Journal article

Analysis of laboratory reporting practices using a quality assessment of a virtual patient

Danya F Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L van Gassen

Genetics in Medicine | SPRINGERNATURE | Published : 2020


PURPOSE: Existing research suggests that while some laboratories report variants of uncertain significance, unsolicited findings (UF), and/or secondary findings (SF) when performing exome sequencing, others do not. METHODS: To investigate reporting differences, we created virtual patient-parent trio data by merging variants from patients into "normal" exomes. We invited laboratories worldwide to analyze the data along with patient phenotype information (developmental delay, dysmorphic features, and cardiac hypertrophy). Laboratories issued a diagnostic exome report and completed questionnaires to explain their rationale for reporting (or not reporting) each of the eight variants integrated. ..

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University of Melbourne Researchers


Funding Acknowledgements

D.F.V. is a Postdoctoral Research Fellow of the Research Foundation-Flanders (FWO Vlaanderen) and also acknowledges the infrastructure funding received from the Victorian State Government through the Operational Infrastructure Support (OIS) Program.