Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study
GS provided a modest increase in utility after first-tier cancer gene panels, at the cost of a high frequency of uncertain results. Furthermore, most positives were low/moderate cancer risk results that did not have corresponding evidence-based, management guidelines.
Authors
- Craig C. Earle (ORCID: https://orcid.org/0000-0002-0420-1999)
- Jada G. Hamilton (ORCID: https://orcid.org/0000-0001-8377-4666)
- Irfan A. Dhalla
- Kasmintan A. Schrader (ORCID: https://orcid.org/0000-0002-7413-4314)
- Kevin E. Thorpe (ORCID: https://orcid.org/0000-0002-7586-3893)
- Yvonne Bombard (ORCID: https://orcid.org/0000-0002-9516-4539)
- Jordan P. Lerner‐Ellis (ORCID: https://orcid.org/0000-0003-3685-5679)
- Nancy N. Baxter (ORCID: https://orcid.org/0000-0003-4793-4620)
- Susan Randall Armel (ORCID: https://orcid.org/0000-0001-5016-3148)
- Tracy Graham
- Mark E. Robson (ORCID: https://orcid.org/0000-0002-3109-1692)
- Chantal F. Morel (ORCID: https://orcid.org/0000-0001-9159-2053)
- Wanrudee Isaranuwatchai (ORCID: https://orcid.org/0000-0002-8368-6065)
- Daena Hirjikaka (ORCID: https://orcid.org/0000-0002-5223-5456)
- Timothy Caulfield (ORCID: https://orcid.org/0000-0001-5471-6184)
- Stephen W. Scherer (ORCID: https://orcid.org/0000-0002-8326-1999)
- Salma Shickh
- Christine Elser (ORCID: https://orcid.org/0000-0003-0003-713X)
- Michelle Mujoomdar
- Abdul Noor (ORCID: https://orcid.org/0000-0002-4892-5876)
- José‐Mario Capo‐Chichi (ORCID: https://orcid.org/0000-0002-7440-3633)
- Raymond H. Kim (ORCID: https://orcid.org/0000-0002-2147-8674)
- Tammy Clifford (ORCID: https://orcid.org/0000-0002-2356-2300)
- Iris Cohn (ORCID: https://orcid.org/0000-0002-3453-9421)
- Andrea Eisen (ORCID: https://orcid.org/0000-0001-8037-9556)
- Marc Clausen
- Emily Glogowski (ORCID: https://orcid.org/0000-0002-9996-4904)
- Kenneth Bond (ORCID: https://orcid.org/0000-0002-7620-9375)
- Elena Greenfeld (ORCID: https://orcid.org/0009-0004-4489-2095)
- Melyssa Aronson (ORCID: https://orcid.org/0000-0002-7503-5799)
- Jordan Sam
- Seema Panchal
- Emma Reble
- Monika Kastner (ORCID: https://orcid.org/0000-0002-2838-7417)
- Chloe Mighton
- June Carroll (ORCID: https://orcid.org/0000-0002-5893-4194)
- Andreas Laupacis
- Kenneth Offit
- Terrence Sullivan
- Michael F. Evans
- Adena Scheer
Institutions
- Ontario Institute for Cancer Research (CA)
- Mount Sinai Hospital (CA)
- St. Michael's Hospital (CA)
- Sunnybrook Health Science Centre (CA)
- University Health Network (CA)
- University of British Columbia (CA)
- The University of Melbourne (AU)
- University of Toronto (CA)
- Lunenfeld-Tanenbaum Research Institute (CA)
- Hospital for Sick Children (CA)
- Health Sciences Centre (CA)
- Princess Margaret Cancer Centre (CA)
- Unity Health Toronto
Publication Details
- Journal
- JCO Precision Oncology
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1200/po-24-00407
- Citations
- 1
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.55