Not long from now, prospective parents may “order” an embryo produced from their ovum and sperm lacking any genetic mutations that would have resulted in serious disease, or even in conditions easily repaired by surgery. Even now, in some countries like the US, they can pay privately to choose an embryo of a specific sex.
Fortunately, in the meantime, the assisted reproductive technology that could make these Brave New World technologies possible are being used for a legitimate end – enabling carriers or even sufferers of significant genetic disorders to have normal babies. Such couples were otherwise playing Russian roulette when they conceived a child; they would learn only during pregnancy or at birth if their baby had inherited their disorder.
THE TECHNOLOGY is pre-implantation genetic diagnosis (PGD), in which a single cell is removed from a few-day-old embryo produced by in-vitro
fertilization (IVF) and tested so that a disease-free embryo can be chosen for insertion in the uterus. The basis for this is the $3 billion Human Genome Project, launched by the US government in 1988. Yet the complex PGD technique – like a symphony that requires the melding of professionals with a wide variety of talents and specialties – took a while to be accepted. The first PGD babies were produced in the late 1990s, and about half a dozen Israeli medical centers now offer it; Hadassah University Medical Center in Jerusalem’s Ein Kerem and Rambam Medical Center in Rambam were the first. Sheba Medical Center at Tel Hashomer and Kaplan Medical Center in Rehovot followed.
Only in 2009 did the Health Ministry add PGD to the basket of health services for couples at high risk for having babies with genetic disorders; but the subsidy will cover only two children, whether they are healthy or not. In addition, the ministry does not cover PGD for couples who suffer from or carry the defective gene that causes deafness.
Jerusalem’s Shaare Zedek Medical Center, which began its PGD program in 2004, was among the Israeli pioneers in the technique, and recently held an all-day symposium for professionals in the field to mark the birth of its 100th PGD infant (actually, a sudden surge produced six deliveries while the conference was being planned). This figure put Shaare Zedek ahead of the other Israeli facilities doing PGD, including Tel Aviv Sourasky Medical Center, with 95.
But Shaare Zedek was different. Its US benefactors – Rabbi David and Anita Fuld – established the unit with a $2 million personal donation despite hospital management hesitation over whether it would be needed or wanted. This resulted in an unlimited number of PGD babies to qualified couples before the two-baby subsidy was put in place by the Health Ministry, and the Fulds continue to fund the procedure for those who have had two PGD pregnancies but want more.
ONE IN FIVE Ashkenazi (and fewer Sephardi) Jews is the carrier of a genetic disorder because of millennia spent in isolated and closed communities. Thus such conditions as Tay Sachs, Canavan, fragile X, monotonic dystrophy, cystic fibrosis, Bloom, Gaucher, thalassemia, Duchenne muscular dystrophy, familial dysautonomia, Niemann-Pick disease (type A), Fanconi, retinoblastoma, Marfan, CIPA and other syndromes may be more common. Inbreeding of first cousins in the Arab community brings many genetic diseases as well.
The Fulds – David is a non-practicing Orthodox rabbi, a mohel
and a New York real estate mogul – were present at the conference in Shaare Zedek; they visit Israel frequently, and are actively involved in its ongoing functioning.
Shaare Zedek director-general (and internal medicine and liver specialist) Prof. Jonathan Halevy said at the conference that he had no doubt Fuld “knows more about PGD than I do.” Fuld has voluntarily circumcised many of the babies born healthy thanks to the unit.
The Jerusalem hospital’s interdisciplinary team is headed by PGD lab head Dr. Gheona Altarescu, IVF unit director Prof. Ehud Margalioth, IVF specialist Dr. Talia Eldar-Geva, medical genetics lab director Dr. Pinchas Renbaum and embryologist Dr. Baruch Brooks, along with medical genetics unit director Prof. Ephrat Levy-Lahad.
Margalioth said in his lecture that the techniques have changed somewhat, as today the embryos are cooled quickly by vitrification; this apparently raises the success rate of implantation. Different culture media for growing the embryos have also been developed.
LEVY-LAHAD told The Jerusalem Post
that the multidisciplinary team are able to deal with any single-gene defect or disease, even one they had not handled before. It takes it about a month to set up a system for an unfamiliar new gene. So far, after 106 babies, the hospital says it has produced no sick babies, even though the error rate in PGD labs around the world averages around 3%. “Children are regarded by most Israelis as precious, but some are willing to undergo an abortion for trivial reasons, such as cleft palate, that can be repaired surgically. And genetic counsellors are sometimes sued by couples who have a defective child for not telling them in advance that they could terminate the pregnancy.”
“It is unfortunate,” she continued, “that every error is seen as a potential lawsuit. The weakest points are sample transfers between the IVF and PGD labs. We always double check numbers, and do what we can to minimize it, but you can’t eliminate it. Couples are advised not to have intercourse while undergoing treatment, as this could produce a sick baby that might be regarded as a hospital ‘error.’”
Another potential source of error, she added, is incorrect interpretation of data for diagnosis.
“We are very strict; if you are too strict,” she said, “you would have no embryos to transfer, which is tragic. But misdiagnosing and producing a sick baby is even more tragic,” she continued.
PGD is a very complex process – many times harder than IVF. Despite being skeptical at first, today she regards her hospital’s program as “a huge success, something I helped build but that now works almost independently.” As the Israeli hospital with the highest PGD volume, Shaare Zedek is now doing 140 cycles of IVF for PGD ever year; obviously, pregnancy does not result in the majority of cases, just as IVF is not a sure thing.
She feels very close to families, as many already have an ill child, since carriers were often unaware of having defective genes. While the ministry will not pay for PGD beyond the first two babies produced, Levy-Lahad thinks this is a shortsighted policy, as the ministry does pay for terminating the pregnancy if a fetus is found to suffer from a genetic disease.
The medical geneticist said geneticists around the country are well aware of PGD, but it is still not widely known among the public. Haredim – who undergo coded genetic screening at Dor Yesharim for dozens of diseases but do not know if they are carriers – do not really need PGD because the testing is at an early stage of dating, and few haredi people will marry if they are carriers of serious inherited diseases. But if they do, they could still produce healthy children, thanks to IVF+PGD. Only about a third of Shaare Zedek’s PGD patients are religious Jews, even though the hospital is an observant institution.
PGD CAN ALSO be used to select embryos of either sex, but this is legal mostly for sex-linked diseases. The only current exceptions are married couples who have at least four children of the same sex and who claim “serious psychological distress” from not having a child of the opposite sex. The ministry has a special committee to approve such exceptions.
Levy-Lahad said she is opposed to this non-medical sex-selection idea, but would observe the law. Some observant couples might want to choose the sex of their baby because the commandment to “Be fruitful and multiply” is understood as referring to at least one girl and boy. But Levy-Lahad has heard that some rabbis regard PGD as an improper, unnatural way to do this. Even IVF, which requires the taking of powerful hormones to stimulate ovulation, can pose health dangers to the mother and should not be considered lightly.
In any case, she believes non-medical sex selection using PGD should not be conducted with public funds. “There is no private PGD lab in the country, so the public purse should not have to subsidize it,” she insisted. But Australia, among other places, has private PGD and IVF labs.
Those societies that believe life begins at conception will not encourage PGD, because one couldn’t dispose of embryos unsuitable for use. Oddly, in the US – where doctors who perform abortions are sometimes murdered by fanatics – there are no guidelines on PGD sex selection, so the procedure is done privately.
The majority of PGD professionals from around the country who attended
the Shaare Zedek conference were women. Levy-Lahad noted that women
outnumber men in genetics “because there’s no money in it. There are no
private medical services in genetics, but the field offers a lot of
satisfaction. They meet couples they treated wheeling in their healthy
baby for a visit. Very often, men who are primary breadwinners take a
higher-paying job that they don’t really enjoy.” Women who are not
primary providers can indulge themselves, she said, with a career they
love, though it offers relatively low pay, she said. It is also
convenient for women in that their work usually has normal hours.
In another five years or so, “we will be able to test for a lot more
conditions. Geneticists will have to set priorities, as there will be
no ‘normal’ or ‘perfect’ person. Everybody has a combination of genes
that increases their risk for a serious condition even if they don’t
have a single defective gene for one disease.” As genetic testing
becomes cheaper and more widespread, one will be able to screen one’s
whole genome for cancer, dementia and other things that could develop.
“As embryology techniques become more advanced, one could produce
embryos by IVF, then freeze them for a few days, perform PGD to
identify genetic problems and implant the healthy ones a few days
later. I hope embryos will not be tested for frivolous things such as
eye and hair color. This would pose many ethical problems,” Levy-Lahad