Monday, March 8, 2010

Genetic Testing: A Layman's Summary

The topic of genetic testing within the realm of dating/marriage came up in a series of comments on one of Bad For Shidduchim’s posts a short while ago (I forget which one, sorry). Most people who replied knew some things but not much. The focus was discussion of Dor Yeshorim, and open testing was barely mentioned. Having had some experience planning and running genetic screening events at YU, I will now attempt to give my non-professional break-down of the issues involved and why this is such an important part of the overall shidduchim process.

I also highly recommend listening to this lecture/shiur that just took place at YU which features a presentation by a licensed genetic counselor followed by Rav Willig speaking about the moral/halachic imperative to get tested before marriage.

Why is genetic screening significant? Children are produced within marriage by a fusion of a pair of genes, one side from their mother and one from their father. Every ethnic group has some sort of genetic mutation in their group’s overall DNA spectrum that features certain genes that don’t work and thus can cause problems. Generally, genetic testing deals with recessive disorders, which means that you need a copy of the defected gene from both parents to display the symptoms of the disease (as opposed to a dominant disorder, wherein one copy of the gene will make child affected by the disease). Someone who only has one of these mutated genes along with a healthy copy of that gene (one from each parent) is called a carrier – meaning that they are unaffected by the disease/syndrome coded for in that aberrant gene.

Percentage wise, for two parents that are carriers of the same disease, 50% of their children will be carriers (but unaffected), 25% will be totally free of the affected gene, and 25% will be born with the disease. So basically, with a couple wherein both the husband and wife are carriers for a particular disease, they run the risk of a combination of their egg and sperm that will produce a child that suffers from a potentially or actually fatal genetic disease. Back in the day, before we had advanced our level of scientific study to the point where it stands now, the children that result from a marital union were really the luck of the draw. As such, there were unfortunate couples that had a number of children who died (often early in life) due to the manifestations of these diseases.

Clearly, this is an extremely serious matter (listen to the shiur for the full halachic perspective from Rav Willig).

At present time, we now have the technology and scientific knowhow to check the genetic code of a particular individual and identify whether or not they “carry” genetic coding for these recessive genetic diseases (such as Tay-Sachs or Gaucher’s). As such, young men and women can be equipped (and I’ll explain the two different means of testing in a moment) to avoid heartbreak and personal tragedy by not dating and marrying a spouse who would (if they married) greatly increase the statistic likelihood of having children that suffer and die from these diseases.

Now for the two means of testing: closed testing (Dor Yeshorim) and open testing (like NYU or a number of other institutions).

Most people are aware of the history that led to the creation and perpetuation of Dor Yeshorim, so I won’t attempt to retell that here. Dor Yeshorim utilizes closed testing, which means that they collect 4-5 vials of blood from a young man or woman looking to date for marriage and perform a genetic characterization of their DNA.

The donor is assigned a serial number, which they must record for perpetuity (or at least until they get married) – and this is all they ever know. Dor Yeshorim does not assign a name to their file, nor do they ever release the results of their DNA characterization to anyone (potential shidduch and the actual person as well). You will never know what, if anything at all, you may have within your genes (see this article for why this has been seen as controversial). The stated reasoning behind this is to prevent any possible social stigmas (IE it’s “Bad For Shidduchim”), or personal neuroses stemming from the knowledge that you’re a carrier.

At some point in the dating process, the guy and girl exchange numbers, call up Dor Yeshorim, type in their numbers (both people have to do this, or Dor Yeshorim thinks someone is just being nosy – I made this mistake once early on, thinking that I would be trusted to tell the girl – they ended up calling the number she had registered with, which was her home number, and her mother answered the phone, unaware that she was dating!). They check their database and call back within the day (usually an hour or so later) to tell you to go ahead with the shidduch, which means there are no genetic incompatibilities, or that there is a problem. In that case, they tell you what it is since some potential conditions can, indeed, be worked with using modern medical technology such as In Vitro Fertilization (IVH) along with Pre-Implantation Diagnosis (PGD) – but at great financial cost and emotional turmoil (just ask any couple you know who is, rachmana latzlan, experiencing fertility issues).

Open testing, as done by NYU and a few other genetic testing organizations also requires obtaining several vials of blood, and similar tests are performed to characterize potential genes for potential genetic diseases. However, this method if often more comprehensive than Dor Yeshorim, which only checks for a select list (9 or 11 I think) of genetic, recessive (as opposed to dominant), fatal diseases. In a few weeks you receive a full print out of your results, telling you what you are a carrier for (if anything at all).

In the process of open testing, it is up to you to match notes with your shidduch to see if there are any incompatibilities. While some may be bothered by knowing what they have in their genes, it really isn’t a big deal at all, and literally has no affect on your life other than making sure that you don’t meet/date people with whom you would potentially have children affected by a fatal disease. A friend of mine asked Rav Tendler asked him what he should do in choosing Dor Yeshorim or NYU, and Rav Tendler replied, “Aren’t you a big boy now, can’t you handle knowing about your genes?”

Truthfully, the Dor Yeshorim system really is designed for communities that are not well-versed in secular knowledge (like sciences such as biology) and thus don’t understand that being a carrier isn’t a big deal. In very finicky shidduch systems, like in the more right-winged or Chassidic communities, where people do freak out over every little thing, this can be an issue that is troublesome for carriers. Whatever some more “modern” people might say about this, the fact is that incidences of Tay-Sachs have been virtually eliminated from these communities for a number of years now.

Dor Yeshorim has basically become a standard of sorts, since the vast majority of Orthodox girls get tested through them by their senior year of high school, or while in Israel. Thus, for guys who don’t get tested so early (which is seemingly stemming from a teshuva in Igros Moshe which recommended specific ages for young men and women to get tested – back in the day when open testing for Tay-Sachs was all that was available – listen to Rav Willig for more info). Thus is makes sense for a lot of people to do Dor Yeshorim just to be able to match up their status with girls they’re going out, since 99.9% of them (which is a guesstimation on my part) of the girls they are set up with have already done Dor Yeshorim.

However, Dor Yeshorim a policy that they will not test someone who has already had open testing, since they are philosophically opposed to the idea of open testing. Rav Willig has poskined that if one wishes to do both, he/she should do Dor Yeshorim first (thus preventing any genaivas da’as when they ask you to sign the form stating you’ve not been tested openly beforehand), and then do NYU afterward. That’s what I did – so I use Dor Yeshorim when I need to check my status with a girl I’ve been going out with but I also know exactly what my status is.

Rav Goldvicht recommends within the YU community that the guy and girl should check with Dor Yeshorim after the 4th or 5th date where the relationship seems to progressing towards more serious territory, but not so serious that breaking up, if need be, would be such a big deal. He says that in America it has become a big “thing” to compare Dor Yeshorim much later, as a precursor to engagement, which is generally a bad idea – what if you think you’ve found the love of your life and suddenly you are confronted with the reality that you may not be able to properly have children in the normal way?

Rav Willig strongly recommends that if this happens to people they should end the relationship, regardless of attachment. There are plenty of other people to get married to, why put yourself in a potentially tragic situation of G-d forbid losing children, never having natural conception, and going through the emotionally draining (and financially costly) process of IVF and PGD – or even living with playing “Russian roulette” and the possibility of terminating a pregnancy? The halachic difficulties, not to mention that the psychological traumas involved in these situations are not easily dealt with.

Genetic screening is not 100% accurate, but the vast majority of tests (for the most common and major genetic recessive diseases) have a predictive success rate of 95% or higher. While not perfect (since the labs are not going through your entire genome), it’s much better than flying blind. Major poskim across the hashkafic spectrum strongly advise, or require their constituents to take advantage of genetic testing (in whichever variety they recommend).

So if you have been tested, great! If you’ve only done Dor Yeshorim, perhaps consider getting tested through NYU as well (they have a number of opportunities to get open tested at no cost to you, and insurance usually covers all, if not most of the cost – and NYU will pick up the rest of the tab, if need be). EVERYONE should do open testing once they’ve gotten engaged (having previously found out their proper compatibility with Dor Yeshorim) – the reasoning being that if you and your wife know exactly what you carry (and at best you might not carry anything at all) you will have a heads up regarding your children. If you both find out you’re clean of such genetic mutations, then your kids will never have to worry about getting tested (Rav Willig and his wife did/do this – “do,” because every few years a new test for a different disorder is finally released for use by labs, so it’s worth it to expand your knowledge base).

This is the end of my very unprofessional run-down of genetic screening for marriage. PLEASE take time to listen to this lecture/shiur to get the full picture of the process from both the scientific and halachic perspectives.


  1. Very comprehensive post.

    I fail to see why calling Dor Yeshorim is not universally accepted to check for compatibility before the first date. It takes mere minutes and it can prevent a lot of heartache. Don't tell me that after four dates there isn't a LOT of emotional investment already.

    Not all Rabbonim agree with Rav Goldwicht's stance. Many say prior to any dating. What is the "con" here? (Don't say too much trouble. It's nothing!)

  2. Rav Goldvicht expressed that particular view with the YU community in mind, where checking DY numbers is still viewed as a "thing." He said that the Chassidim and Israelis (he didn't say which group, so perhaps he meant all of them) had the right approach in checking out DY numbers before a date ever happens. Rav Willig (in the linked shiur) said that this would be a good approach as well, despite that fact that it isn't done as a regular practice in the YU world.

  3. The characterization of one being "open" and one being "closed" is a use of words to make one sound negative. While you adequately explain the nuts an bolts, the difference is not open and closed -- the difference is that one is a random free for all testing (taking the chances on the reliability of the testing lab)and the other a program with 26 years experience, honing its program and reliability.

    You say the random testing is more comprehensive than Dor Yeshorim. Simple fact - it's not. Dor Yeshorim tests for every recessive genetic disease affecting the Ashkenazi Jewish community. Also, it is Dor Yeshorim that is doing research and identifying mutations for testing. Dor Yeshorim identified Canavan disease and Familial Dysautanomia. I also just read that they identified the Joubert Syndrome mutation. Since Dor Yeshorim has taken the responsibility on themselves to protect their participants, don't shouldn't we have more confidence that they are testing for everything necessary and that they are more reliable than a lab that makes many disclaimers? Who do you think will make sure that they cover ALL mutations for the diseases?

    Next, please don't make the Frum world out to be a bunch of backwards neanderthals. Dor Yeshorim was not meant for people who don't understand the non-affect of being a carrier. It was created to avoid creating two klals (carriers and non-carriers), avoid stigma (stigma attaches even with modern knowledge), and to avoid negative psychological impact. Even though Rabbi Tendler may think everyone should be "big boys and girls" about their genes, studies show that many are negatively affected knowing that they are carriers. It's a fact, and telling someone they should be a big boy or girl won't change that. So why even chance the impact if you don't have to?

    Why does anyone need to know their carrier status? Does knowing make you a big boy or girl? Carrier status is only relevant for your children's future. That being the case, what is the best way for people to avoid getting into marriages that will produce tragedy? If you know you are a carrier, when will you tell your date? Who brings it up first and shows they are interested in commitment? Next question: if you know you are not a carrier for anything tested, maybe you don't want to marry a carrier. Though your children won't get a disease - you can have the option of making sure your children won't even be carriers! But, what about your date, who is a carrier of ??? She or he may have to look for someone who is a carrier of a different disease. Now we have someone passing on two recessive diseases to their offspring and, of course, one couple very happy their kids won't even be carriers - see the split in the klal?

    Last point - your (and Rabbi Willig's) advice to join the Dor Yeshorim program first, then privately test violates the agreement made upon joining. You not only agree that you didn't previously test, but you agree that YOU WILL NOT PRIVATELY TEST IN THE FUTURE. If you join Dor Yeshorim knowing you will be violating this agreement, it would surely be genaivas da’as. I will assume you and Rabbi Willig didn't know and I hope you and Rabbi Willig reconsider the advice and make a retraction.

    I could go on, but basically, we are playing with fire here. As you said, Dor Yeshorim has worked to practically wipe out the occurrences of the diseases they screen for in the Ashkenazi community around the world. This is the only successful program like this in history. The words you write on the subject may lead some down a path away from that which works and to tragedy. I implore you to think more deeply about the subject - the stakes are so very high.

  4. differentview - SoG is totally on the mark and Open and Closed are indeed the correct terms. NYU is open in that you find out the results, they are open to you. With Dor Yeshorim you do not, and indeed cannot. They are closed to you. I don't see how either of these sounds negative or positive. They simply reflect reality. I also don't understand how you can call NYU "random free for all testing" when they specifically test for diseases common among Ashkenazi Jews and indeed include more tests than Dor Yeshorim does, at least for now. It is silly to say that one is more effective when both are equally committed to preventing the autosomal recessive genetic diseases common among Jews.

    You claim that Dor Yeshorim was not created for people who don't understand the non-effect of being a carrier but then go on to say that one of the reasons it was created was to avoid stigma. This doesn't make sense as it could only possibly cause stigma among people who don't understand what it means to be a carrier! I would argue the same of psychological impact. If one truly understood that being a carrier was in and of itself meaningless, why would these things be of any concern at all?

    Regarding what you say about Dor Yeshorim making you agree not to test privately in the future, if this is true, it is a new policy. When I read their statement two years ago it certainly did not mention anything about the future.

    Your post seems to claim that Dor Yeshorim works better than open testing in eradicating genetic diseases. This is simply untrue. The two accomplish exactly the same goal.

    Finally, I suggest reading what Rabbi J. David Bleich has to say about this issue (beginning on page 105):

    I think he has the most rational approach (though some will disagree).

  5. differentview613 - I will respectfully disagree with (most) everything you wrote, particularly since you misread a number of things I wrote.

    First, I will concede that "open" and "closed" testing can be taken for negative terminology. A better wording would have been "revealed" and "confidential." Second, my views do reflect that of someone in the YU world, so I won't claim to be beyond any bias - though I have no beef or prejudice against the the more right wing community.

    You assertion that "open" testing is "random" - which I NEVER wrote, as well as your statement that "the difference is that one is a random free for all testing (taking the chances on the reliability of the testing lab)and the other a program with 26 years experience, honing its program and reliability." is, to put it mildly, ABSURD. NYU is an extremely well known, trustworthy, and experienced institution that has far more credibility that Dor Yeshorim in the larger world out there. The
    Dor Yeshorim, as I mentioned has also been charged with unethical practice - I mistakenly left out the link, but have added it in - see here: - it's pretty shady not to tell people they HAVE Gaucher's simply because it can be treated.

    I also did not discredit the work that Dor Yeshorim does, and only had slight (justified) criticism for their policies.

    Dor Yeshorim also only tests for the major, most common types of diseases affecting the Ashkenazic (and to a smaller extent Sephardic) community. NYU tests for all of those PLUS others that are common among the general world population (not just Ashkenazic Jews - but could easily affect them), which amounts to 6-8 more tests. So why not get greater coverage in testing?

    I in no way insinuated that people in "the Frum world" are "a bunch of backwards neanderthals." If anything, your remark quite clearly indicates you think people of the more centrist Orthodox hashkafic variety aren't "frum" or religious at all. I said "right wing" or "Chassidic" communities - which are politically correct terms that carry no offense.

    Your whole two "klals" approach is exactly the point. Being a carrier of a genetic recessive disorder means should NOT cause any stigma whatsoever. All it means is that you need to be selective with who you go out with - and it is a far more reasonable justification for filtering shidduch candidates than some of the shtus that is out there that plagues ALL parts of the Orthodox community.

    The idea of not dating somone because she is a carrier for disease X and I'm a carrier for disease Y is WRONG. Our potential kids will be absolutely healthy with regard to the possibility of having these diseases. Stigmas against carriers is utterly baseless and is complete nonsense - we need to work to remove these unreasonable "pgams" against normal, healthy Jews. People are scared of what they don't understand - hence the stigma. If you don't want to know, or feel you might be psychologically harmed - that's why Dor Yeshorim exists for you. Be blissfully ignorant, you'll still have healthy kids anyway. Other people will prefer to know, because knowledge is power. Simply put the diseases you carry on your shidduch resume/profile and the shadchan won't set you up with anyone who also carries that disease - end of story, no tears shed, no additional problems with the "shidduch crisis!"

  6. I agree with JJay - I helped run the Dor Yeshorim testing at YU a few years ago, and I can personally tell you that this policy that makes the people who get tested affirm that they will never get open tested is NEW - and is a bunch of garbage. Rav Willig's psak reflects the old policy. DY has a right to say they won't test someone who has already been open tested, but who are they to tell me I can't find out what my status is once I'm already matched up and engaged or married?

    Standard medical practice in every hospital across the country is to fully test both parents when a woman is pregnant - for the safety of the baby. DY does not cover all the bases. What if it turns out a man and his wife are carriers of Bloom's Disease or Maple Syrup Urine Disease (lo aleinu)? If they tested with Dor Yeshorim - they'd never now and their child might be born and chas v'shalom die from such a disease. It is absolutely unethical to force anyone to never get open tested! When the YU Roshei Yeshiva heard about this new policy, they were up in arms about it, and rightly so!

    I totally agree that the "stakes are so very high" with regard to this area of halacha, healthy and morality. But nothing I wrote would "lead some down a path away from that which works and to tragedy." I have thought "deeply about the subject."

    Reread what I wrote - I presented a very balanced perspective that may slightly favor NYU, but I do not disparage Dor Yeshorim. If you are uncomfortable knowing your status while dating, fine - do Dor Yeshorim. Once you're engaged and married, do open testing - for the health of your future children.

    As a side point, the NYU testing is FREE, while the Dor Yeshorim test will cost money. Most insurance providers will cover the cost of genetic screening (as in when someone's wife is pregnant) but there are no guarantees that ever test will be covered. So why not do NYU now, know your status, and then not worry about it later when your wife is already pregnant and risk a potential affected child or abortion?

  7. I'll go through some points at random.

    You cite the JewishWeek article and say the act "shady". Rather than make this a post about that article, I'll give you some information I'm sure you don't have. 1. The writer and publisher is close personal friends with the accusing doctor, 2. the article does not disclose the financial relationship the accusing doctor has with the company that treats Gaucher, 3. the accusing doctor, to my understanding, was summarily fired from Chai Lifelines (you may want to ask them why), and 4. two very prominent doctors from major hospitals refuted his accusations, and I understand that they are not in any way connected with Dor Yeshorim.

    To JJAY, who is Rabbi J. David Bleich? Nice book, but where is his program that has saved Jews from the tragedy of these diseases? Where is his cite of another program that worked with giving over carrier information? Anyone can SAY anything, it's the doing that makes the difference and provides the proof. After 26 years Dor Yeshorim has PROVED itself to be the ONLY program EVER to stop the occurrence of recessive diseases in a community. Where is his PROOF that the "accomplish exactly the same goal"?? His opinion doesn't stand up to actual results.

    The reason I say "random" is that while you may want to suggest people use NYU (I admit is reputable), there are observant Jews, of every affiliation around the world that will choose to use the lab of their choice. It is my understanding that Dor Yeshorim will not use many labs because they are constantly using controls in all their test and many labs make many mistakes. For the Jews who don't follow your advice on which lab the process becomes random and dangerous because reliability is not constant between labs.

    With regard to future testing, I was not clear. Dor Yeshorim does not bind someone to NEVER test outside, only while you are a participant in the program. That means, from the beginning when you sign up and give blood, through the last time you call for compatibility. They are a premarital screening program, they don't care if you test after you're married. But, if you know your carrier status and check compatibility against someone who does not, you may be revealing the other person's information (by knowing your status) when that person doesn't want you to know. That is a violation of the rights of the person who wants confidentiality. I checked, their policy did not change.

  8. The Bottom Line.

    The Dor Yeshorim works - period. The rest is just talk and opinion.

    OK,so you WANT to know your carrier status. So you think you have the right to know. At what price?

    A mashal. If someone finally invents a mouse trap that works perfectly. Rids every home that uses it of all mice, all the time. Now you come along and say, "I don't like that mouse trap because I should be allowed to chase the mice - it's my right!" If I were the inventor of the trap that works, I would be shocked to see you sitting up at night, with your consultant (the genetic counselor) at your side, waiting to catch the mice your way, while you can use my perfect trap that has proven itself for decades.

    It's not about my wanting to know or not wanting to know my carrier status. It's about results - preventing tragedy.

    The Dor Yeshorim program WORKS because of the wide acceptance and use. You may have complaints about its ways of operation and its rules. You may not think that Dor Yeshorim "covers all the bases" (don't be so sure)and you know better and want to protect the klal from other diseases. You may THINK there is a better way.

    The price of being wrong is to high. One birth of a child with a disease that would have been avoided by using Dor Yeshorim is one too many. While you're out there busy educating everyone on genetics (have you or YU set up a program that will educate the klal around the world?) and creating a "program" of everyone for themselves (of course with the required genetic counseling when you get the results), Dor Yeshorim will continue to be out there preventing tragedy for those who use the program.

  9. R' J. David Bleich is a Rosh Kollel and Rosh Yeshiva at YU and a huge talmid chacham. The fact that you have not addressed any of the issues he raises leads me to believe that you have not read what he has to say.

    I am at a loss as to why you assume that the burden of proof is on open testing programs. No one I have ever spoken to has claimed that either DY or open testing is more effective than the other and to do so would be foolish. If you want anyone to believe that DY is more effective, you need to provide proof, not the other way around!

    I'm think we're just going to keep running around in circles, so I'm pretty sure I'm done here.

  10. I admit to not knowing the sum total of the background details of the controversy regarding not telling people with Gaucher's that they have the disease. Regardless of if there was an agenda involved - the point is still very valid. Why should anyone suffer from Gaucher's for an undetermined amount of time until they are properly diagnosed and treated just because Dor Yeshorim decided not to tell them, wherein they could be treated immediately and NEVER suffer from symptoms?

    The policy regarding not allowing any potential future open testing IS new, I know this for a fact based on working with Dor Yeshorim administration in scheduling screening at YU. I may very well be mistaken about the actual wording referring to allowing for testing after engagement/marriage, but the idea is still ridiculous.

    I concur with JJay - I don't think either side is going to convince the other. I have not yet disparaged Dor Yeshorim as being bad, and NYU's testing is just as good, if not better. They certainly are more thorough in covering a larger number of genetic recessive diseases. There is NOTHING wrong with choosing NYU over Dor Yeshorim, which you blatantly suggest.

    Your perspective is extremely narrow, put bluntly. Dor Yeshorim has become the gold standard of pre-marital testing in the Charedi/Yeshivish/Chassic worlds, as well as being very prevalent in other Orthodox circles as well. That does not make them the best, but rather the most used based on marketing, support from schools, etc.

    Dor Yeshorim exists for a specific target audience: the right wing Orthodox world. It was designed to appeal to people who (as an unfortunate matter of fact) do not have the education to fully understand the innocuous meaning of being a carrier and what genetic recessive diseases are.

    For the greater frum world, Dor Yeshorim is a convenience. A vast majority of girls get tested at the end of high school or during their year in Israel, so it MAKES SENSE for guys to do Dor Yeshorim to easily check their statuses. If the guy does NYU first, he's stuck because now the girl would have to do open testing as well.

    This is another reason why Dor Yeshorim's anti-post-Dor-Yeshorim-test is problematic. Should I risk the possibility of marrying a wonderful girl who could create potential problems for future children?

    Lastly, a point Rav Tendler makes here:

    "Thus while keeping the specifics of people’s genetic status private, Dor Yeshorim’s approach does not eliminate the potential for stigma. “When a match is proposed and nothing happens,” says Rabbi Tendler, “people naturally ask, why didn’t this happen? They submitted to Dor Yeshorim and then decided not to get married. This reveals immediately to their entire Jewish community that there are two people who are blemished.”"

    So the stigma thing is a "problem" no matter how you look at it. Better to educate the klal regarding how being a carrier is NOT A BIG DEAL, than to give people a false sense of security that they aren't carriers - because everyone carries SOMETHING (whether one of the genetic mutations Dor Yeshorim tests for, one of the expanded tests that NYU does, or some mutation that is not yet able to be tested for). Does that bother you? NO ONE is completely free of potentially having a child that could suffer from a genetic disorder. As Rabbi Bleich writes, it is best to educate people and prevent further stigma, thus reducing the shtusim that have become so prevalent in evaluatiing potential marriage candidates.


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