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.
clinical genetic testing
consent for genetic testing
genetic interpretation
genetic reporting
inherited bleeding disorders
sequence variant terminology
Journal
Haemophilia : the official journal of the World Federation of Hemophilia
ISSN: 1365-2516
Titre abrégé: Haemophilia
Pays: England
ID NLM: 9442916
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
received:
12
09
2018
revised:
23
10
2018
accepted:
29
10
2018
entrez:
22
1
2019
pubmed:
22
1
2019
medline:
30
4
2019
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Practice Guideline
Langues
eng
Sous-ensembles de citation
IM
Pagination
116-126Informations de copyright
© 2019 John Wiley & Sons Ltd.