P686: Opportunistic screening for broad range of clinically relevant secondary findings: Outcomes of exome analysis in the Incidental Genomics RCT
Practice is shifting towards use of exome and genome sequencing, offering the opportunity to expand analyses beyond variants related to the primary diagnostic indication to identify secondary findings (SFs). While medically actionable SFs are prioritized by guidelines, a much broader spectrum of results could be analyzed, aligned with patients' preferences. We characterized the outcomes of analyzing a broad range of clinically relevant SFs from exome sequencing in the Incidental Genomics RCT (NCT03597165), and the laboratory resources required for sequence analysis.
Authors
- Sonya Grewal (ORCID: https://orcid.org/0009-0008-6325-4717)
- Daena Hirjikaka
- Kelvin Chan (ORCID: https://orcid.org/0000-0002-2501-3057)
- Yael Silberman
- 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)
- Rita Kodida
- Thomas Ward (ORCID: https://orcid.org/0000-0002-7608-5755)
- Jordan P. Lerner‐Ellis (ORCID: https://orcid.org/0000-0003-3685-5679)
- Susan Randall Armel (ORCID: https://orcid.org/0000-0001-5016-3148)
- Tracy Graham
- Chantal F. Morel (ORCID: https://orcid.org/0000-0001-9159-2053)
- Salma Shickh
- Christine Elser (ORCID: https://orcid.org/0000-0003-0003-713X)
- 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)
- Iris Cohn (ORCID: https://orcid.org/0000-0002-3453-9421)
- Andrea Eisen (ORCID: https://orcid.org/0000-0001-8037-9556)
- Marc Clausen
- Carolyn Piccinin
- Emily Glogowski (ORCID: https://orcid.org/0000-0002-9996-4904)
- 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
- Chloe Mighton
- Larissa Peck (ORCID: https://orcid.org/0009-0006-0551-7940)
Institutions
- Broad Institute (US)
- Sunnybrook Health Science Centre (CA)
- University Health Network (CA)
- University of Toronto (CA)
- Juravinski Cancer Centre (CA)
- Hospital for Sick Children (CA)
- Health Sciences Centre (CA)
- Health Net (US)
- Sanofi (Belgium) (BE)
- Sinai Health System (US)
- Unity Health Toronto
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103055
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00