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

European Journal of Human Genetics : EJHG
Guido de WertEuropean Society of Human Genetics

Abstract

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 ...Continue Reading

References

Feb 27, 1971·Lancet·J T Hart
Jan 1, 1971·British Medical Bulletin·A L Cochrane, W W Holland
Aug 26, 2004·JAMA : the Journal of the American Medical Association·Hartmut P H NeumannUNKNOWN European-American Paraganglioma Study Group
Apr 29, 2008·Bulletin of the World Health Organization·Anne AndermannVéronique Déry
Mar 12, 2009·European Journal of Human Genetics : EJHG·Pascal BorryUNKNOWN Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG)
Dec 7, 2010·Journal of Health and Social Behavior·Stefan Timmermans, Mara Buchbinder
May 17, 2013·European Journal of Human Genetics : EJHG·Carla G van ElUNKNOWN ESHG Public and Professional Policy Committee
May 21, 2013·Science·Amy L McGuireRobert C Green
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Jul 6, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN American College of Medical Genetics and Genomics
Aug 3, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wylie BurkeRon Zimmern
Sep 7, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Neil A Holtzman
Jul 24, 2014·Current Opinion in Allergy and Clinical Immunology·Yann JolyBartha M Knoppers
Sep 25, 2014·European Journal of Human Genetics : EJHG·Franziska SeverinUNKNOWN EuroGentest and ESHG/PPPC Priority Consortium
Jan 30, 2015·European Journal of Human Genetics : EJHG·Heidi Carmen HowardUNKNOWN endorsed by the European Society of Human Genetics; the P3G International Paediatric Platform; the Human Genome Organisation
May 9, 2015·Journal of Medical Genetics·Kym BoycottUNKNOWN Canadian College of Medical Geneticists
Jan 23, 2016·Science Translational Medicine·Eric Vallabh MinikelDaniel G MacArthur
Aug 18, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Roddy WalshHugh Watkins
Aug 18, 2016·The New England Journal of Medicine·Arjun K ManraiIsaac S Kohane
Nov 5, 2016·Mayo Clinic Proceedings·Jaeger P AckermanMichael J Ackerman
Mar 28, 2017·JAMA : the Journal of the American Medical Association·Kathleen McGlone WestWylie Burke
Jun 28, 2017·Prenatal Diagnosis·Sunayna BestLyn S Chitty
Aug 5, 2017·Journal of Community Genetics·Amy R BentleyCharles N Rotimi
Sep 5, 2017·Journal of Community Genetics·J A M van der GiessenM G E M Ausems
May 24, 2018·The New England Journal of Medicine·Shekinah N C Elmore
Jun 20, 2018·BMJ : British Medical Journal·Thomas C Booth
Aug 10, 2018·European Journal of Human Genetics : EJHG·Pascal PujolDavid Geneviève
Oct 6, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·M Ragan HartLucia A Hindorff
Oct 7, 2018·European Journal of Human Genetics : EJHG·Lonneke Haer-WigmanHelger G Yntema
Oct 13, 2018·European Journal of Human Genetics : EJHG·Daniele CarrieriUNKNOWN European Society of Human Genetics
Jan 7, 2019·Mayo Clinic Proceedings·Kyle B BrothersRobert C Green
Apr 26, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Board of Directors
May 6, 2019·Orphanet Journal of Rare Diseases·Bernarda ZamoraMartina Garau
Jun 13, 2019·European Journal of Human Genetics : EJHG·Bertrand IsidorMarie Vincent
Jun 27, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert L NussbaumSwaroop Aradhya

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Citations

Feb 28, 2021·European Journal of Human Genetics : EJHG·Vyne van der SchootAnke J M Oerlemans
Feb 24, 2021·European Journal of Human Genetics : EJHG·Anke WoudstraGuido de Wert
Feb 13, 2021·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Melissa A KellyNatasha T Strande
May 29, 2021·Therapeutic Innovation & Regulatory Science·Timothé MénardChristopher Ganter
Jun 15, 2021·Frontiers in Genetics·Ziga I RemecMarusa Debeljak
Jul 17, 2021·Genome Medicine·Anna C F LewisRobert C Green
Aug 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie C SappLeslie G Biesecker

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Software Mentioned

ACMG
OGS

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