Jewish Genetic Diseases

Jewish Genetic Disease Screening …by Lauren Gross, Kaiserman Jewish Genetic Disease Screening Program

Brides- and grooms-to-be: here’s one wedding gift that will provide you with the most precious thing of all: a healthy family. Engaged and newly married couples (up to one year before/after the wedding) receive FREE Jewish genetic disease screening from the Victor Center at Einstein. While most Jews have heard of Tay-Sachs disease, many are unaware that there are other genetic diseases that occur at a higher rate in people of Ashkenazi Jewish descent. The other diseases that may be included in the Ashkenazi Jewish panel (group of diseases) are Canavan disease, Niemann-Pick disease, Gaucher disease, Bloom syndrome, Fanconi anemia, Familial Dysautonomia, Mucolipidosis IV, and Glycogen Storage Disorder Type 1a. In addition, as Caucasians, Ashkenazi Jewish individuals are at risk to be carriers of Cystic fibrosis. The carrier rates for the individual diseases in the Ashkenazi Jewish community range from one in fourteen to one in 140, but when looking at the whole panel, there is a one in four chance that an Ashkenazi Jewish person is a carrier of one or more of these diseases. Gaucher disease is the only one of these diseases for which there is treatment. The others range in severity, from those that cause varying levels of physical and mental handicap, to those that cause death in early childhood.

How are these diseases inherited? In the nucleus of every cell in the body there are 46 chromosomes. Each chromosome is a package that holds many genes. Our genes contain DNA, the set of instructions that makes up who we are. All chromosomes (and the genes that are on those chromosomes) come in pairs. We receive one member of each pair of chromosomes from our mother and the other member of the pair from our father. Sometimes there is a change in a gene (called a mutation) that causes the gene to malfunction. All of the above-mentioned conditions are inherited in an autosomal recessive manner. This means that an affected person has a change in both genes of the pair of genes, one change inherited from each parent. Neither gene in the pair is working properly, which causes the symptoms of the disease. A carrier is someone who has a change in only one gene of the pair of genes. Carriers are healthy individuals who are only at risk for passing the gene change on to their children. Most often these diseases occur in families with no prior history of the disease.

What if we’re both carriers? A person who is a carrier of one of these diseases is only at risk to have an affected child if the person’s partner is also a carrier of the same disease, in which case the couple has a 25% chance, with each pregnancy, of having an affected child. Until very recently, options for these couples were limited to adoption, using donor eggs or sperm, prenatal testing, or not having children together. A recently developed process called Preimplantation Genetic Diagnosis, or PGD, can now be used in conjunction with In-Vitro Fertilization to give couples the ability to determine which embryos are healthy before they are implanted in the woman’s womb. PGD has only become widely available within the last year or two, and its development is significant because, for the first time, carrier-carrier couples have the opportunity to have healthy children who are genetically their own without having to face the decision of whether or not to terminate an affected pregnancy.

The success of the first wave of Tay-Sachs screening in the 1970’s has lowered the number of births of children with Tay-Sachs disease significantly, leading to the false idea that the disease no longer exists. However, carriers are healthy individuals who simply carry a gene mutation that can be passed on to their children. The disease may not occur often anymore, but the gene remains present and, without screening, a new generation of Tay-Sachs babies will be born.

For individuals who desire testing in the Philadelphia area, the Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center provides carrier screening for this group of diseases. The Kaiserman Ashkenazi Jewish Genetic Disease Screening program ensures that this screening is accessible to everyone: screening for seven diseases is offered free to students and to engaged and newlywed couples, and is often covered by insurance for people who do not fall into those categories. Genetic counselors are available for consultations before and after screening, and the Center provides information, resource materials, and referrals to callers from throughout the country. In addition to their outreach efforts in the local community, the Victor Center’s staff has also worked to put Jewish genetic disease screening on the national agenda, both in the Jewish community and in the medical community. At the recent 54th annual meeting of the American Society of Human Genetics, Adele Schneider, MD, FACMG, Einstein’s Director of Clinical Genetics, presented a poster and a peer-reviewed abstract about the success of the Jewish genetic disease screening program. Schneider and her team have also worked with Jewish communities in Omaha and other cities to establish similar programs. While each individual must make their own personal decision on screening, the Jewish community must come together to raise awareness of this issue.

For more information or to set up an appointment, call Einstein’s Jewish genetic disease screening program at (215) 456-8722.