NATIONAL TAY-SACHS & ALLIED DISEASES Association of Delaware Valley

Carrier Screening Information

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Standards for Carrier Screening

Because prevention through screening is our primary mission, we believe it is critical that at-risk individuals receive the most accurate screening possible. Many genetic diseases can be screened for using a DNA analysis. DNA testing for Tay-Sachs disease relies on using the most common mutations of the gene for the Ashkenazi population. However, Tay-Sachs disease is prevalent in many non-Jewish populations including Irish and French Canadians. For these groups, DNA analysis is not sufficient, and screening must be done using an enzyme analysis which requires a blood sample. Enzyme testing measures the level of Hex-A in the blood regardless of your ethnic background.

The American Journal of Medical Genetics recently published a research article examining population based Tay-Sachs screening for Ashkenazi Jews. This article was co-authored by Dr. Adele Schneider, medical director of the Victor Center for Jewish Genetic Diseases. Dr. Schneider and her colleagues examined the use of DNA only screening in community and college based programs across the United States. Testing over 1,000 samples they found that DNA analysis alone missed 11.4% of carriers.

Click here to read Dr. Schneider's article

Echoing these conclusions, our National organization in Boston recently published a position statement on standards for carrier screening. It also recommends enzymatic analysis as the primary testing method for identifying carriers for Tay-Sachs disease.

Click here to read the NTSAD position statement