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Original research
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing
  1. Yifan Wang1,2,3,
  2. Bryn Golesworthy3,4,
  3. Adeline Cuggia3,
  4. Celine Domecq3,
  5. Prosanto Chaudhury1,
  6. Jeffrey Barkun1,
  7. Peter Metrakos1,3,
  8. Jamil Asselah5,
  9. Nathaniel Bouganim5,
  10. Zu-Hua Gao3,6,
  11. George Chong7,
  12. William D Foulkes3,4,
  13. George Zogopoulos1,2,3
  1. 1 Department of Surgery, McGill University, Montreal, Québec, Canada
  2. 2 Rosalind and Morris Goodman Cancer Institute, Montreal, Québec, Canada
  3. 3 The Research Institute of the McGill University Health Centre, Montreal, Québec, Canada
  4. 4 Department of Human Genetics, McGill University, Montreal, Québec, Canada
  5. 5 Department of Oncology, McGill University, Montreal, Québec, Canada
  6. 6 Department of Pathology, McGill University, Montreal, Québec, Canada
  7. 7 Molecular Diagnostics Laboratory, Sir Mortimer B. Davis-Jewish General Hospital, Montreal, Québec, Canada
  1. Correspondence to Dr George Zogopoulos, McGill University Health Centre, 1001 boul. Decarie, Rm EM2.3210, Montreal, Québec, Canada; george.zogopoulos{at}


Background Traditional medical genetics models are unable to meet the growing demand for germline genetic testing (GT) in patients with exocrine pancreatic cancer (PC). This study investigates the impact of an ambulatory oncology clinic-based GT model.

Methods From 2012 to 2021, patients with PC were prospectively enrolled and considered for GT. Two chronological cohorts were compared: (1) the preuniversal genetic testing (pre-UGT) cohort, which received GT based on clinical criteria or family history; and (2) the post-UGT cohort, where an 86-gene panel was offered to all patients with PC.

Results Of 847 eligible patients, 735 (86.8%) were enrolled (pre-UGT, n=579; post-UGT, n=156). A higher proportion of the post-UGT cohort received prospective GT (97.4% vs 58.5%, p<0.001). The rate of pathogenic germline alterations (PGA) across both cohorts was 9.9%, with 8.0% of PGAs in PC susceptibility genes. The post-UGT cohort had a higher prevalence of overall PGAs (17.2% vs 6.6%, p<0.001) and PGAs in PC susceptibility genes (11.9% vs 6.3%, p<0.001). The median turnaround time from enrolment to GT report was shorter in the post-UGT cohort (13 days vs 42 days, p<0.001). Probands with a PGA disclosed their GT results to 84% of their first-degree relatives (FDRs). However, only 31% of informed FDRs underwent GT, and the number of new cases per index case was 0.52.

Conclusion A point-of-care GT model is feasible and expedites access to GT for patients with PC. Strategies to increase the uptake of cascade testing are needed to maximise the clinical impact of an oncology clinic-based GT model.

  • pancreatic diseases
  • genetic testing
  • germ-line mutation
  • genetic carrier screening
  • genetic predisposition to disease

Data availability statement

Data are available upon reasonable request.

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  • Contributors YW: conceptualisation, data curation, formal analysis, writing - original draft, writing - review and editing. BG: data curation, formal analysis, writing - review and editing. AC, CD: data curation, methodology, project administration, writing - review and editing. PC, JB, PM, JA, NB: resources, writing - review and editing. Z-HG, GC: methodology, resources, writing - review and editing. WDF: conceptualisation, methodology, resources, supervision, writing - review and editing. GZ: conceptualisation, formal analysis, supervision, writing - original draft, writing - review and editing.

  • Funding This work was funded by the Terry Fox Research Institute, the Pancreatic Cancer Canada Foundation, and the Quebec Cancer Consortium through the Fonds d’accélération des collaborations en santé programme of the Ministère de l’Économie et de l’Innovation du Québec. YW is supported by a Vanier Canada Graduate Scholarship, the Fonds de recherche du Québec - Santé/Ministère de la Santé et des Services sociaux training programme, and the McGill University Surgical Scientist Program. GZ is a clinical research scholar of the Fonds de recherche du Québec - Santé and a recipient of the Michal & Renata Hornstein Career Award from McGill University.

  • 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.