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Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3.

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Author information

  • 1Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
  • 2Donders Centre of Cognitive Science, Nijmegen, The Netherlands.
  • 3Department of Molecular Genetics, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
  • 4CEQAS, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, England.
  • 5University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
  • 6Centre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium.
  • 7Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
  • 8Department of Medical Genetics, University of Pécs, Pécs, Hungary.
  • 9Institut national de la santé et de la recherche médicale and Université Toulouse III-Paul Sabatier joint Unit 1027, Faculty of Medicine, Toulouse, France.
  • 10Translational Genetics Team, The Cyprus Institute of Neurology & Genetics, Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • 11Centre for Human Genetics, University Hospital Leuven, Department of Human Genetics, KU Leuven, Leuven, Belgium.
  • 12Clinical Genetics & EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
  • 13Unique (Rare Chromosome Disorder Support Group), Oxted, England.
  • 14Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • 15SIBioC Clinical Molecular Diagnostic Training School, Istituto di Biochimica Clinica, Università Cattolica del S. Cuore, Rome, Italy.
  • 16Department of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • 17Center for Genomic Regulation (CRG), Barcelona, Spain.
  • 18Pompeu Fabra University (UPF), Barcelona, Spain.
  • 19Dexeus Women's Health Quiron-Dexeus University Institute, Barcelona, Spain.
  • 20Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • 21Berlin Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • 22Department of Mathematics and Computer Science, Institute for Bioinformatics, Freie Universität Berlin, Berlin, Germany.

Abstract

In 2013, the American College of Medical Genetics (ACMG) examined the issue of incidental findings in whole exome and whole genome sequencing, and introduced recommendations to search for, evaluate and report medically actionable variants in a set of 56 genes. At a debate held during the 2014 European Society for Human Genetics Conference (ESHG) in Milan, Italy, the first author of that paper presented this view in a debate session that did not end with a conclusive vote from the mainly European audience for or against reporting back actionable incidental findings. In this meeting report, we elaborate on the discussions held during a special meeting hosted at the ESHG in 2013 from posing the question 'How to reach a (European) consensus on reporting incidental findings and unclassified variants in diagnostic next generation sequencing'. We ask whether an European consensus exists on the reporting of incidental findings in genome diagnostics, and present a series of key issues that require discussion at both a national and European level in order to develop recommendations for handling incidental findings and unclassified variants in line with the legal and cultural particularities of individual European member states.

PMID:
26036857
PMCID:
PMC4795187
DOI:
10.1038/ejhg.2015.111
[PubMed - indexed for MEDLINE]
Free PMC Article
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