Carriers themselves are healthy, but when two carriers with the same mutation have a child, their offspring has a one in four chance of inheriting two defective genes - and thus, the illness.
"Most of these diseases are very severe and fatal," Victor said. "The effects that these afflicted children have on the entire family dynamic are indescribable. It's very bad for the couples."
She speaks from personal experience. Fifty years ago, before any screening tests existed, Victor and her then-husband unknowingly played genetic roulette and lost - twice. Their first daughter died at age 8 of familial dysautonomia, which damages parts of the nervous system. Their other daughter died of the disorder at age 35.
Still, the idea to underwrite a genetic counseling and screening center did not take shape until years later, when Victor met Adele Schneider, Einstein's director of clinical genetics.
In 2002, Einstein's Victor Center opened and began offering screening at synagogues, college Hillel centers, and other locations. Since then, centers have been added in Boston and Miami.
"Adele and I started to talk and it turned out to be an excellent partnership," Victor said. "What better cause than to bring healthy children into the world?" (Victor would not say how much money she has given, but said: "I've been blessed that I have more than I need.")
To avoid having an affected child, a couple can opt for adoption, use donor sperm or eggs, or undergo an in-vitro fertility treatment that enables the implantation of unaffected embryos. They can have fetal testing early in a pregnancy if they are willing to consider abortion.
Carrier screening based on ethnic identity is neither new nor without controversy.
