Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.

ABSTRACT: Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a broader population arises. We evaluated how many additional actionable genetic variants are returned by unrestricted panel testing in the private sector compared to those which would be returned by adhering to current NHS eligibility criteria. We reviewed 152 patients referred for multi-gene cancer panels in the private sector between 2014 and 2016. Genetic counselling and disclosure of all results was standard of care provided by the Consultant. Every panel conducted was compared to current eligibility criteria. A germline pathogenic / likely pathogenic v

SUBMITTER: Andoni T 

PROVIDER: S-EPMC8861039 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature