| Literature DB >> 30664826 |
Keith Gomez1, Mike Laffan2, Steve Keeney3, Megan Sutherland3, Nikki Curry4, Peter Lunt5.
Abstract
This paper sets out good practice for clinicians involved in interpreting variant reports for patients with inherited bleeding disorders. It is aimed primarily at doctors, nurses and allied healthcare professionals who may not have had specific training in genetic testing methodology or reporting. It deals with uncertainty in classification of variant pathogenicity and the handling of incidental findings.Entities:
Keywords: clinical genetic testing; consent for genetic testing; genetic interpretation; genetic reporting; inherited bleeding disorders; sequence variant terminology
Mesh:
Year: 2019 PMID: 30664826 DOI: 10.1111/hae.13637
Source DB: PubMed Journal: Haemophilia ISSN: 1351-8216 Impact factor: 4.287