Friday, January 28, 2011

Approach to genetic disorders

I just read through this thread:

Surprisingly, none of the Jewish posters have weighed in. Too bad, because we could add another perspective.

Thanks to a relatively limited gene pool, certain nasty genetic diseases are more common among Jews. One of the earliest to be identified was Tay Sachs disease - a truly nasty disorder in which a child seems normal at birth, but goes downhill at around 6 months and dies before the age of 5. More info here: A carrier of the disease will be perfectly normal, but if 2 carriers have a child, there is a 25% that the child will have the disease.

One of the reasons that Tay Sachs is so well-known in the Jewish community, aside from its nastiness, is that there are widespread screening programs that started around 1971. By widespread, I mean that every Jewish teen is told to go for testing, and in very Orthodox circles, there is an organization that ensures that matchmakers don't set up 2 carriers.

I was raised hearing about this from the time that I was a kid, so I forget somethings that it's a novel idea for some. My parents actually got tested when I was newborn (I was born in 1971) - and they were told that they were carriers. It was a moment of terror for them because I was too young to show symptoms, and yet there was a 1 in 4 chance that I could have a fatal disease. With my sister, they had an amnio. My mom described it as stressful, since she hid the pregnancy until receiving the results, but less stressful that worrying about a baby having it.

I haven't seen much moral debate about this in the community. It's considered obvious that the only way to deal with the disease is by preventing it through screening. Obviously, there are no guarantees in life, and a child who doesn't have Tay Sachs could still have any number of other problems, but if you could prevent a child from suffering with a horrible disease - why wouldn't you? Thanks to the screening, cases of Tay Sachs have become exceeding rare in the Jewish community.

I've seen a bit more moral debate on the question of "what do you do with the information"? The ultra-Orthodox organization Dor Yeshorim doesn't tell those who are tested what their carrier status is, only whether they are genetically compatible with a potential mate. They have concerns that people would avoid testing due to stigma. That's truly unfortunate, because being a carrier in no way affects your life unless you happen to fall in love with another carrier. It just means that you need to tell your kids to get tested themselves.

One option that exists today that my parents didn't have is pre-implantation diagnosis. Yes, it is more expensive and involves more than having an amnio, but it also avoids the possibilities of a second trimester abortion.


Righteous Rasha has a post on Dor Yeshorim, the ultra-Orthodox anonymous testing organization. I agree that anonymous testing is far from ideal, but suppose that an imperfect option that at least prevents genetic diseases is worthwhile if the stigma would otherwise allow tragedies to occur.


Steven said...

Thanks for your blog. Dor Yeshorim is unknown in Australia (except for one small Melbourne hareidi school). All other high school kids are tested for free and receive their full results and councelling is available if needed. In this way the idea of the 'stigma' of being positive doesn't even occur to the kids or parents.

The concept of stigma was created and is being perpetuated by Dor Yeshorim. When people say they are performing an invaluable service, I question this, as it is the doctors, scientists and testing labs the ones doing the research and allowing this to happen, and Dor Yeshorim are just complicating what should be a simple blood test. (Not to mention keeping themselves employed).

JRKmommy said...

By coincidence, I just saw an old article in Mishpocha magazine after reading your comment, about the founder of Dor Yeshorim.

I wouldn't go so far as to say that the stigma is being "created" by Dor Yeshorim. The founder is part of Satmar, and in the article he discussed his experiences with stigma, as the father of 4 children who died of Tay-Sachs:

“You have to understand the culture then. Everyone would hide their sick children, especially if we were talking about a genetic disease. It would put a black mark on the family. Who would want to do a shidduch with a genetically diseased family? At the time, we were living in Monroe. I was probably the first individual in our community who came out and said, 'I have a problem. I'm bleeding to death. Let's make sure no one else has to go through this.'”"

I agree with you that there is no reason that intelligent people should view carrier status as a stigma - but on the other hand, if irrational prejudice would prevent testing, then at least this system prevents tragedies.

Personally, I hadn't heard of Dor Yeshorim until I met Haredi Jews online. In Canada, mass screenings were offered to the Jewish community, and free, non-anonymous genetic testing is available for Jewish genetic diseases through the public health system. I do recall speaking with someone online who was stunned that my parents could have been identified as carriers in late 1971, since she knew that Dor Yeshorim hadn't been around that long. She had no idea that the rest of the Jewish world did testing without them. People deserve to know that alternatives to anonymous testing exist.