and mailed to the lab for screening. The procedure costs $149 for those with private insurance; limited financial assistance is available.
JScreen was started by Caroline and Randy Gold of Atlanta. They’d had the standard genetic screening available years ago before their son, Natanel, 11, was born. But it did not screen for Mucolipidosis Type IV (ML4), and they were devastated when their daughter Eden was born with that very rare disorder. Eden, 9, cannot walk, feed or dress herself, or speak beyond a few guttural sounds.
In the past, couples who knew they were both carriers for a genetic disease had limited options in family planning. They could remain childless or adopt. Or they could conceive naturally and, if in-utero tests showed the fetus had the disease, they could decide if they wanted to terminate the pregnancy.
Reproductive science has come a long way. Now couples can choose to use a donor egg or sperm, or, as the Kaluznys did, they can conceive via in-vitro fertilization (IVF) with preimplantation genetic diagnosis.
After fertilization, embryos are tested and only those that do not have the disorder are implanted and, hopefully, carried to term.
“There was a lot of blood work. And waiting. And money,” said Kaluzny. But, she added, “the technology is out there, so why not do everything you can to ensure the health and wellbeing of your children?”
In her first pregnancy, two embryos were implanted, one that was a carrier and one that was mutation-free. Their daughter, Bayla, 7, is perfectly healthy. Kaluzny’s second pregnancy, again using one carrier and one non-carrier embryo, resulted in the birth of twins, Asher and Sage, two years later. Unfortunately, Sage died soon after birth because of an unrelated medical problem.
The Kaluznys don’t know if Bayla and Asher are carriers of the gene mutation or not; they will undoubtedly be screened when they are older.
Several other organizations offer screenings similar to JScreen, including the Norton & Elaine Sarnoff Center for Jewish Genetics Disorders in Chicago.
Screening In The Orthodox Community
The Orthodox community has another avenue for genetic screening so that adults of childbearing age can learn if a potential match is safe.
Dor Yeshorim was started 33 years ago by Rabbi Yosef Ekstein after he and his wife lost four children to Tay-Sachs disease. He determined other couples should not suffer similar heartbreak.
Dor Yeshorim uses blood samples rather than DNA swabs. The organization conducts mass screening drives at high schools, yeshivas and colleges around the world.
Participants are identified only by a number. When a young couple start dating, or even before, they submit their ID numbers to Dor Yeshorim. Unless both are carriers of the same gene mutation, Dor Yeshorim tells them they are compatible. Those who are not compatible usually break off the relationship before it leads to talk of marriage.
Confidentiality ensures individuals won’t feel any stigma knowing they are carriers when it likely will have no effect on their lives or the lives of their children, said Rabbi Leiby Burnham, director of Partners Detroit’s Young Professionals Division.
Dor Yeshorim charges $275 for individuals and $200 to participate in a mass screening.
Burnham said he and his wife would not get engaged until they got the “green light” from Dor Yeshorim.
“I definitely plan on having all my children get genetic screening. It could save them from so much pain and suffering down the line!” he said.
Jerry Feldman, M.D., a professor at Wayne State University School of Medicine and director of its Clinical Genetic Services, says the number of identified disorders more common in the Ashkenazi Jewish community has grown to more than 80, but he notes that beyond that, different labs may test for additional mutations that are found in many ethnic groups. “There’s no such thing as a standard panel anymore,” he said.
New genes are continually being added to the screens, so couples who were tested several years ago and are considering having another child might want to be retested.