P547: An imperfect system: Access to genetic testing and hereditary cancer syndrome care-A national survey
Conclusion: While all genes involved in IEM conditions on the core RUSP had a definitive clinical validity classification, the General IEM GCEP found that at least 4 genes associated with conditions on the secondary RUSP are not definitively associated with the condition.This is to be expected considering that conditions on the secondary RUSP are not the primary target of NBS.Understanding clinical validity is important in variant classification.As such, clinical validity classifications should be considered during followup of these neonates, taking into account the positive and negative effects of uncertain NBS results.
Authors
- Catriona Remocker
- Julee Pauling
- Sepideh Rajeziesfahani (ORCID: https://orcid.org/0000-0003-4102-5231)
- 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)
- Sevtap Savas (ORCID: https://orcid.org/0000-0002-7324-938X)
- Teresa Tiano
- Claudia Pavao
- Sophie Sun (ORCID: https://orcid.org/0000-0001-6003-7786)
- Tracy Graham
- Angelina Tilley
- Holly Etchegary (ORCID: https://orcid.org/0000-0001-9673-0726)
- Lesa Dawson (ORCID: https://orcid.org/0000-0002-6879-6602)
- Andrea Eisen (ORCID: https://orcid.org/0000-0001-8037-9556)
- Carly Butkowsky (ORCID: https://orcid.org/0000-0001-8049-022X)
- Marc Clausen
- Ridhi Gopalakrishnan
- Vernie Aguda
- Derrick Bishop
- Melyssa Aronson (ORCID: https://orcid.org/0000-0002-7503-5799)
- Jordan Sam
- Emma Reble
- Petros Pechlivanoglou (ORCID: https://orcid.org/0000-0001-5090-7936)
- Chloe Mighton
- Brooklyn Sparkes
- Jane Green (ORCID: https://orcid.org/0000-0002-0858-0500)
Institutions
- St. Michael's Hospital (CA)
- Memorial University of Newfoundland (CA)
- Sunnybrook Health Science Centre (CA)
- University of Toronto (CA)
- Great Ormond Street Hospital (GB)
- Hospital for Sick Children (CA)
- Health Sciences Centre (CA)
- SickKids Foundation (CA)
- Sinai Health System (US)
- St Michaels Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102390
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00