Table 4.
Suggestions to Support Continued Improvement in Germline Variant Classification and Return
Goal | Suggestions |
---|---|
Increase concordance in interpretation and classification of germline variation | Additional guidance to increase consistent application of ACMG-AMP evidence codes (ex. PM1 and PS4, especially in the context of applying PM2) |
Increase laboratory awareness and consistent use of available resources (ex. ClinGen guidance) | |
Continue and increase sharing of gene-disease specific expertise and rationale for applying evidence across laboratories | |
Provide clinically meaningful results to patients and their families | Ongoing work to support the interpretation and classification of uncertain genomic variation |
Contextualize laboratory results in the context of the personal and family history of the individual (especially LP variants returned as secondary findings) |