| Autor: |
Tiller, Jane M, Cousens, Nicole E, Kaur, Rajneesh, Rowley, Simone, Ko, Yi-An, Mahale, Sakshi, Bankier, Agnes, Meiser, Bettina, Barlow-Stewart, Kristine, Burnett, Leslie, Jacobs, Chris, James, Paul, Trainer, Alison, Neil, Suzanne, Campbell, Ian G, Andrews, Lesley, Delatycki, Martin |
| Zdroj: |
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 3 p265-273, 9p |
| Abstrakt: |
BackgroundAshkenazi Jewish (AJ) people have a higher incidence of BRCA1/2pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2PVs in AJ people. Personal/family cancer history-based testing misses ≥50% of people with B-JFM.MethodsWe compared two population-based B-JFM screening programmes in Australia—using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne).ResultsOf 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.ConclusionBoth 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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