Screening programmes for BRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality of BRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent for BRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen). Forty-three participants from JeneScreen were invited to participate in a sub-study, of semi-structured pre- and post-result telephone interviews. Eleven participants consented to the sub-study. The interviews explored their experiences regarding the online model of obtaining pre-test genetic information, giving consent and receiving results. Inductive thematic analysis was carried out on the interviews. Overarching themes identified include (1) embracing online testing, (2) the online pre-test experience, (3) the result notification experience, (4) concerns associated with online testing and (5) testing as a responsibility. Overall, participants were highly satisfied with online BRCA1/2 JFM testing, an indication that the a website for pre-test information provision is an acceptable alternative to in-person genetic counselling for BRCA1/2 JFM screening and represents a feasible model for future community screening efforts.
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| http://dx.doi.org/10.1007/s12687-019-00450-7 | DOI Listing |
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Population-based testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
J Med Genet
March 2023
Murdoch Children's Research Institute, Parkville, Victoria, Australia
Article Synopsis
- Ashkenazi Jewish people have a higher likelihood of carrying pathogenic variants related to cancer, with three specific mutations accounting for over 90% of cases; traditional cancer history-based testing often fails to identify a significant number of these individuals.
- A study compared two different screening programs in Australia: one using an online tool in Sydney and the other using in-person sessions in Melbourne, testing 2167 Jewish participants for the mutations.
- Results indicated that both programs were well-received, successfully identifying several individuals with mutations who might otherwise have gone undetected; overall satisfaction was high, and knowledge about the risks was good, despite some slight anxiety and distress reported by those with mutations.
Evaluation of two population screening programmes for founder mutations in the Australian Jewish community: a protocol paper.
BMJ Open
June 2021
Hereditary Cancer Centre, Prince of Wales Hospital Cancer Services, Randwick, New South Wales, Australia.
Introduction: People of Ashkenazi Jewish (AJ) ancestry are more likely than unselected populations to have a pathogenic variant, which cause a significantly increased risk of breast, ovarian and prostate cancer. Three specific pathogenic variants, referred to as -Jewish founder mutations (B-JFM), account for >90% of pathogenic variants in people of AJ ancestry. Current practice of identifying eligible individuals for testing based on personal and/or family history has been shown to miss at least 50% of people who have one of these variants.
View Article and Find Full Text PDFOnline BRCA1/2 screening in the Australian Jewish community: a qualitative study.
J Community Genet
July 2020
Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, NSW, Australia.
Screening programmes for BRCA1/2 Jewish Founder mutations (JFM) in the Jewish community have been advocated internationally. Implementation of these programmes could decrease morbidity and mortality of BRCA1/2 JFM carriers through the uptake of cancer screening strategies and risk-reducing surgery. An online programme offered to the Sydney Jewish community that delivers pre-test information and collects consent for BRCA1/2 JFM testing via a website is currently being evaluated (JeneScreen).
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