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

Keith Gomez*, Mike Laffan, Steve Keeney, Megan Sutherland, Nikki Curry, Peter Lunt

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)

3 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)116-126
Number of pages11
JournalHaemophilia
Volume25
Issue number1
Early online date21 Jan 2019
DOIs
Publication statusPublished - Jan 2019

Keywords

  • clinical genetic testing
  • consent for genetic testing
  • genetic interpretation
  • genetic reporting
  • inherited bleeding disorders
  • sequence variant terminology

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