Genetics…What You May Not Know

Are you aware that one in every four individuals of Ashkenazi Jewish descent is a carrier for a recessive genetic disease??? And that if two carriers for the same disease marry, they risk a one in four chance - in each pregnancy - of producing children afflicted with a fatal and debilitating disease?

For the past 23 years, the non-profit organization Dor Yeshorim – Committee for the Prevention of Jewish Genetic Diseases – has protected couples from the anguish of producing genetically diseased children that results from genetic incompatibility through their program of confidential premarital testing in high schools, seminaries, yeshivas, colleges, synagogues and affiliated laboratories all over the world.

History of Dor Yeshorim (DY)

DY was established in 1983, after its founder and Executive Director, Rabbi Josef Eckstein, suffered the devastating losses of four children to Tay-Sachs. He resolved to use his tragic experiences to help prevent other Jewish families from suffering the same heartbreak. Through sheer will, perseverance and Divine guidance, Dor Yeshorim steadily gained the respect and endorsement of the medical and genetics communities as well as rabbinical authorities and lay leaders in communities of many diverse backgrounds in the U.S. and abroad.

The Dor Yeshorim Mission

DY began its mission for prevention by testing for Tay-Sachs disease. Over the years, as new reliable tests have become available, they have been added to the DY testing panel. Today, Dor Yeshorim tests for ten recessive genetic diseases that include Tay-Sachs, Cystic Fibrosis, Familial Dysautonomia, Canavan Disease, Glycogen Storage Disease Type 1, Bloom Syndrome, Fanconi Anemia Type C, Niemann Pick, Mucolipdosis Type IV and Gaucher Disease (by request only). DY endeavors to provide the latest technology in testing in a manner that is tailored to the needs of the observant Jewish community and that does not accompany social stigma or psychological damage to individuals. The ultimate goal is that no parent suffers the loss of a child to a recessive genetic disease for which there is an available, reliable test. (DY is also directly involved with ongoing research for additional diseases such as Nemaline Myapathy, Usher Syndrome I and III, Hyperinsulinism, Maple Syrup Urine Disease and Non Syndromatic Hearing Deficiency).

The cornerstone of the DY program is its unique system of complete confidentiality, in order to protect individuals from the psychological burden of knowledge and of others knowing one’s carrier status. Therefore, the program operates with coded ID numbers instead of names - and carrier status is not divulged to individuals, except in the event that a potential match is genetically incompatible. When a prospective couple is found to be incompatible, both parties are informed of the genetic disease for which they are carriers and provided counseling to advise them of the risks involved should the couple choose to marry, and to assist them with integrating this disconcerting information.

How the DY Program Works

Participants take a simple blood test at a participating laboratory or testing site. At the time of testing, individuals fill out an information card and consent to include date of birth, gender, telephone number(s), ethnic origin (Ashkenazi, Sephardi, Convert, Non-Jewish origin), ancestors’ countries of origin and Social Security number (optional). Ethnic origin determines the type of testing needed. Participants are assigned a DY coded identification number.

When a marriage match is being contemplated, ID numbers are exchanged and a call is made to DY’s automated hotline for a compatibility check. The recommended time to check for compatibility is before the first date, in order to avoid emotional hardship resulting from breakup of an already established relationship in the event the match is genetically incompatible.

Parties are called back at telephone number(s) provided by participants at the time of testing (to ensure that results are given to the parties themselves only, for security and confidentiality purposes). Results are provided by a DY representative in the form of “Compatible” or “Incompatible”. When a couple is diagnosed as both being carriers for the same disease, they are informed of their carrier status for that disease and offered counseling.

A Word About Gaucher’s Disease (This test is done by request only)

Gaucher’s Disease, when detected, usually becomes apparent in childhood or early adulthood, when patients initially develop an enlarged spleen and/or hematological and orthopedic problems. The carrier rate for Gaucher’s is 1 out of 14 individuals of Askhenazi Jewish descent, significantly more frequent than the other fatal and debilitating diseases on the DY testing panel, however manifests significant symptoms in relatively few cases. Ceredase treatment (enzyme replacement) is available for some patients with a severe form of Gaucher’s but is not a cure. The cost of Ceredase treatment is in excess of $200,000 per year.

Patients with Gaucher’s Disease generally are asymptomatic or experience mild symptoms and many individuals in fact, live with the disease without ever knowing it. Even in the rare instance when the disease is manifested in a severe form, treatment is available and patients can lead normal and productive lives.

Testing the general population (and all DY participants) for Gaucher’s would serve only to create social stigma and discrimination to carriers and those affected, without the benefits that would come with a diagnosis, as asymptomatic or mild symptom patients are not candidates for treatment and report functioning similar to normal individuals who are not affected. For this reason, coupled with the likelihood of many more marriage matches being eliminated due to the high carrier rate, DY offers the Gaucher’s test upon request only.

Dor Yeshorim Today

DY operates with the support of a Board of Trustees and community leaders and is endorsed by prominent Rabbonim in the U.S., Israel and Europe. DY’s medical advisory board includes genetics experts and physicians from Columbia University, Albert Einstein College of Medicine, New York University Medical Center, National Hospital for Neurology in London, England and Hadassah University Hospital in Jerusalem, Israel.

DY has evolved as an important resource for families with concerns about genetic conditions that may be inherited or have reappeared in their families. DY is also a significant participant in medical research and investigative efforts by facilitating contact between afflicted families and researchers. Additionally, limited research protocols are being considered for other recessive, genetic diseases.

DY is funded through a variety of resources. Testing fees cover less than half of the actual cost to process blood samples for all of the diseases on the DY testing panel. Donations and sponsorships are always welcome.

Genetic screenings through DY are offered ONLY to unmarried and unengaged individuals who have not previously tested elsewhere. This protocol was implemented in order to avoid complicated situations that arise for already engaged or married couples who are presented with genetic incompatibility and to protect the confidentiality of all participants.

To find a participating testing site near you or to request a brochure, call Dor Yeshorim at (718) 384-6060.




NYU Langone Medical Center
Human Genetic Program
Have you been tested?

What is a genetic disease?

For most of the traits in our bodies, we have two copies of each gene, one inherited from the mother and one from the father. As the result of a change in the gene (mutation), it may not work in the proper way. Some diseases occur when a person has a change in only one gene. Other diseases (called "recessive") occur when both genes have changed.

What is a carrier?

A carrier is a person who has a change in one of the copies of a gene for a recessive disease. Because changes are required in both copies to produce the disease, the person remains well and unaware of his or her carrier status. However, when two carriers have a child, the child has a 25% chance (risk) of having the genetic disease. When a carrier has a child with a person who is not a carrier, the child is not at risk for the disease.

Why should I get screened?

Genetic screening is the process to identify changes in a person’s chromosomes, genes or proteins i.e. to find out whether a person is a carrier for a specific disease. Every ethnicity and racial group has certain inherited disorders that occur more frequently among them. Ashkenazi Jews have many such disorders, such as Tay-Sachs and Canavan diseases, which are fatal. Others are extremely devastating.

Every Ashkenazi Jews has a 1 in 4 chance of being a carrier for a genetic disease. With this knowledge people can avoid marrying someone who is a carrier for the same disease as them. By getting tested, you can ensure that your children will not suffer from these diseases.

For couples where both partners are carriers for the same diseases, they can take appropriate action such as prenatal testing and pre-implantation genetic diagnosis (PGD). They should speak with a knowledgeable genetics professional before taking action.

When should I get screened?

The time to get screened is now, before you anticipate needing the results. Know your carrier status so you can take measures to act accordingly. Remember, being a carrier means that you are completely healthy and are not at risk for developing the disease. In addition, if your partner is not a carrier or is a carrier for a different disease then your child is not at risk.

How can I get screened?

Please contact the NYU Human Genetics Program at 212-263-5746, and let them know that you are a currently a student. Our offices are located at 550 1st Ave, New York, NY 10016 (at 33rd street ). You can also consult your personal physician or another genetics center. Genetic screening is performed in most major hospitals and medical centers.

What does the actual screening entail?

You will first meet with a genetic counselor for 15 minutes to discuss your testing. Then a small blood sample is collected and is sent to a lab for testing.

What diseases am I getting screened for?

NYU Langone tests for: Bloom syndrome, Canavan disease, Tay-Sachs disease, cystic fibrosis, glycogen storage disease 1a, familial dysautonomia, familial hyperinsulinism, Fanconi anemia, Gaucher disease, Fragile X syndrome, Maple syrup urine disease, Niemann-Pick disease, & mucolipidosis IV.

***For more information about these diseases visit our website at

http://genetics.med.nyu.edu

Cost: Many insurance plans cover the full cost of testing. NYU Langone accepts the following insurance plans: Aetna/US Healthcare, Cigna, GHI, Empire BC/BS, Empire Plan, Healthnet, Local 1199, Multiplan, Oxford , and United Healthcare. Sign up at http://genetics.med.nyu.edu and list your specific insurance plan to determine if it is accepted by NYU Langone. If it is not, please contact us for more information.

How will I learn my test results?

The results of carrier testing are usually available two to three weeks from when the specimen was collected and if you are found to be a carrier, a genetic counselor will call you.

Confidentiality of test results

The test results are your confidential information. They will not be disclosed to others, (including your partner, your insurance carrier, or any other physician who was the physician who ordered the test) without your prior consent.

Religious or Ethical Concerns? Please consult your local religious authority.

More Information

If you have any questions about any of this information or would like to schedule an appointment, please feel free to contact us.

Human Genetics Program
NYU Langone Medical Center
550 First Avenue , Room MSB 136
New York, NY 10016
Phone: 212-263-5746
Fax: 212-263-7590