TY - JOUR
T1 - Towards a European consensus for reporting incidental findings during clinical NGS testing
AU - Hehir-Kwa, Jayne Y.
AU - Claustres, Mireille
AU - Hastings, Ros J.
AU - Van Ravenswaaij-Arts, Conny
AU - Christenhusz, Gabrielle
AU - Genuardi, Maurizio
AU - Melegh, Béla
AU - Cambon-Thomsen, Anne
AU - Patsalis, Philippos
AU - Vermeesch, Joris
AU - Cornel, Martina C.
AU - Searle, Beverly
AU - Palotie, Aarno
AU - Capoluongo, Ettore
AU - Peterlin, Borut
AU - Estivill, Xavier
AU - Robinson, Peter N.
N1 - Publisher Copyright:
© 2015 Macmillan Publishers Limited.
PY - 2015/12/1
Y1 - 2015/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84948711756&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2015.111
DO - 10.1038/ejhg.2015.111
M3 - Article
C2 - 26036857
AN - SCOPUS:84948711756
SN - 1018-4813
VL - 23
SP - 1601
EP - 1606
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 12
ER -