Abstract
AbstractResults of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to misinterpretation. As genomic testing has continued to evolve over the past decade, the European Society of Human Genetics (ESHG) recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) published in 2014 have been reviewed and updated to provide the genomic community with guidance on reporting unambiguous results.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. International Organization for Standardization (ISO), ISO 15189:2012 Medical laboratories – Particular requirements for quality and competence. 2012, ISO: Geneva.
2. Claustres, M, Kožich, V, Dequeker, E, Fowler, B, Hehir-Kwa, JY, Miller K, et al. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet. 2014;22:160-70.
3. Aumann K, Kayser G, Amann D, Bronsert P, Hauschke D, Palade E, et al. The format type has impact on the quality of pathology reports of oncological lung resection specimens. Lung Cancer. 2013;81:382–87.
4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
5. Organisation for Economic Co-operation and Development, OECD guidelines for quality assurance in molecular genetic testing. 2007, OECD: Paris.
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