Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study

Tiller, JM; Cousens, NE; Kaur, R; Rowley, S; Ko, YA; Mahale, S; Bankier, A; Meiser, B; Barlow-Stewart, K; Burnett, L; Jacobs, C; James, P; Trainer, A; Neil, S; Campbell, IG; Andrews, L; Delatycki, M

Author(s): Tiller, JM; Cousens, NE; Kaur, R; Rowley, S; Ko, YA; Mahale, S; Bankier, A; Meiser, B; Barlow-Stewart, K; Burnett, L; Jacobs, C; James, P; Trainer, A; Neil, S; Campbell, IG; Andrews, L; Delatycki, M;
Details: Publication Year 2023-03,Volume 60,Issue #3,Page 265-273
Journal Title: Journal of Medical Genetics
Publication Type: Research article
Abstract: BACKGROUND: Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2 PVs in AJ people. Personal/family cancer history-based testing misses >/=50% of people with B-JFM. METHODS: We compared two population-based B-JFM screening programmes in Australia-using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne). RESULTS: Of 2167 Jewish people tested (Sydney n=594; Melbourne n=1573), 1.3% (n=28) have a B-JFM, only 2 of whom had a significant cancer family history (Manchester score >/=12). Pretest anxiety scores were normal (mean 9.9+/-3.5 (6-24)), with no significant post-result change (9.5+/-3.3). Decisional regret (mean 7.4+/-13.0 (0-100)), test-related distress (mean 0.8+/2.2 (0-30)) and positive experiences (reverse-scored) (mean 3.4+/-4.5 (1-20)) scores were low, with no significant differences between Sydney and Melbourne participants. Post-education knowledge was good overall (mean 11.8/15 (+/-2.9)) and significantly higher in Melbourne than Sydney. Post-result knowledge was the same (mean 11.7 (+/-2.4) vs 11.2 (+/-2.4)). Participants with a B-JFM had higher post-result anxiety and test-related distress and lower positive experiences, than those without a B-JFM, but scores were within the normal range. Family cancer history did not significantly affect knowledge or anxiety, or pretest perception of B-JFM or cancer risks. Most participants (93%) were satisfied/very satisfied with the programme. CONCLUSION: Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia.
Publisher: BMJ
Keywords: Humans; Female; Genetic Testing/methods; Jews/genetics; Genetic Predisposition to Disease; Australia; BRCA1 Protein/genetics; *Neoplasms/genetics; BRCA2 Protein/genetics; *Breast Neoplasms/genetics; Mutation; Ethics; Genetic Counseling; Genetic Testing; Genetics, Population; Heredity
Department(s): Laboratory Research; Familial Cancer Centre
PubMed ID: 36763037
Publisher's Version: https://doi.org/10.1136/jmedgenet-2022-108519
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2023-07-11 06:23:38

Last Modified: 2024-07-30 02:06:53