Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

Research output: Contribution to journalArticle

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Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. / de Wert, Guido; Dondorp, Wybo; Clarke, Angus; Dequeker, Elisabeth M.C.; Cordier, Christophe; Deans, Zandra; van El, Carla G.; Fellmann, Florence; Hastings, Ros; Hentze, Sabine; Howard, Heidi; Macek, Milan; Mendes, Alvaro; Patch, Chris; Rial-Sebbag, Emmanuelle; Stefansdottir, Vigdis; Cornel, Martina C.; Forzano, Francesca.

In: European Journal of Human Genetics, 22.11.2020.

Research output: Contribution to journalArticle

Harvard

de Wert, G, Dondorp, W, Clarke, A, Dequeker, EMC, Cordier, C, Deans, Z, van El, CG, Fellmann, F, Hastings, R, Hentze, S, Howard, H, Macek, M, Mendes, A, Patch, C, Rial-Sebbag, E, Stefansdottir, V, Cornel, MC & Forzano, F 2020, 'Opportunistic genomic screening. Recommendations of the European Society of Human Genetics', European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-00758-w

APA

de Wert, G., Dondorp, W., Clarke, A., Dequeker, E. M. C., Cordier, C., Deans, Z., van El, C. G., Fellmann, F., Hastings, R., Hentze, S., Howard, H., Macek, M., Mendes, A., Patch, C., Rial-Sebbag, E., Stefansdottir, V., Cornel, M. C., & Forzano, F. (2020). Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-00758-w

CBE

de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F. 2020. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics. https://doi.org/10.1038/s41431-020-00758-w

MLA

Vancouver

Author

de Wert, Guido ; Dondorp, Wybo ; Clarke, Angus ; Dequeker, Elisabeth M.C. ; Cordier, Christophe ; Deans, Zandra ; van El, Carla G. ; Fellmann, Florence ; Hastings, Ros ; Hentze, Sabine ; Howard, Heidi ; Macek, Milan ; Mendes, Alvaro ; Patch, Chris ; Rial-Sebbag, Emmanuelle ; Stefansdottir, Vigdis ; Cornel, Martina C. ; Forzano, Francesca. / Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. In: European Journal of Human Genetics. 2020.

RIS

TY - JOUR

T1 - Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

AU - de Wert, Guido

AU - Dondorp, Wybo

AU - Clarke, Angus

AU - Dequeker, Elisabeth M.C.

AU - Cordier, Christophe

AU - Deans, Zandra

AU - van El, Carla G.

AU - Fellmann, Florence

AU - Hastings, Ros

AU - Hentze, Sabine

AU - Howard, Heidi

AU - Macek, Milan

AU - Mendes, Alvaro

AU - Patch, Chris

AU - Rial-Sebbag, Emmanuelle

AU - Stefansdottir, Vigdis

AU - Cornel, Martina C.

AU - Forzano, Francesca

PY - 2020/11/22

Y1 - 2020/11/22

N2 - If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings—so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

AB - If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings—so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

U2 - 10.1038/s41431-020-00758-w

DO - 10.1038/s41431-020-00758-w

M3 - Article

C2 - 33223530

AN - SCOPUS:85096376587

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1476-5438

ER -