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

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

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Publisher:: BMJ PUBLISHING GROUP
Publication Type:: Journal Article
Citation:: Journal of Medical Genetics, 2022
Issue Date:: 2022-01-01

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Field	Value	Language
dc.contributor.author	Tiller, JM
dc.contributor.author	Cousens, NE
dc.contributor.author	Kaur, R
dc.contributor.author	Rowley, S
dc.contributor.author	Ko, YA
dc.contributor.author	Mahale, S
dc.contributor.author	Bankier, A
dc.contributor.author	Meiser, B
dc.contributor.author	Barlow-Stewart, K
dc.contributor.author	Burnett, L
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.contributor.author	James, P
dc.contributor.author	Trainer, A
dc.contributor.author	Neil, S
dc.contributor.author	Campbell, IG
dc.contributor.author	Andrews, L
dc.contributor.author	Delatycki, M
dc.date.accessioned	2022-11-30T04:33:40Z
dc.date.available	2022-11-30T04:33:40Z
dc.date.issued	2022-01-01
dc.identifier.citation	Journal of Medical Genetics, 2022
dc.identifier.issn	0022-2593
dc.identifier.issn	1468-6244
dc.identifier.uri	http://hdl.handle.net/10453/163925
dc.description.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.
dc.language	English
dc.publisher	BMJ PUBLISHING GROUP
dc.relation.ispartof	Journal of Medical Genetics
dc.relation.isbasedon	10.1136/jmedgenet-2022-108519
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	06 Biological Sciences, 11 Medical and Health Sciences
dc.subject.classification	Genetics & Heredity
dc.title	Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study
dc.type	Journal Article
utslib.for	06 Biological Sciences
utslib.for	11 Medical and Health Sciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
utslib.copyright.status	open_access	*
dc.date.updated	2022-11-30T04:33:39Z
pubs.publication-status	Published

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.

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http://hdl.handle.net/10453/163925