For Medical Professionals
Medical professionals play a key role in helping patients make informed decisions about their care. The Norton & Elaine Sarnoff Center for Jewish Genetics works in partnership with physicians, nurses, genetic counselors, and other allied health professionals to educate individuals about
genetic disorders and hereditary cancers that are more common among Jewish individuals and in interfaith families.
Carrier Screening for
Jewish Genetic Disorders
All individuals of Jewish descent should be offered carrier screening as part of family planning.
Approximately 1 in 4 Jews carries a
genetic mutation for an autosomal recessive disorder that could
be passed down
to future offspring. At least 19 genetic disorders are more common among
Ashkenazi (Eastern European) Jews, with potentially serious or life-threatening
consequences for affected children. Sephardic (Mediterranean or Middle Eastern)
Jews are also at increased risk for several recessive disorders. Having just
one Jewish grandparent or great-grandparent is enough to increase a person’s
risk of carrying a Jewish genetic disorder.
The Center’s affordable, accessible carrier
screening program uses a panel that screens
for more than 260 recessive
conditions, including about 50 that are more
common among Ashkenazi Jews and Sephardic Jews. Our program's
expanded carrier screening panel includes an additional 21 X-linked conditions for women, as well as several pan-ethnic
conditions that are not unique to one ethnic group. This makes our carrier screening panel an appropriate
for individuals of Jewish descent, as well as non-Jewish partners.
Learn more about the conditions on the panel.
Individuals Get Screened?
Ideally, couples will receive screening prior to conception. Couples who know their carrier status prior to pregnancy have the most options when planning for a family. If both partners are found to carriers for the same conditions, options include:
- Natural conception – prenatal testing via chorionic villus sampling or amniocentesis is available
- Pre-implantation genetic diagnosis (PGD) prior to in vitro fertilization (IVF)
- Egg or sperm donation
Even patients who choose not to alter their family planning approach may benefit from knowledge that can help them prepare if a future child needs early intervention.
How Does the Center’s
Screening Process Work?
Most patients complete the Center’s carrier screening program from home in five simple steps:
1. Register for the program, and pay a small program fee
2. Complete our online education course
3. Register for the screening test and receive a saliva collection kit
4. Mail the saliva sample to our medical partner
5. Receive results from a genetic counselor in 2-3 weeks
If your patient is already pregnant, they will have the option of scheduling a blood draw rather than sending in a saliva sample. This can expedite the process by reducing the risk of sample failure. If timing is a concern, couples should consider simultaneous
screening. The results will come back faster than if just one partner is tested first. Pregnant patients should notify the Center when registering for the program so that our genetic counselor can discuss appropriate screening options with them. The Center’s genetic counselor will also discuss prenatal testing
options that are available during pregnancy if both partners are found to be carriers for the same condition.
1 in 40 Ashkenazi Jews carries a mutation in the BRCA1 or BRCA2 genes, which greatly increases the risks of breast and ovarian cancer, as well as other related cancers. Men with BRCA mutations have an increased risk for male breast cancer and prostate cancer. BRCA genes are
found in both men and women and can be passed down to sons or daughters from both mothers and fathers at equal rates.
Ashkenazi Jews also have higher rates of colon cancer than any other ethnic group. Approximately 10 percent of colorectal cancer is hereditary. Two known genetic syndromes account for a significant proportion of hereditary colorectal cancer: familial adenomatous polyposis (FAP) and Lynch
syndrome, also called hereditary non-polyposis colon cancer (HNPCC). The mutations associated with these syndromes are inherited in an autosomal dominant pattern, which means affected individuals have a 50% chance of passing on the gene mutation to the next generation.
Individuals found to have a mutation in a cancer predisposition gene have options for increased screening or prophylactic surgery in order to reduce their cancer risk.
The Sarnoff Center recommends genetic counseling for individuals with a strong history of breast, ovarian, colon or other cancers. A genetic counselor can assess an individual’s risk for hereditary cancer and provide guidance surrounding screening decisions.
At this time, the Center does not offer screening for cancer predisposition genes. However, our genetic counselor is available to speak with patients or family members, and to provide appropriate screening resources.
When to Refer for
Refer to a cancer risk genetics program when patient has personal or family history of:
- Two or more closely related individuals with breast cancer, diagnosed at any age
- Cancer diagnosed at young ages (before 50)
- Multiple cancer diagnoses in one individual (e.g. breast and ovarian, bilateral breast cancer)
- Individuals affected in multiple generations (e.g. grandfather, mother and aunt)
- Rare cancers such as ovarian cancer or male breast cancer
- Two or more family members with breast, ovarian, pancreatic, prostate, skin, uterine, colon or stomach cancers
- Ashkenazi Jewish ancestry
If you have questions or would like more information or help identifying resources, please contact the Center.