Article
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
Scientific reports - 21 Feb 2022
Andoni Tala, Wiggins Jennifer, Robinson Rachel, Charlton Ruth, Sandberg Michael, Eeles Rosalind
Abstract excerpt
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...
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