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
Author(s)
Type
Journal Article
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.
Date Issued
2019-01-01
Date Acceptance
2018-10-29
Citation
Haemophilia, 2019, 25 (1), pp.116-126
ISSN
1351-8216
Publisher
Wiley
Start Page
116
End Page
126
Journal / Book Title
Haemophilia
Volume
25
Issue
1
Copyright Statement
© 2019 John Wiley & Sons Ltd. This is the accepted version of the following article: Gomez, K, Laffan, M, Keeney, S, Sutherland, M, Curry, N, Lunt, P. 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. Haemophilia. 2019; 25: 116– 126, which has been published in final form at https://doi.org/10.1111/hae.13637
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000456688500028&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Subjects
Science & Technology
Life Sciences & Biomedicine
Hematology
clinical genetic testing
consent for genetic testing
genetic interpretation
genetic reporting
inherited bleeding disorders
sequence variant terminology
SEQUENCE VARIANTS
MUTATION
ORIGIN
GUIDELINES
PHENOTYPE
CARRIERS
Publication Status
Published
Date Publish Online
2019-01-21