By Haley Fuoco
As my internship at the Sarnoff Center wraps up, I wanted to share an overview of my research this summer on how to define a Jewish genetic disorder and to understand the commonalities between seemingly different Jewish genetic disorders.
Jewish genetic disorders vary in their severity, age of onset, carrier frequencies, and treatment options. Despite these differences, they have at least one commonality: their link to the founder effect. The founder effect theorizes that most Ashkenazi Jews alive today descended from a group of only a few thousand individuals, or “founders,” who lived in Eastern Europe 500 years ago. Thus, even if just a few of these individuals or founders had a mutation, those mutations would increase in frequency over time. There is no set carrier frequency used to define Jewish genetic disorders, although they all have high carrier frequencies among individuals of Ashkenazi Jewish descent because of the founder effect.
Various organizations have different definitions as to which genetic disorders fall under the umbrella term “Jewish genetic disorders.” Some genetic testing companies recognize 18 to 19 genetic disorders as Jewish genetic disorders. However, there is a growing recommendation that individuals with Jewish ancestry receive expanded carrier screening over targeted Jewish ancestry panels to increase carrier detection effectiveness. Expanded carrier screening is more effective than targeted Jewish ancestry panels because many individuals come from mixed ancestry or might not know their ancestry. One study concluded that the research on Jewish genetic disorders still has a long way to go but community-based testing organizations, like the Sarnoff Center, are ahead of the current research by offering larger expanded carrier screening panels.
As the size of carrier screening panels increases, there might be an increase in the number of genetic disorders that have high carrier frequencies in individuals with Jewish ancestry. Therefore, Jewish genetics continues to evolve. The Sarnoff Center continues to adapt to the increase of information on Jewish genetics to ensure the community is well informed and has access to a subsidized carrier screening for more than 200 genetic disorders. To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor visit jewishgenetics.org/get-screened or contact us at GeneticScreening@juf.org.
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