Browse our library below to see more resources on Incidental Findings
Europe
A practical checklist for return of results from genomic research in the European context (2023)
Vears, D.F., Hallowell, N., Bentzen, H.B. et al. A practical checklist for return of results from genomic research in the European context. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01328-6
Geiger, J., Fuchs, J., Starke, M. et al. GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01299-8
European Society of Human Genetics (ESHG) Recommendations for reporting results of diagnostic genomic testing (2022)
Deans, Z.C., Ahn, J.W., Carreira, I.M. et al. Recommendations for reporting results of diagnostic genomic testing. Eur J Hum Genet 30, 1011–1016 (2022). https://doi.org/10.1038/s41431-022-01091-0
Recommendations of the European Society of Human Genetics (ESHG) on Opportunistic genomic screening (2021)
de Wert, G., Dondorp, W., Clarke, A. et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 29, 365–377 (2021). https://doi.org/10.1038/s41431-020-00758-w
European Society of Human Genetics (ESHG) Guidelines for diagnostic next-generation sequencing (2016)
Matthijs, G., Souche, E., Alders, M. et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 24, 2–5 (2016). https://doi.org/10.1038/ejhg.2015.226
European Society of Human Genetics (ESHG) Recommendations regarding responsible implementation of expanded carrier screening (2016)
Henneman, L., Borry, P., Chokoshvili, D. et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 24, e1–e12 (2016). https://doi.org/10.1038/ejhg.2015.271
European Society of Human Genetics (ESHG) Meeting Report “Towards a European consensus for reporting incidental findings during clinical NGS testing” in response to ACMG Guidelines (2015)
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
European Society of Human Genetics (ESHG) Recommendations on Whole-genome sequencing in health care (2013)
van El, C., Cornel, M., Borry, P. et al. Whole-genome sequencing in health care. Eur J Hum Genet 21, 580–584 (2013). https://doi.org/10.1038/ejhg.2013.46
Background Document to the ESHG recommendations on genetic testing and common disorders: “Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities” (2011)
Becker, F., van El, C., Ibarreta, D. et al. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Eur J Hum Genet 19, S6–S44 (2011). https://doi.org/10.1038/ejhg.2010.249
EuroGentest Recommendations for genetic counselling related to genetic testing (June 17, 2009)
Recommendations of the European Society of Human Genetics (ESHG) on Genetic testing in asymptomatic minors (2009)
Recommendations of the European Society of Human Genetics. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur J Hum Genet 17, 720–721 (2009). https://doi.org/10.1038/ejhg.2009.26
US
The Report by the US Presidential Commission on “Ethical Management of Incidental and Secondary Findings in the Clinical, Research and Direct-to-Consumer Contexts” (2013)
American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental findings in clinical exome and genome sequencing (2013)
ACMG guidelines SF v1: Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., . . . Biesecker, L. G. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565-574. doi:10.1038/gim.2013.73
American College of Medical Genetics and Genomics (ACMG) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0)
ACMG guidelines v2: Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., . . . on behalf of the, A. S. F. M. W. G. (2017). Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine, 19(2), 249-255. doi:10.1038/gim.2016.190