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Procedure Offers Hope for Families

Pre-implantation genetic diagnosis, a fairly new procedure that allows embryos created outside the uterus to be screened for genetic diseases, has been embraced by some Jewish couples who carry the mutations for diseases such as Tay-Sachs. But even as the procedure, known as PGD, offers these families the hope of healthy children — and in theory allows them to avoid the anguish of abortion — questions about its advisability persist.

“It’s certainly an option, but it’s a new option and there are still questions involved about safety, efficacy and access that have no conclusive, scientific answers yet,” said Dr. Michael Kaback, a professor of reproductive and pediatric medicine at the University of California at San Diego and director of the California Tay-Sachs Prevention Program, a genetic screening program. “When you are manipulating human embryos and taking out a cell or two, what implication does this have for the intact organism that grows out of that?”

“There is no long-range outcome study that shows there is no reason to be concerned,” Kaback continued. “Conceivably there could be deleterious effects, maybe not as obvious as a missing limb, but it could take several years before developmental problems become apparent.”

Moreover, Kaback said, opting for in vitro fertilization in order to take advantage of PGD is no guarantee of being able to avoid an abortion, because in vitro fertilization procedures involve multiple embryos being created and implanted into the uterus. “If three or four embryos are transferred into a woman [and] if they all take, you get into a situation called fetal reduction, in which some of the fetuses have to be destroyed because a multiple gestation pregnancy might cause harm to the woman,” Kaback said. “The very reason for having a PGD was to avoid termination of pregnancy, but now you might have to go through an unknown, risky procedure of fetal reduction, which is ethically very complicated.”

Such issues aside, families who want to try PGD are discovering another high hurdle to undergoing the procedure: It is costly and seldom covered by insurance. Most clinics performing PGD in the United States charge between $15,000 and $20,000 for the procedure, including in vitro fertilization.

Rachael and Brent Kornblum, a St. Louis Tay-Sachs carrier couple who are Orthodox, rejected amniocentesis as a potential screening method because they are opposed to abortion for religious reasons. An infertility specialist in St. Louis advised them that their best option was using in vitro fertilization and PGD, but the procedure was not covered by their insurance.

“If it’s considered a genetic problem [the insurance company] doesn’t care about you,” Rachael said. The Kornblums did not have the resources to pay for such an expensive procedure on their own.

“Only if you are infertile does insurance cover a percentage of it,” Rachael said. “Because we are not infertile, they wouldn’t even cover the IVF portion of the treatment.”

Since the procedure was cheaper in Belgium — about $8,000 including travel — the Kornblums decided to do it at a clinic there.

But having a complicated medical procedure done in Europe proved daunting. “Doing pre-testing and sending samples abroad was a real pain,” Rachael said. “Brent also wasn’t too happy about the idea of keeping kosher abroad. Everything was taking longer than expected, and before we knew it, it was already March [2003] and I had wanted to do it over the summer, but they said since we were having trouble with our blood samples we couldn’t do it until December.”

Rachael, a teacher, did not want to abandon her students during the school year and wanted to do the procedure over the summer vacation.

For advice, she and her husband turned to the National Tay-Sachs and Allied Diseases Foundation, which acts as a clearinghouse for support and research on Jewish genetic diseases. Through the foundation, they heard about the Jones Institute at Eastern Virginia Medical School in Norfolk, Va., which in 1994 became the first clinic in the world to facilitate a couple giving birth to a Tay-Sachs-free child through PGD. Of 50 PGD procedures performed at the Jones Institute, six procedures have been done on embryos of Tay-Sachs carriers. Of the six participating mothers, three have healthy children, one is pregnant with an unaffected fetus and two women did not get pregnant.

The cost of the procedure there was less than the national average — about $13,000, including in vitro fertilization. The Kornblums immediately canceled their plans to go to Belgium and in May of this year had the procedure done at the Jones Institute. Rachael Kornblum is now pregnant.

To finance the cost of their PGD, the Kornblums sent letters to members of the Jewish community in St. Louis, who in turn passed on letters to their friends and relatives and managed to raise the entire cost of the procedure, including travel, through tax-deductible donations handled by their synagogue.

“A lot of people finance their PGD through second mortgages, home-equity loans and credit cards,” said Sue Gitlin, the research scientist who oversees the PGD program at the Jones Institute and worked closely with the Kornblums.

“The technology is very expensive,” Gitlin said. “We don’t make any money off it.”

Anne and her husband Neil, who to preserve their privacy requested that their last name not be used, are a second couple who opted for PGD at the Jones Institute. After three miscarriages and one terminated Tay-Sachs pregnancy, Anne’s interest was piqued when she came across an article describing how PGD was enabling Cystic Fibrosis carriers to have disease-free children. When Anne read that the process was also being used for Tay-Sachs carriers, she and her husband Neil said they suddenly felt hopeful that they could have healthy children who were biologically their own.

A PGD and in vitro fertilization attempt at a Baltimore clinic that did not result in a pregnancy left Anne ready to explore other options for having children, including donor sperm, donor eggs or adoption. But Neil was steadfast in wanting to have a child that was biologically theirs, so Anne agreed to try PGD one more time.

“I felt like I could try PGD once more because suffering a loss without actually getting pregnant and having to terminate the baby would be easier to bear,” she said.

In November 1997, Anne gave birth to her first child, Rachel, after five unsuccessful attempts at having a child. Five months later, she became pregnant with Sarah naturally; her second child was also Tay-Sachs free.

“After the PGD worked successfully [with Rachel] I felt I was able to try the natural way again,” Anne said. “If I was 10 years younger and considering having a third child, though, I would definitely consider doing PGD again.”

Their successful experience with PGD made Anne and Neil advocates of the procedure.

“We were floored, and continue to be floored by the lack of general information,” Neil said. “We were working with some of the best people on the planet, some top-flight people within the Tay-Sachs community and no one ever mentioned a word about it.”

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