Jewish Genetics

I found this very interesting:

Thirty-five years after genetic screening was first used to identify babies at risk of being born with debilitating diseases, a new study of a potentially serious but treatable illness among Ashkenazi Jews questions whether such testing has gone too far.

One-quarter of fetuses found to have Gaucher disease were aborted over an eight-year period, even though half of all children with the metabolic disorder will never experience any symptoms, such as pain, organ enlargement and anemia. The rest can lead normal lives with treatment.

Importantly, the researchers found that among couples who met with a Gaucher expert and learned that the disease was treatable, only 8% chose to terminate their pregnancies. All of the couples who didn't have those meetings opted for abortion.

The disparity underscores what some experts say is a flaw in genetic testing: It provides a bounty of knowledge that is not necessarily accompanied by wisdom.

The study, published today in the Journal of the American Medical Assn., tracked nearly 29,000 Israelis who opted to be screened for mutations in their DNA that could lead to Gaucher disease in their children if they inherit faulty genes from both parents.

Similar screening tests are offered to other specific ethnic groups predisposed to disorders, such as albinism and congenital deafness.

Dr. William R. Wilcox, who treats Gaucher patients at the Medical Genetics Institute at Cedars-Sinai Medical Center in Los Angeles and was not involved in the study, said that given the ambiguity inherent in some genetic tests, they should not be given for diseases that are imminently treatable.

"Personally, that horrifies me," he said. "Why is it there? Because we can do it. But just because we can doesn't mean we should."

This really is, as the article calls it, a conundrum. On the one hand, it seems to be a no-brainer that if genetic testing can prepare parents for the possibility of raising an ill child, they should go through with the testing so as to make the most informed decisions about treatment. It seems especially apparent for catastrophic diseases such as Tay-Sachs. But for diseases that are relatively mild, I understand the concern that putting the information into the hands of these parents might cause these parents to make bad choices. But I don't really see stopping the testing of fetuses for diseases such as Gaucher's - out of fear that the expectant parents will abort - to be any sort of solution.

Prenatal diagnostic tests like ultrasound and Nuchal Transluscency can detect a host of problems with a fetus, some of which might incline the expectant parents to abort - yet no one is suggesting that these parents forego these important tests and let nature take its course, simply because of the fear that a treatable child might be aborted. Abortion is perfectly legal in this country, and as long as it is, people will be terminating perfectly healthy pregnancies for reasons such as poor timing and the fetus's gender - and certainly over manageable issues such as blindness or a mild limb deformity. However sad that may be, that's their choice as afforded to them by living in this country. The decision to abort a fetus over the findings of genetic testing is a choice as well - whether the disease is as mild as Gaucher's can be, or much more severe. In addition, the discussion here about Gaucher's also doesn't really address the very real possibility that Gaucher's can present as the most serious form that causes fatality at a young age.

So should genetic testing facilities consider finding a way to better counsel parents who find out they are carrying an affected fetus? Yes. Should they fully address with these parents the possibility of having a child who has the mildest manifestation of the diseases and thus could live a perfectly normal life? Of course. But I do still think that is preferable to not testing for the disease as all.

Of course the halachic aspect of this question is a whole different discussion - the severity of an illness is certainly a factor, and restrictions on abortion are far stronger than they are in a legal discussion, though there are cases where it is halachically permissible. That said, this discussion is obviously not about those couples who are making these decision from a halachic perspective - where they should proceed under the guidance of a trusted Rav. It's about the inclusion of Gaucher's and other potentially mild diseases in the so-called "Jewish Cocktail" of genetic tests that are recommended for prospective parents who are Jews of Ashkenazi descent.

I recognize that some might feel that testing for mild diseases has us skating on the thin ice of eugenics, but I simply don't think it crosses that line. This isn't about testing for things like seasonal allergies or a lack of athleticism or even a preferred gender in a quest to produce a superbaby. It's about testing for diseases that are potentially fatal, and allowing parents to make informed decisions about their child's future care - whether their decisions are good ones or not. Their will always be people who make poor choices in life. That doesn't, in my opinion, justify taking away a test that can do a lot of good - to simply protect people from themselves.