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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