Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel

Human Mutation
Danya F VearsPascal Borry

Abstract

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported. Little research has been conducted exploring which of these variants are reported in practice. Twenty-six interviews were conducted with 27 laboratory personnel, representing 24 laboratories in Europe (12), Canada (five), and Australasia (Seven) to explore their reporting practices. There is considerable variation between laboratories in the reporting of UF. While some limit their reporting to findings that are relevant to the clinical question, others report UF to varying degrees. In addition, most laboratory personnel interviewed said that their laboratories do not actively search for secondary findings in disease-causing genes unrelated to the clinical question, such as those suggested by the Ameri...Continue Reading

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Citations

Sep 28, 2017·Journal of Community Genetics·Pascal BorryHeike Felzmann
Feb 2, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kurt D ChristensenKatrina A B Goddard
Dec 1, 2017·European Journal of Human Genetics : EJHG·D F VearsP Borry
Aug 10, 2018·European Journal of Human Genetics : EJHG·Pascal PujolDavid Geneviève
Jul 5, 2018·European Journal of Human Genetics : EJHG·Marlies SaelaertIgnaas Devisch
Oct 31, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Danya F VearsKoen L van Gassen
Nov 21, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Martin VuMaarten J IJzerman
Jun 12, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lauren N GalbraithKurt D Christensen

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