| Popis: |
Purpose: A primary challenge in clinical genetics is accurate interpretation of identified variants and relaying the information to patients and providers. Inconsistencies around handling variant reclassifications and notifying patients, combined with the lack of prescriptive guidelines on re-evaluation, reanalysis, and return of variants, has created practice challenges. Although relevant empirical work has emerged, the scope and outcomes of this research have not been characterized. Methods: We conducted a systematic literature review of variant reclassification and recontact research (2013-2023) across subdisciplines of medical genetics. Of the 159 nonduplicate records screened, we summarize findings from 54 included research articles describing variant reclassification frequencies, outcomes, and stakeholder perspectives on recontact. Results: The included articles reported on active reclassification (n = 20), passive reclassification (n = 13), stakeholder surveys (n = 11), qualitative interviews (n = 7), and reanalysis of published or ClinVar data (n = 3). On average, active and passive approaches yielded different reclassification frequencies—31% and 20%, respectively, which were considerably higher than ClinVar ( |
