Sunday, January 13, 2013

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.


  1. I'm not sure what the halachic implications might be, but wouldn't one other use of genetic testing be to determine that an individual has a metabolic peculiarity that might dictate the choice of, or avoidance of, certain medications (or dosages of medications) or foods in the future?

    Or, for that matter, phenotypic testing; to use a specific example of a category of testing that is likely to become more common, a caffeine test for CYP1A2 type? Not exactly genetic testing in the usual sense, but genetically based nonetheless.

    1. Yoel B. thank you for your comments. I totally agree that testing to aid in treatment choices should have been added as another category of genetic testing.