Abstract

Results 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.

Details

Title
Recommendations for reporting results of diagnostic genomic testing
Author
Deans, Zandra C. 1   VIAFID ORCID Logo  ; Ahn, Joo Wook 2 ; Carreira, Isabel M. 3 ; Dequeker, Elisabeth 4   VIAFID ORCID Logo  ; Henderson, Mick 5 ; Lovrecic, Luca 6 ; Õunap, Katrin 7 ; Tabiner, Melody 8 ; Treacy, Rebecca 1 ; van Asperen, Christi J. 9 

1  Little France Crescent, GenQA, Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK (GRID:grid.418716.d) (ISNI:0000 0001 0709 1919) 
2  Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge University Hospitals Genomic Laboratory, Cambridge, UK (GRID:grid.24029.3d) (ISNI:0000 0004 0383 8386) 
3  University of Coimbra, Faculty of Medicine, Cytogenetics and Genomics Laboratory, iCBR/CIMAGO, Center for Innovative Biomedicine and Biotechnology, Coimbra, Portugal (GRID:grid.8051.c) (ISNI:0000 0000 9511 4342) 
4  University of Leuven, Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit, Leuven, Belgium (GRID:grid.5596.f) (ISNI:0000 0001 0668 7884) 
5  St James University Hospital, ERNDIM, Biochemical Genetics, Specialist Laboratory Medicine, Leeds, UK (GRID:grid.443984.6) (ISNI:0000 0000 8813 7132) 
6  University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia (GRID:grid.29524.38) (ISNI:0000 0004 0571 7705) 
7  Tartu University Hospital, Department of Clinical Genetics, United Laboratories, Tartu, Estonia (GRID:grid.412269.a) (ISNI:0000 0001 0585 7044); University of Tartu, Institute of Clinical Medicine, Tartu, Estonia (GRID:grid.10939.32) (ISNI:0000 0001 0943 7661) 
8  Oxford University Hospitals NHS Foundation Trust, Headley Way, GenQA, John Radcliffe Hospital, Oxford, United Kingdom (GRID:grid.410556.3) (ISNI:0000 0001 0440 1440) 
9  Leiden University Medical Center, Department of Clinical Genetics, Leiden, the Netherlands (GRID:grid.10419.3d) (ISNI:0000000089452978) 
Pages
1011-1016
Publication year
2022
Publication date
Sep 2022
Publisher
Nature Publishing Group
ISSN
10184813
e-ISSN
14765438
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41431-022-01091-0
ProQuest document ID
2708891090
Copyright
© The Author(s) 2022. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.