P669: Empowering clinicians to resolve VUS: Presenting VUS clarification outcomes
Familial segregation studies provide essential, yet often underutilized, information for reclassifying Variants of Uncertain Significance (VUS). The VUS Clarification Service (VCS) program was designed to enhance the utility of familial segregation data. This unique approach offered a structured, three-tiered approach to assess potentially significant VUS and deliver customized guidance in clinical reports. In Tier 1, parental or offspring testing is performed to determine de novo status and phase without requiring a formal application or a formal application.
Authors
- Mia Toivonen
- Allison Sluyters
- Julie Hathaway (ORCID: https://orcid.org/0000-0002-0144-4653)
- Juha Koskenvuo (ORCID: https://orcid.org/0000-0002-2306-2883)
- S. Sushama Bai
- Laurel Fuqua
- Kimberly Gall (ORCID: https://orcid.org/0000-0001-9203-4985)
- Eija H. Seppälä
- Michelle Paczosa
- Jennifer Keller-Ramey
Institutions
- Quest Diagnostics (United Kingdom) (GB)
- Blueprint Genetics (Finland) (FI)
- Quest Diagnostics (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103038
- Primary Topic
- Vascular Procedures and Complications
- Type
- article
- Field-Weighted Citation Impact
- 0.00