Significant advances in science enable us to no longer question what’s in our genes. This is especially important for Jews, who are far more likely to be carriers of certain genetic diseases than the general population.
Education and awareness about genetic screening have been spreading throughout the nation and the December 2012 launch of the Web site GeneTestNow.com aims to change this locally.
The site is an initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles, and it works closely with various nonprofits and medical groups, such as the Victor Center for the Prevention of Jewish Genetic Diseases and Jewish Genetic Disease Consortium (JGDC).
“My brother, Jerry Factor, and I are delighted that the Doris Factor Endowment Fund launched GeneTestNow.com,” said Sharon Glaser, daughter of Doris Factor. “This initiative will play a vital role in raising much-needed awareness among people both in the Jewish community and in the community at-large about the importance of undergoing testing to detect genetic diseases. Our mother, of blessed memory, would be very proud to know that such an important initiative is being designed in her name.”
The site does not provide testing, consultation or research; the focus is to ensure people are aware of their responsibility to get tested.
According to the Victor Center, one in four Ashkenazi Jews is at risk for being a carrier for at least one of 19 preventable Jewish genetic diseases, some of which include Bloom syndrome, cystic fibrosis, Gaucher disease (type 1), Joubert syndrome and Tay-Sachs disease.
Since most Jewish genetic diseases are recessive, both parents need to be a carrier for a disease to impact the health of a future child.
“Since more and more people are unaware of their lineage, it’s safer to be screened than not to be screened,” said Debby Hirshman, national director of the Victor Center, whose national base is in Philadelphia.
A carrier is someone who has a mutated copy of a gene in his or her genetic makeup that yields an enzyme deficiency prohibiting a particular substance from breaking down. The body’s inability to function properly results in a particular disease.
Awareness of Tay-Sachs disease grew in 1971, and programs throughout the United States began making testing routine. The aggressive response led to a decline in the disease among the Jewish population, and advances in today’s technology could conceivably allow a similar end in the battle against other genetic diseases.
“The ability to detect rare genetic diseases at this scale is a tremendous advancement in the field of genetics. Every disorder is actionable; in other words, results can be used to improve clinical outcomes,” said Shivani Nazareth, certified genetics counselor for Counsyl, a San Francisco-based organization dedicated to affordable carrier screening for disease-causing mutations.
Many women are screened once they are already pregnant, which limits their options to carrying out the pregnancy or terminating it. The push to get tested before conception relates to most Jewish genetic diseases being infantile-onset diseases that are fatal, but preventable with screening.
“This avoids the heartache of learning one’s carrier status only after the birth of a child with a devastating disease,” Nazareth said.
Cedars-Sinai Medical Center works with Counsyl and other laboratories to diagnose and manage genetic diseases, but specifically targets the Sephardi community by testing for a panel of four recessive Persian diseases.
“Our purpose is not to make decisions for them, it’s to empower couples to make the best decisions for themselves,” said Catherine Quindipan, a certified genetic counselor for Cedars-Sinai.
To prevent Jewish genetic diseases, a blood test will identify whether or not you are a carrier. Before getting screened, here are some things to consider according to the Victor Center, JGDC, Cedars-Sinai and Counsyl.
Why get tested? Advanced knowledge can help parents prepare for a child with potential health issues. At-risk couples can pursue pre-implantation genetic diagnosis (a technique used to find genetic defects in embryos) in conjunction with in-vitro fertilization or elect to use an egg or sperm donor. Testing also yields a carrier’s diagnosis for Gaucher disease, in which a carrier is also affected, even if he or she is not symptomatic.
Who should be tested? Since all Jewish genetic diseases are recessive, it is not always necessary to screen both parents. Screen the person with the stronger Jewish lineage, and if they test positive, then their partner can be tested.
Should interfaith and same-sex couples also get screened? Yes. The risk frequency might be lowered by marrying someone who isn’t Jewish, but it still exists. And while donors for same-sex couples who use donor eggs and sperm are usually prescreened, it’s still good to double check.
What do I need to be tested for? Patients need to ask their physician to screen them specifically for the Jewish panel of 19 diseases, according to the Victor Center, which offers a list of diseases with details on carrier frequency, symptoms and available treatments at victorcenters.org.
How much does it cost? Insurance companies often dictate the price tag for genetic screening. Some won’t offer a covered benefit until a woman is pregnant, since there is no liability until this point and testing earlier is considered a waste of resources. Costs can range from as little as $99 to thousands.
Is a salvia test a good genetic screening? To eliminate all risks of being a carrier of Tay-Sachs disease, you should request to screen for DNA and enzymes, which can be done only with a blood test. Otherwise the test will screen only for DNA mutations, which misses a small percentage of carriers.
Should I get rescreened before having another child? Hold on to your test results. It isn’t a matter of rescreening, but of updating your screening as technology advances and more information becomes available. In 2005, the Jewish panel of diseases covered only nine genetic diseases.
Are online genetic screening tests sufficient? Direct-to-consumer testing might not provide counseling services, which are strongly recommended. To ensure the quality of testing, laboratories should be properly certified. The Center for Medicare and Medicaid Services regulates lab testing through the Clinical Laboratory Improvement Amendments (CLIA). Check to make sure the screener is CLIA approved.
Consider purchasing life insurance first. Test results from genetic screening could make it difficult to buy life insurance, disability insurance or long-term-care insurance. Although, Congress passed the Genetic Information Nondiscrimination Act of 2008 to protect Americans against discrimination based on their genetic makeup from health insurers or employers, not all types of insurance are included.