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.