Premarital or Preconception Genetic Testing

Carrier Screening

Preconception genetic testing, or carrier screening, refers to genetic testing of potential parents to determine the likelihood that a child conceived by a given couple will have a genetic disorder. Carrier screening can be performed prior to marriage or prior to conception. It can also be performed at some point after childbirth to investigate why a baby was born with a particular condition.

There are numerous panels (lists of potential conditions) used in genetic testing. Some panels include a limited number of severe illnesses, and others include a wider range of genetic conditions, from mild to severe. Some panels are designed for couples from specific ethnic backgrounds (e.g., Ashkenazi Jews), among whom certain genetic conditions are more prevalent.

These panels test primarily for genetic disorders that can be passed on only if both parents are carriers (autosomal recessive). In such cases, each child conceived would have a 25% chance of being affected by the condition. Some panels also test for conditions that can affect a child if only one parent is a carrier. Someone concerned about passing on a specific known or suspected genetic mutation or condition in their own family should discuss this with their healthcare provider prior to testing.

Testing is usually done by blood test or cheek swab. Individuals and couples should speak with a genetic counselor or trained physician to understand and interpret any test results.

Timing

To minimize potential distress and allow couples to consider the widest possible range of options, it is generally preferable to learn about chances of having a child with inherited diseases prior to conceiving.

Couples often pursue testing together when they are seriously considering an engagement or have become engaged.

Carrier testing can also be performed for singles as they begin dating. It can then be used to determine whether both members of a prospective couple are carriers for the same genetic disorder, which could lead to severe illness in future offspring. In some Jewish communities, testing when single is standard, and based on results, couples may either not begin to date or, if they are already dating, not become engaged.

A couple who were not tested before marriage are encouraged to pursue testing when they are already married, before trying to conceive. Testing is halachically permitted at any stage, since it might lead to an intervention that would allow the birth in the future of unaffected, healthy children, or be beneficial to the health of a fetus. Some medical providers recommend that couples retest periodically, since the panels are continually updated as it becomes possible to test for more conditions.

Testing Options

There are several options for pursuing genetic testing. One can inquire through one’s insurance or health care system, or start by asking one’s doctor about options for testing.

Here is practical information for testing in Israel, in the United States, or through Dor Yesharim:

Israel

In Israel, genetic blood or saliva tests for a wide range of conditions (e.g., Tay Sachs) are covered directly by the National Health Insurance via the health funds (kupot cholim), with more tests recently added.

These tests are offered to couples, not individuals. They can be performed before marriage, and even before engagement if a couple is heading in that direction. There is also an option to perform an even wider spectrum of tests through private lab services, for a fee. More information is available here.

United States

Organizations that provide genetic screening and counseling for Jewish genetic diseases in the United States include:

JScreen (http://jscreen.org), across the US
The Victor Center for Jewish Genetic Diseases (http://www.victorcenter.org/), for some US states
Sarnoff Center for Jewish Genetics, for Illinois (https://www.jewishgenetics.org/)
The Minkoff Center for Jewish Genetics (http://jewishgeneticsphx.org/), for Arizona

In the United States, testing is often at least partially covered by health insurance, and can be ordered by a medical provider.

Dor Yesharim

A prominent testing organization serving singles is called Dor Yesharim, The Committee for Prevention of Jewish Genetic Diseases (http://doryeshorim.org/ worldwide, or http://www.doryes.com/ in Israel, which offers several different panels of tests depending on ethnic origin.

With Dor Yesharim, individuals are tested before beginning the search for a marriage partner, but are not told the results of the test. A couple considering marriage notifies Dor Yesharim and is informed whether or not they are both carriers for the same recessive genetic condition. The couple are not told what condition they are carriers for.

Some halachic authorities prefer this system because it addresses concerns regarding stigmatization of known carriers. It is also subsidized. However, Dor Yesharim will only test people prior to an official engagement, does not test for conditions that can be transmitted by only one parent, and does not give specific test results. Therefore, some halachic authorities and medical providers encourage couples to choose “open testing” through their healthcare system or privately, as described above.

Taharat HaMishpacha

Marriage

Life Stages

Fertility