Consultation informs strategies to improve functional evidence use in variant classification.

ABSTRACT: To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice. Results indicated that survey respondents are not confident to apply functional evidence, mainly due to uncertainty around practice recommendations. Respondents also identified need for support resources, educational opportunities, and in particular requested expert recommendations and updated practice guidelines to improve

SUBMITTER: Villani RM 

PROVIDER: S-EPMC11643179 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature