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

doi:10.1111/hae.13637

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

Bristol Medical School (PHS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

20 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 language	English
Pages (from-to)	116-126
Number of pages	11
Journal	Haemophilia
Volume	25
Issue number	1
Early online date	21 Jan 2019
DOIs	https://doi.org/10.1111/hae.13637
Publication status	Published - Jan 2019

Keywords

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

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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.",

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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. / Gomez, Keith; Laffan, Mike; Keeney, Steve et al.
In: Haemophilia, Vol. 25, No. 1, 01.2019, p. 116-126.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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AU - Sutherland, Megan

AU - Curry, Nikki

AU - Lunt, Peter

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AB - 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.

KW - clinical genetic testing

KW - consent for genetic testing

KW - genetic interpretation

KW - genetic reporting

KW - inherited bleeding disorders

KW - sequence variant terminology

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SN - 1351-8216

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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

Abstract

Keywords

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