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Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper

Authors :
Michael Laffan
Peter Lunt
Steve Keeney
Megan Sutherland
Nikki Curry
Keith Gomez
Source :
Haemophilia. 25:116-126
Publication Year :
2019
Publisher :
Wiley, 2019.

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.

Details

ISSN :
13518216
Volume :
25
Database :
OpenAIRE
Journal :
Haemophilia
Accession number :
edsair.doi.dedup.....820243f5d8806931285d6b1a206cf789
Full Text :
https://doi.org/10.1111/hae.13637