Literature DB >> 30664826

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 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.
© 2019 John Wiley & Sons Ltd.

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


  2 in total

1.  Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.

Authors:  Kate Downes; Pascal Borry; Katrin Ericson; Keith Gomez; Andreas Greinacher; Michele Lambert; Eva Leinoe; Patrizia Noris; Chris Van Geet; Kathleen Freson
Journal:  J Thromb Haemost       Date:  2020-10       Impact factor: 5.824

2.  Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Authors:  Nadine G Andersson; Veerle Labarque; Anna Letelier; Maria Elisa Mancuso; Martina Bührlen; Kathelijn Fischer; Mutlu Kartal-Kaess; Minna Koskenvuo; Torben Mikkelsen; Rolf Ljung
Journal:  Hum Mutat       Date:  2020-10-14       Impact factor: 4.878

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.