Date of Award

Spring 2023

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Janice Edwards

Abstract

Founder mutations within the Ashkenazi Jewish (AJ) population are associated with significantly higher carrier rates for certain severe, life-limiting conditions collectively called Jewish Genetic Diseases (JGDs), and for pathogenic variants in the BRCA1 and BRCA2 (BRCA1/2) cancer susceptibility genes. Efforts to educate AJ individuals about the implications of these founder mutations and available testing have increased the past forty years; however, studies suggest AJ individuals are not well educated on the topic (Hardy et al., 2022; Kaback, 2001; Warsch et al., 2014). Studies evaluating the reason for this gap in knowledge of young AJ adults are lacking. This study aimed to evaluate the knowledge of the young adult AJ population about their increased carrier risk for severe recessive diseases and BRCA1/2 gene-related cancer predispositions and assess factors contributing to their knowledge.

An electronic survey was distributed to Jewish and non-Jewish organizations across the United States. One hundred nineteen individuals between ages 18 and 27 (mean= 22.3; 65.5% female, 28.6% male; 5.9% gender minority) who self-identified as having at least one Ashkenazi Jewish grandparent completed the questionnaire. Demographics, personal experience with genetic testing for JGDs and BRCA1/2 mutations, and their educational experience about these topics were collected. Knowledge assessments of JGDs and BRCA1/2 mutations were also included.

Approximately 60% of participants had ‘never heard of’ or ‘did not know much about’ JGDs or BRCA1/2 gene mutations. Knowledge assessment scores for JGDs were lower compared to BRCA1/2 (69.1% vs. 78.1%) and significantly lower compared to a previous 2014 study (78.2% v. 81.4%, p value= .036). Learning most often took place at home or from parents, despite being one of the least chosen suggestions for future educational efforts. Participant preferences suggested future efforts begin as early as 11 to 14 years old in synagogues and other Jewish religious organizations.

We recommend an introductory module of Jewish genetic health concepts be incorporated into the bar/bat mitzvah curriculum by Hebrew schools and Jewish Day schools. By doing so, AJ young adults will take the first step towards achieving “AJ Genetic Health Literacy” in preparation to utilize their health literacy skills when they are of testing age (18+) to make informed, autonomous decisions about genetic testing and individualized medical management.

Rights

© 2023, Hayley Kathleen Granger

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