Article Text

Download PDFPDF
Original research
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study
  1. Jane M Tiller1,2,
  2. Nicole E Cousens3,4,
  3. Rajneesh Kaur5,6,
  4. Simone Rowley7,
  5. Yi-An Ko7,
  6. Sakshi Mahale7,
  7. Agnes Bankier8,
  8. Bettina Meiser3,
  9. Kristine Barlow-Stewart9,
  10. Leslie Burnett10,
  11. Chris Jacobs11,
  12. Paul James12,13,
  13. Alison Trainer14,15,
  14. Suzanne Neil16,
  15. Ian G Campbell17,18,
  16. Lesley Andrews5,
  17. Martin Delatycki1,2
  1. 1Murdoch Children's Research Institute, Parkville, Victoria, Australia
  2. 2Victorian Clinical Genetics Services, Parkville, Victoria, Australia
  3. 3Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales, Australia
  4. 4Hereditary Cancer Centre, Prince of Wales Hospital and Community Health Services, Randwick, New South Wales, Australia
  5. 5University of New South Wales, Sydney, New South Wales, Australia
  6. 6Sydney Medical School, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia
  7. 7Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Parkville, Victoria, Australia
  8. 8Royal Children’s Hospital, Parkville, Victoria, Australia
  9. 9The University of Sydney, Sydney, New South Wales, Australia
  10. 10Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
  11. 11Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia
  12. 12Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
  13. 13Genomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia
  14. 14Parkville Familial Cancer Centre, Peter MacCallum Cancer Institute, Parkville, Victoria, Australia
  15. 15University of Melbourne, Melbourne, Victoria, Australia
  16. 16Epworth Hospital, Richmond, Victoria, Australia
  17. 17Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
  18. 18Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia
  1. Correspondence to Professor Martin Delatycki, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; martin.delatycki{at}vcgs.org.au

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.

  • Genetic Testing
  • Genetic Counseling
  • Ethics
  • Genetics, Population
  • Heredity

Data availability statement

Data are available upon reasonable request. Data are made available in the supplemental materials. Further data are available upon reasonable request.

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Data availability statement

Data are available upon reasonable request. Data are made available in the supplemental materials. Further data are available upon reasonable request.

View Full Text

Footnotes

  • LA and MD are joint senior authors.

  • JMT and NEC are joint first authors.

  • Twitter @JaneMTiller

  • JMT and NEC contributed equally.

  • LA and MD contributed equally.

  • Contributors JMT, NEC, BM, KB-S, RK, AB, LB, CJ, PJ, AT, SN, LA and MD were involved in conception and/or design of the study. NEC and JMT are also responsible for implementing the protocol, data acquisition and manuscript drafting. MD and LA are also responsible for critical revision of the work and act as guanantor for the manuscript. RK is responsible for data analysis. IGC, SM, SR and Y-AK were involved in laboratory protocol development and data acquisition. All authors reviewed drafts of the manuscript.

  • Funding This work is supported by numerous philanthropic donations from individuals and organisations within the Sydney and Melbourne Jewish communities. BM is supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B (ID 1078523).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.