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Wednesday, September 19, 2007

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.

65 Comments:

Anonymous Anonymous said...

Unfortunately (or fortunately for some), when it comes to DNA and genetic testing, they don't look for one specific trait. They look for a whole host of traits.

So, while you may have genetic exposure to, for example, Gaucher's, they run all the genetic tests.

I agree that genetic testing can be taken too far.

10:49 AM  
Anonymous Anonymous said...

great post. Is om really back?

10:53 AM  
Anonymous A Genetic Counselor said...

Another great example of why we need genetic counselors on staff anywhere testing is being performed. Counseling should be included with the testing, not an option or an afterthought. Gaucher is now on the panel for Dor Yesharim.

10:55 AM  
Anonymous Anonymous said...

Testing the mother before she gets pregnant would help avoid this issue. If she is a carrier of any of the genetic diseases, then her husband should be tested as well. Waiting until she's pregnant and then testing, is like waiting until after sex to take birth control pills.

Dor Yeshorim has the right idea, but they take it too far when they don't tell you the results of your own blood test. Every person should be aware of whether they are a carrier or not, including men.

2:47 PM  
Anonymous Anonymous said...

Anon 2:47, I agree that testing before marriage is wise, so that one goes into the marriage with all possible information. But this doesn't eliminate the need to test while pregnant. My husband and I pre-tested, decided to have our own genetic children, knowing the risks. So additional testing during pregnancy was wise. Couple who are carriers for fatal disorders may decide to adopt instead of having genetic children, but for other disorders, it's good to know during pregnancy as well.

2:54 PM  
Anonymous Fox said...

The most important thing we can do as a community is try to avoid stigmatizing individuals with illnesses or disabilities or their families.

How often have you heard of a suggested shidduch that was refused because of a relatively inconsequential medical condition?

How often have you heard the response, "Oy, nebach" to news of a new baby with medical issues rather than a simple, "mazel tov"?

How often do our schools -- despite professed commitment to serving children with mild special needs -- act as if they're doing parents a tremendous favor by educating a less than "perfect" child?

This is not to deny the very real costs -- financial and otherwise. I'm not climbing on a soapbox about mainstreaming or any other complexe issue.

As long as peer pressure in our community rejects any child who is physically or mentally less than "perfect", there will be parents even in our communities who will succumb to the temptation to end a pregnancy rather than risk their neighbors' tsk-tsking.

4:03 PM  
Anonymous Anonymous said...

fox, what you're saying really doesn't apply in my Conservative community. People don't feel community pressure to terminate, but they may terminate a pregnancy if they feel that they personally cannot handle a certain situation. I think that it is a very personal choice, and one nobody, even those raising a child with a disease or disability, can decide for anybody else. Honestly, there are some conditions for which I would have terminated my pregnancies, and some for which I would not. Only a couple knows what they can handle.

As far as somebody rejecting a shidduch because of a minor medical condition, I would not want to marry the kind of person who would do so. Frankly, it weeds out the kinds of people who most of us wouldn't want to deal with, anyway. I would not want my children to marry somebody intolerant or immature.

4:19 PM  
Anonymous Anonymous said...

fox, what you're saying really doesn't apply in my Conservative community. People don't feel community pressure to terminate, but they may terminate a pregnancy if they feel that they personally cannot handle a certain situation. I think that it is a very personal choice, and one nobody, even those raising a child with a disease or disability, can decide for anybody else. Honestly, there are some conditions for which I would have terminated my pregnancies, and some for which I would not. Only a couple knows what they can handle.

As far as somebody rejecting a shidduch because of a minor medical condition, I would not want to marry the kind of person who would do so. Frankly, it weeds out the kinds of people who most of us wouldn't want to deal with, anyway. I would not want my children to marry somebody intolerant or immature.

4:19 PM  
Anonymous Anonymous said...

fox, what you're saying really doesn't apply in my Conservative community. People don't feel community pressure to terminate, but they may terminate a pregnancy if they feel that they personally cannot handle a certain situation. I think that it is a very personal choice, and one nobody, even those raising a child with a disease or disability, can decide for anybody else. Honestly, there are some conditions for which I would have terminated my pregnancies, and some for which I would not. Only a couple knows what they can handle.

As far as somebody rejecting a shidduch because of a minor medical condition, I would not want to marry the kind of person who would do so. Frankly, it weeds out the kinds of people who most of us wouldn't want to deal with, anyway. I would not want my children to marry somebody intolerant or immature.

4:19 PM  
Anonymous Anonymous said...

So sorry, I have no idea why that posted three times!

4:20 PM  
Blogger David said...

It would be worth it for people to (re)-read Brave New World before going too far in these discussions. It provides a reality check on some of the long-term moral and ethical implications of eugenics which is not often found outside of science fiction.

4:35 PM  
Anonymous Anonymous said...

David, I think it's incredibly offensive for you to use Brave New World and eugenics as a way to discuss the very difficult decision faced by families when pregnancies that may be affected by various disorders. It is not our right to judge how others handle such situations. Trust me, it is incredibly difficult to make such a decision and most of us can only be grateful that we haven't faced it.

4:39 PM  
Anonymous Anonymous said...

Oops, I screwed up that sentence. It should have read, "as a way to discuss the very difficult decision faced by pregnancies where babies may be affected by various disorders."

4:47 PM  
Anonymous Fox said...

Here's the problem: many people don't really have the knowledge or wisdom to distinguish between a mild or manageable condition and a catastrophic situation. Likewise, prenatal testing often reveals the presence of an abnormality, but doesn't reveal what, if any, ramifications it will have on day-to-day life.

Obviously, terminating a pregnancy is difficult personally, but most of us are not objective in our evaluation of "what we can handle".

When it was needed, I found that I was perfectly capable of caring for my child's trach, doing physical therapy, etc. Had you asked me *before* the birth of my child, I would have probably demurred.

Fortunately, halacha prevented me from making decisions based on incomplete information as well as an underestimation of my own abilities.

6:13 PM  
Anonymous Anonymous said...

This is a very slippery slope, to say that people simply will not carry a pregnancy through because they don't know how strong they are. The two people I know who terminated pregnancies after tests knew exactly what they could and wanted to handle. Their decisions were not easy, but they did what they knew was best for them and for their families.

It always bothers me when parents of a child with Down Syndrome and any other disorder gets angry about somebody else terminating a similar pregnancy. None of us can say what somebody else would and should do, we can only speak for ourselves.

6:26 PM  
Anonymous GilaB said...

One of my problems with Dor Yesharim is that they test for Gaucher's disease, and will tell you that a shidduch is 'not a match' because both people are carriers. As they won't tell you why it isn't good, many people either don't go out (if they match Dor Yesharim numbers before dating), or are forced to break up (if they only test before getting engaged, as my husband and I did) because of something that may or may not be a problem. They don't let you have enough information to make informed decisions.

12:22 AM  
Anonymous Anonymous said...

gilab,
Why would anybody let genetic testing determine who they will consider for marriage? If I was interested in somebody, I wouldn't let the possiblity of an affected child determine whether I would consider marriage with them. If it meant adopting or using donor sperm or egg, I would do it. Anybody who lets genetic testing do more than just make informed decisions about children is giving it far too much weight.

8:33 AM  
Anonymous gilab said...

Look, if they had told me that my husband and I were 'not a match,' we would have gone for the very expensive genetic testing at places that trust you enough to tell you what it is you're carrying, and made our decisions with actual information. But many people won't even go out with someone without the pair being declared OK by Dor Yesharim. I think that the work that DY does is important, and I understand why they've chosen not to tell people specifics, but I think that if they're going to opt to function this way, they shouldn't include Gaucher's in their panel.

9:24 AM  
Anonymous Anonymous said...

I think it is poor judgment for people to give Dor Yesharim so much power. As far as including Gaucher's, there are three kinds of Gaucher's. One is considered very manageable, and two affect central nervous system and are fatal. I think it must be included. If people find out that they are carriers for Gaucher's, they need to know which mutations they carry.

Marriage is about love and compatibility, not genetics. Nobody should be silly enough to make decisions about marrying based on genetics.

10:38 AM  
Anonymous Anonymous said...

I want to add one more option to the ones I mentioned before, which were adoption, donor egg or donor sperm. There is also IVF using PGD, which can test a potential embryo for potential diseases. True, this is expensive, but it is another way to marry and ensure that one's child won't be born with a potentially fatal disease.

10:40 AM  
Anonymous Anonymous said...

Yikes, just reread my post and realize I used potential or potentially many times. I'm am potentially the most potentially redundant person here, potentially speaking!

10:48 AM  
Anonymous Anonymous said...

Off topic,

Can somebody help me out? I have responded several times in this topic, and tried to use a name other than anonymous, but it won't let me. Every time I try, it just want put up my post, and I have to resort to Anonymous again. Am I doing something wrong? I think it would be beneficial to able to identify myself. Maybe I'll just have to sign the post itself.

I'll sign myself --

Sort of Anonymous

10:49 AM  
Anonymous Anonymous said...

I have to agree that it is troubling that ppl are not dating when there are options out there. I think if s/o comes up as a mismatch on DY they should consider going for a full genetics panel privately to find out what you actually carry and what the risks are.
And IVF with PGD is not as bad as it sounds, and is the option I would choose if god forbid I was faced with this dilemma.

11:40 AM  
Anonymous Anonymous said...

Most people dating don't really know the person they are dating very well before they are married. If you can prevent a potential problem by genetic testing, and then have both sides marry someone else in which they can have their own kids naturally without these potential problems, then why not?

5:25 PM  
Anonymous Anonymous said...

Anon 5:25, I don't think you're correct. I've been married twice and knew both husbands very well, loved them deeply by the time we were married. No genetic problem would have kept me from marrying either one of them.

9:31 PM  
Anonymous Anonymous said...

i did dor yeshurin in high school but my husband didn't. so before we got engaged i took a simple blood test and i got the results. it turned out i was potentially a carrier of tay sachs. i say potential, it was inconclusive and more tests needed to be done. it was a very funny night in my house with my parents blaming each other who gave me the trait, but anyways, it was also a stressful night while i waited for my then boyfriend to take a simple blood test as well. alls well that ends well as they say, and he tested negative for tay sachs and all the other diseases he was tested for.

i don't know why we need dor yeshurun - why cant we all do our own blood tests?

9:41 PM  
Anonymous gilab said...

Dor yesharim costs about $200, because they're subsidizing with donations. Most other places that offer the tests ask you to pay the whole amount, usually over $1000, which is why I opted to try Dor Yesharim - if my future husband and I 'didn't match', I'd have paid for the full testing, but I was gambling that I wouldn't need to. FWIW, he and I knew each other quite well at that point, and would have been devastated by a 'not a match,' although we would have explored options such as PGD rather than broken up.

In many communities, particularly in those that both lack a sophisticated understanding of genetics and have a very competitive approach to matchmaking, there is the sense that if people knew what they were carriers for, they would be wrongly discriminated against in dating. I understand that this is why Dor Yesharim does what it does, but feel that it isn't the best approach; I'd prefer to know what I carry, and that they offered more community education so that people would better understand what to do with such knowlege.

12:09 AM  
Anonymous Anonymous said...

Most hospitals have Genetics departments that do genetic testing before marriage, and they take most, if not all, insurance. I have pretty lousy health insurance but our genetic testing cost me a $20 co-pay. I have had several phone calls with the genetics counselor and one of the doctors there, and I was charged nothing for those. I much prefer this to an organization that tests kids and actually tells them they are a good match or a bad match. I like to choose who to marry and deal with our reproductive realities afterward, just like the rest of the population.

Anybody who would discriminate against a potential life partner due to some issue of genetics is, in my opinion, a short-sighted moron. We are all carriers for several diseases, and there is always the potential that our partner will be, as well. Intelligent people don't choose spouses by looking at this so seriously. Intelligent people look at the reality of their situation, genetic and otherwise, and decide how to deal.

8:12 AM  
Anonymous Anonymous said...

Want to add that we also had an extended sit-down meeting with the hospital's physician who specializes in genetics, and this cost us nothing, as well. I honestly question this organization that tests without real education, and actually sways people in terms of marital decisions. No wonder there's a "shidduch crisis."

8:14 AM  
Blogger Orthoprax said...

What's wrong with eugenics? Granted, it can and has been misused in history, but so has virtually every form of technology. There's nothing inherently wrong with our being selective with the genes we give to our descendants - and indeed, in some cases it's downright immoral to be careless in this matter.

Frankly - every single-site genetic disease is a complete shame because they can be easily avoided with increased human knowledge. Everyone in today's day and age should have themselves tested when they want to have a child and ensure that they aren't going to be passing on anything rotten. Seriously, how can anyone dare to maintain their ignorance and then call themselves caring parents?

7:24 AM  
Anonymous Anonymous said...

Expand the gene pool. Go outside the little circles to expand them.

8:38 AM  
Anonymous Anonymous said...

my blood work was a copay.

8:33 PM  
Blogger littlejerseygirl said...

We did Dor Yeshorim before we got married, but when I went to my ob when I was pregnant they made me do all the genetic testing again. Many doctors - especially out of town ones - have never heard of Dor Yeshorim and would not rely on it. I couldn't even tell them what I was tested for, and they are always adding new tests to the mix. Of course, I could always tell the doctor that I am not interested in the tests, but that would make me look stupid since at the very least, I should be prepared for what is coming.

It turns out that am a carrier for Gauchers, so my husband had to get tested as well. He was negative.
I am currently pregnant with my fourth child. Since I have switched Doctors (5th ob in 7 years - stupid insurance) and they didn't have my old records, I did all the testing again. Apparently they added new stuff. They took 14 viles of blood. My veins hurt.

9:32 PM  
Anonymous Anonymous said...

As far as the original issue, I am a real believer in genetic testing. The more information you have, the better it is. We tested positive as carriers for Gaucher's and have since had a child who has the disease. Luckily for him, we were both carriers for the mildest mutation. Also luckily for him, we knew about the situation before we had him. We didn't wait for symptoms to develop and do irreparable damage to his bones or various organs. We've been able to keep him closely watched by Gaucher's experts.

We did our testing at a major medical center where they have continued to hold our records and keep us up-to-date on additional tests that are available to the public, as they become available. Our genetics counselors have been wonderful, and our insurance has covered all of it.

I am also glad that neither of us had done testing with an organization that would have discouraged us from getting together in the first place. I love my husband and children.

I don't judge those who get their results and decide that they don't want to deal with this, or other, diseases. These are very personal decisions. The day we got our results another family got the same ones, and they decided to terminate their pregnancy. I would never judge them for this decision. They did what was right for them, we did what was right for us.

10:09 PM  
Anonymous Anonymous said...

Genetic testing was not developed to influence individual decisions. the goal of the organizations that promoted Tay sachs and similar testing was to completely eliminate the disease. Thus if you decide not to abort, then even in mild cases the disease will still be perpetuated - the same if you choose to marry someone who is a carrier of the defective gene. That's why they Dor yeshar does what it does. I'm not saying it's right or wrong, just that we should understand

8:26 AM  
Anonymous Anonymous said...

To anon 8:26,

As much as I'd like to eliminate diseases, I do not think that the notion of preventing marriages (in order to prevent people who are carriers from marrying each other) is a positive one. People have options, such as IVF with PGD. We are all carriers for something, to avoid marrying particular people because they are carriers for the same diseases is just insane. Many, many Jews of Eastern European descent are carriers for Gaucher's Disease. It's hard enough to find love. I'm glad I didn't have to eliminate every man who was also a carrier for Gaucher's. Even people with Huntington's Disease or any other number of inherited diseases deserve to marry people they love. Once you are married, you explore the options (PGD, adoption, donor egg or sperm, etc.) and then make your decisions about how to handle things. To me, this organization and the results of its efforts sound very misguided.

11:02 AM  
Blogger Hypatia said...

Some musings:
I'm blind as a result of one of those genes people don't like.
I'm glad I'm here. And I'm gllad to be all of who aI am. I'm not so happy, however, about the exclusion and discrimination I experience at the hands of other Jews.
Nothing, in the name of "preparation" could have helped my parents - more than thirty years later my father is still "ashamed of giving me a defective gene" (his perspective, not mine).
However, the Jewish community is pretty obsessed with this genetic purity business (from where might we have learned to prize this concept?). Even without genetic screening, there are large parts of the community where people hide away or give away disabled kids out of fear their other kids won't be able to make a shidduch? And what, exactly, is that fear about?
How is it that there are people who study the words of two blind rabbis in the Talmud daily and yet have so little acceptance for what might be seen as imperfections in some of us in their midst?
If we are all created in G-d's image, how does someone label us "defective" anyway?
What's wrong with deploring this sort of thing?

3:24 AM  
Anonymous Anonymous said...

Yes, "Rabbi" Neal, I have seen the light! Thank you for your post, this is EXACTLY the right place for it. But before Jesus joins us in the sukkah -- does he eat red meat? Because we're having brisket, and some people don't go for it these days.

Thanks!

Signed,
Grateful Jew

8:05 PM  
Anonymous Anonymous said...

It's just like the rednecks in west virginia inbreeding causes all kinds of genetic defects. You people are not created in God's image you are an example of his anger for being a non believer. Rabbi Neal there can be no such thing as Jews for Jesus he does not want you either

8:21 PM  
Anonymous Okay said...

I got married before the advent of Dor Yeshorim and before genetic testing was widely available. It was first being introduced around the time of my second pregnancy.

For my friends who got married before me every pregnancy was playing Russian Roulette. Until you have sat by and held the hand of a mother who is losing her second child to Tay Sachs you cannot possibly know what agony is.

Does the system need fixing? Yes. But the "blessings" far outweigh the problems. Do some people "abuse" the results? Quite probably. This is no reason to take everyone back to the dark ages.

8:50 PM  
Anonymous Anonymous said...

I am a Christian, not a Jew, but concerning this article I think we should be in complete agreement. I read the old testament daily, which I believe is your Torah. And I believe in that series of books, several times, says do not kill.

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