Understanding of @entity5345 VUS genetic results by XXXX specialists.

@entity5345 @entity1 @entity0
BACKGROUND: Mainstreaming genetic medicine, increased media coverage and clinical trials for @entity5345 mutation carriers are leading oncologists into more @entity1 discussions about @entity5345 genetic testing. @entity5345 variants of uncertain significance (VUS) occur in 10-20  % of tests. VUS detection introduces additional uncertainty for @entity1 and potentially clinician. We aimed to explore the ability of @entity0 specialists (BCS) in the UK to correctly respond to a VUS report. METHODS: A survey sent to 800 UK BCS collected demographics data, VUS general knowledge and interpretation and communication based on two genetics reports. A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems. RESULTS: Of the 155 BCS (22.5  %) who completed the survey, 12  % reported no genetics training. Ninety five percent referred @entity1 for @entity5345 genetic tests, 71  % felt unsure about the clinical implications of the test reports presented here. A VUS report from a @entity1 with a positive family history was interpreted and theoretically communicated correctly by 94  % but when presented with a different VUS report with no management guidance and negative family history, 39  % did not know how to communicate this result to the @entity1 . Geneticists reported multiple VUS classification systems; the most commonly used was word-based in 32  %. CONCLUSIONS: A consistent and standardised format to report particularly VUS results across all diagnostic laboratories plus additional training of UK BCS will be necessary for effective mainstreaming of @entity5345 testing to the oncology clinic.
