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

Jayne Y. Hehir-Kwa, Mireille Claustres, Ros J. Hastings, Conny Van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch, Martina C. Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier P. Estivill, Peter N. Robinson

Research output: Contribution to journalArticle

48 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1601-1606
Number of pages6
JournalEuropean Journal of Human Genetics
Volume23
Issue number12
DOIs
Publication statusPublished - 1 Dec 2015
Externally publishedYes

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Incidental Findings
Medical Genetics
Genome
Exome
Italy
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Hehir-Kwa, J. Y., Claustres, M., Hastings, R. J., Van Ravenswaaij-Arts, C., Christenhusz, G., Genuardi, M., ... Robinson, P. N. (2015). Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics, 23(12), 1601-1606. https://doi.org/10.1038/ejhg.2015.111

Towards a European consensus for reporting incidental findings during clinical NGS testing. / Hehir-Kwa, Jayne Y.; Claustres, Mireille; Hastings, Ros J.; Van Ravenswaaij-Arts, Conny; Christenhusz, Gabrielle; Genuardi, Maurizio; Melegh, Béla; Cambon-Thomsen, Anne; Patsalis, Philippos; Vermeesch, Joris; Cornel, Martina C.; Searle, Beverly; Palotie, Aarno; Capoluongo, Ettore; Peterlin, Borut; Estivill, Xavier P.; Robinson, Peter N.

In: European Journal of Human Genetics, Vol. 23, No. 12, 01.12.2015, p. 1601-1606.

Research output: Contribution to journalArticle

Hehir-Kwa, JY, Claustres, M, Hastings, RJ, Van Ravenswaaij-Arts, C, Christenhusz, G, Genuardi, M, Melegh, B, Cambon-Thomsen, A, Patsalis, P, Vermeesch, J, Cornel, MC, Searle, B, Palotie, A, Capoluongo, E, Peterlin, B, Estivill, XP & Robinson, PN 2015, 'Towards a European consensus for reporting incidental findings during clinical NGS testing', European Journal of Human Genetics, vol. 23, no. 12, pp. 1601-1606. https://doi.org/10.1038/ejhg.2015.111
Hehir-Kwa JY, Claustres M, Hastings RJ, Van Ravenswaaij-Arts C, Christenhusz G, Genuardi M et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. European Journal of Human Genetics. 2015 Dec 1;23(12):1601-1606. https://doi.org/10.1038/ejhg.2015.111
Hehir-Kwa, Jayne Y. ; Claustres, Mireille ; Hastings, Ros J. ; Van Ravenswaaij-Arts, Conny ; Christenhusz, Gabrielle ; Genuardi, Maurizio ; Melegh, Béla ; Cambon-Thomsen, Anne ; Patsalis, Philippos ; Vermeesch, Joris ; Cornel, Martina C. ; Searle, Beverly ; Palotie, Aarno ; Capoluongo, Ettore ; Peterlin, Borut ; Estivill, Xavier P. ; Robinson, Peter N. / Towards a European consensus for reporting incidental findings during clinical NGS testing. In: European Journal of Human Genetics. 2015 ; Vol. 23, No. 12. pp. 1601-1606.
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