The test to detect genetic risks in future children has been transformed. And Chicago's Center for Jewish Genetics is the first and only community screening program in the nation to offer it exclusively.
The new Counsyl 2.0 test uses the advanced technology of DNA sequencing, along with the widely used technique of genotyping, to identify whether a person carries any of a wide range of genetic mutations that could put their offspring at risk of major disorders. And, unlike traditional tests that have required a blood sample, Counsyl 2.0 uses only saliva.
As a result, testing is now more accessible, convenient and confidential. The Center now can offer individuals and couples at-home education and genetic counseling prior to the subsidized screening, via live webinars and one-on-one phone calls with a genetic counselor. Participants then receive their saliva test at home, along with a pre-addressed box for sending it back. Once the sample has been analyzed, the Center's genetic counselor will follow-up to discuss the results.
"Carrier screening for high-risk groups provides individuals and couples with potentially life-saving information, but it typically is very expensive," said Dr. Joel Charrow, Center for Jewish Genetics Board of Directors member and head of the Division of Genetics, Birth Defects and Metabolism at Ann & Robert H. Lurie Children's Hospital of Chicago. "Now, the Center is able to offer education, counseling and subsidized screening to individuals throughout the state with the use of DNA sequencing on saliva, at a cost that puts it within financial reach of many more people."
There are two types of genetic tests, genotyping and sequencing. Genotyping looks for known mutations that are common in a certain population. Sequencing looks at the entire gene and identifies every mutation. The change to sequencing is increasingly important in a melting-pot society where family backgrounds vary and genotyping may not be as successful in identifying a carrier. Counsyl 2.0 offers both genotyping and with sequencing.
With the change to Counsyl 2.0, the Center leads community screening programs by offering participants the most advanced screening option available, in the convenience and privacy of their own home-all with a small sample of spit.
One in four individuals of Jewish descent is a carrier of one of the 19 genetic disorders that are significantly more common in the Jewish population-including Tay-Sachs disease, Gaucher, and Canavan, among others. Carriers typically are healthy, but their future children could be at risk for being affected by the disorder. The Center screens individuals and couples so they have the necessary tools to make informed family planning decisions. With the change to live-webinars and sequencing, the Center is now able to offer its subsidized service to those across the state of Illinois.
The Center for Jewish Genetics is a cooperative effort of the Jewish United Fund/Jewish Federation of Metropolitan Chicago and the Ann & Robert H. Lurie Children's Hospital of Chicago.
Alyssa Cohen is the Strategic Communications Coordinator for the Center for Jewish Genetics.