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.

Hehir Kwa, J., Claustres, M., Hastings, R., Van Ravenswaaij Arts, C., Christenhusz, G., Genuardi, M., Melegh, B., Cambon Thomsen, A., Patsalis, P., Vermeesch, J., Cornel, M., Serle, B., Palotie, A., Capoluongo, E. D., Peterlin, B., Estivill, X., Robinson, P., Towards a European consensus for reporting incidental findings during clinical NGS testing, <<EUROPEAN JOURNAL OF HUMAN GENETICS>>, 2015; (Giugno): 1601-1606 [http://hdl.handle.net/10807/70447]

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

Genuardi, Maurizio;Capoluongo, Ettore Domenico;
2015

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.
eng
Hehir Kwa, J., Claustres, M., Hastings, R., Van Ravenswaaij Arts, C., Christenhusz, G., Genuardi, M., Melegh, B., Cambon Thomsen, A., Patsalis, P., Vermeesch, J., Cornel, M., Serle, B., Palotie, A., Capoluongo, E. D., Peterlin, B., Estivill, X., Robinson, P., Towards a European consensus for reporting incidental findings during clinical NGS testing, <>, 2015; (Giugno): 1601-1606 [http://hdl.handle.net/10807/70447]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/70447
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 66
  • ???jsp.display-item.citation.isi??? 59
social impact