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.
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Acknowledgements
We thank all participants of the survey for providing useful insight into how clinical NGS testing has been implemented in their laboratories. Further a special thanks to Wendy Jones for the useful discussions. The research leading to these results has partly received funding from the European Community’s Seventh Framework Programme CAGEKID, Cancer genomics of the kidney, GA N° 241669; ESGI, European Sequencing and Genotyping Infrastructure GA N° 262055; GEUVADIS, Sharing capacity across Europe in high-throughput sequencing technology to explore genetic variation in health and disease, GA N° 261123; 3 Gb-TEST, Introducing diagnostic applications of ‘3 Gb-testing’ in human genetics, GA N° 602269). PNR is supported by a grant from the Bundesministerium für Bildung und Forschung (BMBF project number 0313911).
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Hehir-Kwa, J., Claustres, M., Hastings, R. et al. Towards a European consensus for reporting incidental findings during clinical NGS testing. Eur J Hum Genet 23, 1601–1606 (2015). https://doi.org/10.1038/ejhg.2015.111
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DOI: https://doi.org/10.1038/ejhg.2015.111
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