The Path to Routine Genomic Screening in Health Care
Authors: Michael F. Murray
Journal: Annals of Internal Medicine (2018)

Ideas and Opinions18 September 2018The Path to Routine Genomic Screening in Health CareMichael F. Murray, MDMichael F. Murray, MDYale School of Medicine, New Haven, Connecticut (M.F.M.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/M18-1722 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail For more than a generation, the idea that an individually tailored health care management plan could be designed on the basis of a person's genetic code has sparked many imaginations. In 1991, Dr. Walter Gilbert, a Nobel laureate who developed DNA sequencing methods, suggested that, "By around 2020, the cost of sequencing will have dropped low enough to allow sequencing an individual's entire DNA. People will come back from a physical examination with their own DNA sequence on a compact disc or its 2020 equivalent" (1). From both a technology and a cost perspective, some are ready to begin to ...References1. Gilbert W. DNA sequencing, today and tomorrow. Hosp Pract (Off Ed). 1991;26:165-9. [PMID: 1918195] CrossrefMedlineGoogle Scholar2. Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, et al. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Genet Med. 2018;20:554-8. [PMID: 29261187] doi:10.1038/gim.2017.145 CrossrefMedlineGoogle Scholar3. Evans JP, Powell BC, Berg JS. Finding the rare pathogenic variants in a human genome. JAMA. 2017;317:1904-5. [PMID: 28492888] doi:10.1001/jama.2017.0432 CrossrefMedlineGoogle Scholar4. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. 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. Genet Med. 2017;19:249-55. [PMID: 27854360] doi:10.1038/gim.2016.190 CrossrefMedlineGoogle Scholar5. Trivedi BP. Medicine's future? Science. 2017;358:436-40. [PMID: 29074750] doi:10.1126/science.358.6362.436 CrossrefMedlineGoogle Scholar6. Geisinger Health. DNA sequencing to become part of Geisinger's routine clinical care. 7 May 2018. Accessed at www.geisinger.org/about-geisinger/news-and-media/news-releases/2018/05/07/12/18/dna-sequencing-to-become-part-of-geisingers-routine-clinical-care on 22 June 2018. Google Scholar7. Haverfield E. Multigene panel screening for hereditary disease risk in healthy individuals [Abstract]. Presented at American College of Medical Genetics and Genomics Annual Meeting, Charlotte, North Carolina, 12 April 2018. Abstract no. 666. Google Scholar8. Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, et al. A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort. 3 August 2017. Accessed at www.biorxiv.org/content/early/2017/08/03/166975 on 22 June 2018. doi:10.1101/166975 Google Scholar9. Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, et al. Health-care referrals from direct-to-consumer genetic testing. Genet Test Mol Biomarkers. 2010;14:817-9. [PMID: 20979566] doi:10.1089/gtmb.2010.0051 CrossrefMedlineGoogle Scholar10. Richards SE. Can Genetic Counselors Keep Up With 23andMe? The Atlantic. 22 May 2018. Accessed at www.theatlantic.com/health/archive/2018/05/can-genetic-counselors-keep-up-with-23andme/560837 on 22 June 2018. Google Scholar Author, Article, and Disclosure InformationAffiliations: Yale School of Medicine, New Haven, Connecticut (M.F.M.)Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M18-1722.Corresponding Author: Michael F. Murray, MD, Department of Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520; e-mail, michael.[email protected]edu.Author Contributions: Conception and design: M.F. Murray.Drafting of the article: M.F. Murray.Critical revision of the article for important intellectual content: M.F. Murray.Final approval of the article: M.F. Murray.Administrative, technical, or logistic support: M.F. Murray.This article was published at Annals.org on 31 July 2018. 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