Dor yeshorim and the Non-disclosure policy

I am so sorry that it took me so long to post again, life is just catching up with me, but I will really try to keep up the pace of at least two posts each week.  We ended last post with a discussion of genetic counselling, and I want to really start getting into the main purpose of this discussion.  I described to you last time the basics of modern genetic counseling, and now I would like to discuss the common and popular approaches of the orthodox community towards this important issue at the current time.

I could summarize the way this issue is dealt with by the orthodox community by dividing it into in three distinct approaches.

1. The first approach is to ignore the topic altogether.  In rare cases, this is a deliberate decision on the part of the parties involved, and sometimes even involves religious justifications, such as the claim that they are "having simple faith" in God.  However, usually it is simply out of sheer ignorance, misplaced fear, or lack of education.  Clearly this approach is extremely dangerous and can lead to unnecessary suffering and terrible consequences.
2. The second approach is the Dor Yesharim approach, which will be described in detail later in today's discussion
3. The third is an educated and thorough discussion with a qualified physician or genetic counselor as we described in the last post.

Since we described the third approach last time, I will paste here a description of the Dor Yesharim approach so that everyone can familiarize themselves with it.  I will freely admit that I cut and pasted this from wikipedia and other online sources, but it is a pretty reasonable and unbiased description of the program, and enough to get the idea of how it works.  The Dor Yesharim approach has had major success in the "Chareidi" world, and has become the primary exposure for most people in that population to genetic testing.  It has received endorsements from major "Gedolim" and has been quite successful.
 
Dor Yesharim is an organization founded to prevent recessive genetic diseases. It is based out of New York and was founded by in the early 1980's by Rabbi Josef Ekstein, who had four of his own children die of Tay-Sachs disease. It is endorsed by many physicians and several major Torah authorities, and is the most commonly used genetic screening program for Jewish diseases in the yeshivish world. (Indeed, it is not uncommon for Orthodox Jewish day schools to sponsor screenings for all their high school students). As of September 2006, over 800 incompatible matches had been prevented.
 
The Dor Yesharim screening program is most effective with those of entirely Ashkenazic descent. Anyone with even a small heritage other than Ashkenanic descent (even one grandparent), may experience reduced reliability. (This may be of special concern to those with Sephardim or Geirim (Converts) in their background). This general background information is noted at the time of testing, to assist interpreting the results.

The program itself is designed to protect the privacy of the individuals involved, and and avoid the risk of stigmatizing a young single or their family members.

An article about Dor Yesharim was published in the June 2006 issue of the Where • What • When magazine, entitled "An Avoidable Tragedy".

Here's how it works, in a nutshell:

Singles have blood taken and their samples labelled with an anonymous identification number, and a control number. These are sent to special labs in New York where they are tested and catalogued. In addition, a contact telephone number is sent along with the sample, and results will only be given via return call to the phone number submitted with the samples, at the time of testing. The singles are normally given a booklet when they are tested, with their identification and control number stickers affixed, as well as, other information about Dor Yeshorim included. The booklet also contains a place to record information, in case the booklet is lost. All results are identified anonymously by number, not by name. The results are kept confidential and will not be released to any individual, not even to the persons themselves. The only information typically released is the response regarding a particular shidduch's genetic compatibility: compatible or incompatible.

However, if a couple is found to be incompatible, and if they request this information, the couple will be informed of the disease for which they are incompatible, the symptoms, and the specific risks they face.
If an individual has a family history of a genetic disease, even a "non-Jewish" one, Dor Yeshorim recommends that they be informed of this, as well (for example, they might run additional tests, if aware of this risk). They can provide confidential counseling, referral, and support services to families afflicted with genetic disease.
Before a shidduch begins (or as early as possible), one or the other parties in the shidduch contacts Dor Yeshorim, and using both each person's anonymous identification number and the birth date of each person, to check if the individuals together are genetically compatible (as noted above). The only information normally revealed is whether the specific couple are incompatible genetically with each other. However, if the couple requests, they will be informed of the disease for which they are incompatible, the symptoms, and the specific risks they face.
There are several rules specific to to Dor Yeshorim:

• Individuals who are engaged, married, already tested, or otherwise aware of their carrier status are not eligible to participate in this program.
• Results will only be left with the phone number registered at the time of testing. If your phone number changes, Dor Yeshorim needs to be notified as soon as possible.
• If you lose your identification number, you will need be re-tested all over again. Since it is entirely anonymous, Dor Yeshorim cannot connect you with your test results, if you lose your identification number.

Currently, the Dor Yeshorim program generally tests for:

• Tay-Sachs Disease
• Cystic Fibrosis
• Canavan Disease (patent-pending)
• Fanconia Anemia
• Familial Dysautonomia (Riley-Day Syndrome)
• Glycogen Storage (Type 1a) / Von Gierke Disease
• Bloom's Syndrome
• Gaucher Disease (on demand only)
• Niemann-Pick Disease
• Mucolipidosis IV

In addition, Dor Yeshorim may also test for other genetic diseases and mutations of existing diseases in a research capacity, unofficially, and proports to be the most thorough program of testing with regards to Jewish genetic diseases.

Those who have already been tested through another screening program, or who are already married or engaged are not eligible for Dor Yeshorim's screening program.The costs and processing times vary by screening venue.For those tested at mass screenings (e.g. Jewish high school-hosted screenings), the cost per person is typically $150 per person, and results may take 3-4 months to process.

For those tested individually, the cost is $200, and results may take 2-3 weeks, from the time the sample is received in New York (so, realistically expect 4-6 weeks, if tested in the Mid-Atlantic area).
If tested in New York, should it be absolutely necessary, there is an emergency, expedited processing available.

In the next post we will talk in more detail about the philosophy of Dor Yesharim, and try to analyze their approach from a rationalist perspective.

Premarital or Preconceptional Genetic Counselling and Testing - a Brief Introduction

In my last post, I summarized the different categories of genetic testing that we will be dealing with in this thread.  As you can imagine, each category has numerous issues of its own and needs to be analyzed through our Rationalist Medical Halachic (RMH) lens separately. Those of you who are new to this blog should review the Five Principles which define the RMH approach. Though many of you might already be very familiar with this subject, it is important to introduce the basics for everyone now. This way, when we start the fun part in our next post, we will all understand the basic issues involved.

Let's start with the second category, which I called premarital or preconceptional testing. The goal of such testing is to determine the risk of a given person or couple for having offspring with a particular genetic disorder.  In theory, if someone can know what he/she is at risk for begetting a child with a particular problem, then he/she will have several choices. (Please try to keep this issue separate from prenatal testing, which refers to testing a fetus that has already been conceived.  We will take on that issue on its own later.)

Those choices will include any of the following:  They could choose not to marry (or if already married - not to get pregnant); they could choose to take the risk; they could choose to do some intervention to either decrease the risk of conceiving such a child or prevent it altogether; or they could choose to take the risk and then to abort the fetus if indeed it is found to have this disorder.

It should be obvious that the moral implications of each of the above choices are incredibly important, difficult, and complicated.  Every single one of the above choices leaves in its wake a potential minefield of ethical and Halachic conundrums.  Our purpose in this post is not to give guidance regarding the choices themselves once a problem is discovered, but rather I will focus on the counseling and testing itself.  How does one decide what type of testing is appropriate for him/herself and what is the rational Halachic way to proceed with this type of genetic testing.

The first question, to which I will not devote much time to at all, is the question of whether such testing should be done at all.  The argument against it would come from a religious perspective and sound something like: "Tamim Te'Hyeh Im Hashem Elokachah" that one should have simple faith in God and not try to mess with God's plans.  This perspective was already treated by R' Moshe Feinstein in Iggerot Moshe Even Ha'ezer 4:10 in a landmark teshuva regarding Tay Sachs testing.  The bottom line is that virtually every Halachic authority agrees with R' Moshe that a simple risk free test that can prevent suffering would be Halachically required of any person as part of his/her responsibility to protect his/her health and that of his/her offspring.  R' Moshe compares this is closing one's eyes from seeing the obvious, which is certainly not indicative of simple faith in God, but rather it is indicative of willful stupidity.

So now that we let that issue rest, let's discuss what genetic testing is like today, and then we will analyze how it is (or isn't!) done by Halachic Jews today. Then we can apply our rationalist lens to determine what the Halachic approach should be.

The field of genetic counseling has grown in the last few decades into a significant player among the various medical specialties.  As our knowledge has grown, available tests has grown, and available treatment choices have grown, this specialty has of course grown more and more important. The knowledge base today is so extensive, that ordinary family doctors can no longer possibly have all the knowledge necessary to appropriately counsel their patients in this area.  So we turn more and more often to trained genetic counselors, or physicians who concentrate specifically on this area.

The meeting with a genetic counselor is typically a long one, like 30-45 minutes, and by its nature it will include filling out a long questionnaire beforehand, and discussions about relevant topics.  The topics first investigated include (but are not limited to): an extensive family history of the potential father and potential mother; extensive personal medical histories; a review of any genetic tests that may have already been done on the potential parents; and a review of ethnic and racial backgrounds of the potential parents.  All of this information is processed by the counselor to determine the specific level of risk this couple may have to transmit various genetic disorders to their potential offspring.

It is extremely important to remember that EVERY person has around a 3% risk of transmitting genetic disorders to his/her children.  The problem is that there are thousands upon thousands of potential disorders, and the risk for transmitting any particular one of them in any given couple is so minuscule that testing for every one would be extremely inefficient, ineffective, and and just a really bad idea.  The trick is to identify the problems that each couple is at a significantly increased risk of transmitting, and then to discuss whether or not testing for that particular problem might be warranted.

Any given Jewish couple will have baseline risks for certain problems, simply because they are Jewish.  The fact that we are aware of genetic diseases common to Jews is a blessing of modern medicine and of our unique heritage.  The average non-Jew (at least in the US) doesn't know very well what he/she is at risk for, because the population is so heterogeneous and therefore impossible to track the risk factors unless they have a specific family history. But being a Jew generally means that you come from a specific genetic population that (at least until recently) has had relatively minimal mixing with the society around it.  This is a blessing because it allows us to target specific disease that are known to occur in our population.

The couple in question may then also identify family specific problems, and then they will be presented with some complicated decisions to make.  Primarily they will have to decide two things.  What should we test for?  What would we do with the results of these tests should they uncover something?

The answers to these questions will vary tremendously according to the circumstances and the personal preferences of the people involved.  They will take into account numerous factors including, but not limited to:

1. How high is our risk for carrying this disorder?
2. How high is the risk of transmission?
3. What are the risks and/or costs of the test?
4. What would be the consequences of transmitting this disorder to our child (how severe is the problem, are there treatments for it etc...)?
5. What options would be available to prevent having a baby with this problem (i.e. prenatal testing, abortion, Preimplantation diagnosis, and so on)
6. What options would Halachically be available to us?

As you can see, this process is very complicated and potentially very stressful, but also very very important.  Closing one's eyes to this information is similar to closing one's eyes when crossing the street.  In today's world, it is imperative for potential parents to go through this process.  Of course the decisions made will vary for every couple and every individual. But to ignore it completely is nothing less than willful stupidity.

Now that I gave you a summary of what genetic testing should be, in my next post I am going to discuss some of the programs that are in place today in the Halachic community, and use our rationalist lens to decide the merits and/or critical problems with some of these programs.

Genetic Testing - What is it and Let's get Started Again!

I sincerely apologize to everyone who has followed this blog in the past for my prolonged absence from the "blogosphere".  I attribute my absence to my busy life as a father, physician, and simply being an active participant in the community that I live in. So blogging had to take a back seat for a while. However, after much soul searching, i realized that this blog afforded me the opportunity to express my ideas to the people who could most benefit from them, but more importantly, the opportunity to get feedback from those very same people.

So here I am, ready to pick up where I left off a while back, the topic of genetic testing from a rationalist medical Halachic perspective.

Before I begin, let me say with a measure of both pride and humility, that the three topics (Time of death, treating gentiles on Shabbat, and abortion) I covered so far and my treatment of those subjects, has made significant waves in the Jewish community.  This blog has positively influenced the thinking of many leaders in the field, and I am proud of that achievement.  But there is so so much more work to do, and the list of issues we need to tackle grows daily.  

Please feel free to suggest topics, and as always, please feel free to speak your mind in the comments section, I really enjoy and learn from the feedback you give me.

Several weeks ago, a pamphlet published by YU landed in front of my seat in shul called, "To-Go" and the topic of this pamphlet was strengthening marriage and relationship-building.  Naturally I picked it up and perused through it, with my mind settling on an article by Dr Eddie Reichman about the Halachic "Mandate of Genetic Testing".  Naturally, any article by Dr. Reichman deserves my attention, so I read it carefully and enjoyed it, and will be referring to it as we progress through this blog topic.

But most importantly for me, this article gave me the "kick in the pants" that I needed to get back to blogging!

So here we go!

The term genetic testing conjures up all sorts of images in the popular imagination. It seems to me that any discussion of genetics stimulates more fear and trepidation than other types of medical testing, especially among Jews.  There are obvious historical reasons for this, but the purpose of this blog is not to delve into the history of the relationship between anti-semitism and genetics.  However, it is imperative for any Jew who believes that being informed about his/her health is part of the biblical mandate of "VeNishmartem Me'od L'Nafshoteikhem" to get him/herself educated about this incredibly important topic.

Just for a "heads up", I am going to be discussing various programs for genetic testing that are currently being used in the Orthodox Jewish community.  I hope to analyze through our "Rationalist" lens  some of the advantages and disadvantages of several of these approaches.

What does the term "genetic testing" mean?

The term genetic testing refers to any medical test that is meant to determine any part of the genetic makeup of any individual or future individual (such as an embryo).  It is thus a very broad term, and I first need to describe the basic areas in modern medicine in which genetic tests are used.  There are many different types of genetic testing that are used by physicians today.

1) Prenatal testing - This refers to testing of a fetus during the various stages of development during pregnancy.  The purpose is to diagnose any possible medical conditions that the fetus may be afflicted with, specifically medical conditions that are known to be genetically caused.

2) Premarital or preconception testing - This refers to testing that prospective parents might get in order to determine what types of genetic disorders they may be at risk of transmitting to their potential offspring, should they decide to have children together in the future.

3) Individual Testing - This refers to testing a person who is not currently afflicted with any known genetically caused disorder in order to determine his/her risk for developing a particular disease that is at least partially caused by a known genetic defect. The most common example of this is the BRCA gene which is known to significantly increase the risk of breast cancer in those people who carry the gene.  The purpose of such testing is to determine if interventions might be able to be done in select individuals that would reduce the risk of them ever contracting the disease.

4) Diagnositic testing - This is done in a person who is afflicted with an illness, and it is suspected that it may be due to a certain genetic disorder.  By checking off specific genes, this may help determine exactly what is causing the problem, which may help to properly treat the afflicted person.

5) Testing embryos, ova or sperm for eventual fertilization or  implantation - Such testing is usually done during the process of infertility treatment.  In such cases, embryos are tested before implanting them into the mother's uterus.  The purpose is to diagnose which embryos nay have certain desirable or undesirable characteristics which will help determine which embryos to implant and which to discard.

6) Forensic and paternity testing - This refers to testing of blood or materials for DNA with the purpose of determining the identity of the origin of the DNA. In the case of paternity testing it is to determine the father of a particular individual, in the case of forensic testing it is to determine the person from whom the material originated, usually for the purpose of criminal investigation.

With that behind us, let's move on to my next post, in which I will discuss some of the reasons why from a religious perspective, genetic testing is such an important part of taking care of our health.