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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
- Source :
- Haemophilia. 25:116-126
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
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.
- Subjects :
- 030204 cardiovascular system & hematology
GUIDELINES
PHENOTYPE
Presentation
0302 clinical medicine
SEQUENCE VARIANTS
MUTATION
Genetics (clinical)
media_common
genetic interpretation
medicine.diagnostic_test
ORIGIN
Mosaicism
Uncertainty
Hematology
General Medicine
CARRIERS
Pedigree
Breath Tests
consent for genetic testing
Life Sciences & Biomedicine
medicine.medical_specialty
Genotype
media_common.quotation_subject
education
inherited bleeding disorders
clinical genetic testing
Haemophilia
03 medical and health sciences
Blood Coagulation Disorders, Inherited
genetic reporting
medicine
Humans
Genetic Testing
Good practice
Genetic testing
Chromosome Aberrations
Science & Technology
Health professionals
business.industry
Interpretation (philosophy)
Genetic variants
1103 Clinical Sciences
Pathogenicity
medicine.disease
United Kingdom
Cardiovascular System & Hematology
Family medicine
business
sequence variant terminology
030215 immunology
Subjects
Details
- ISSN :
- 13518216
- Volume :
- 25
- Database :
- OpenAIRE
- Journal :
- Haemophilia
- Accession number :
- edsair.doi.dedup.....820243f5d8806931285d6b1a206cf789
- Full Text :
- https://doi.org/10.1111/hae.13637