Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre
The assessment of VUS leveraging multidisciplinary collaboration allowed us to delineate required follow-up analyses for our neurology patient population. Integration of VUS Rounds into healthcare practices ensures equitable knowledge dissemination among HCPs and effective incorporation of uncertain genetic results into patient care.
Authors
- Guy Armand Rouleau (ORCID: https://orcid.org/0000-0001-8403-1418)
- Roberta La Piana (ORCID: https://orcid.org/0000-0002-4207-5065)
- Miranda Medeiros
- Allison A. Dilliott (ORCID: https://orcid.org/0000-0003-3863-9304)
- Nellie H. Fotopoulos (ORCID: https://orcid.org/0000-0001-6268-4469)
- Emily Dwosh
- Isabela Dall’Oglio Bucco (ORCID: https://orcid.org/0000-0003-4565-4836)
- Kayla Horowitz (ORCID: https://orcid.org/0000-0002-8319-2188)
- Sali M.K. Farhan (ORCID: https://orcid.org/0000-0001-5936-0957)
- J. A. Simó (ORCID: https://orcid.org/0009-0002-2118-1683)
- Alana J. Mistry
- Mia Ginsberg
Institutions
- University of British Columbia Hospital (CA)
- Montreal Neurological Institute and Hospital (CA)
- Vancouver Coastal Health (CA)
- University of British Columbia (CA)
- McGill University (CA)
- Universidade Federal do Paraná (BR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-11-15
- DOI
- https://doi.org/10.1136/jmg-2024-110122
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10