Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps
Authors: Teri A. Manolio
Journal: Annals of Internal Medicine (2017)

Editorials1 August 2017Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next StepsTeri A. Manolio, MD, PhDTeri A. Manolio, MD, PhDFrom National Human Genome Research Institute, Bethesda, Maryland.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/M17-1518 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Nine years ago, Feero and colleagues envisioned a world in which genomic sequence data are routinely used to individualize risk assessment for various common diseases (1). They noted a series of barriers to such use, including the high cost of sequencing (about $350 000 in 2008); lack of protections against genetic discrimination; limited information on the clinical effect of genetic risk factors, environmental modifiers, and diverse ancestry; limited familiarity with genomic risk information among clinicians and patients; fear of psychological harm to patients informed of their genetic risks; and lack of evidence of benefit. Since then, several of these barriers have ...References1. Feero WG, Guttmacher AE, Collins FS. The genome gets personal—almost. JAMA. 2008;299:1351-2. [PMID: 18349096] doi:10.1001/jama.299.11.1351 CrossrefMedlineGoogle Scholar2. Genetic Information Nondiscrimination Act of 2008, H.R. 493, 110th Cong. (2008). Accessed at www.govtrack.us/congress/bills/110/hr493 on 11 June 2017. Google Scholar3. MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res. 2017;45:D896-D901. [PMID: 27899670] doi:10.1093/nar/gkw1133 CrossrefMedlineGoogle Scholar4. Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, et al; MedSeq Project. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients. A pilot randomized trial. Ann Intern Med. 2017;167:159-69. doi:10.7326/M17-0188 LinkGoogle Scholar5. Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, et al; MedSeq Project. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014;15:85. [PMID: 24645908] doi:10.1186/1745-6215-15-85 CrossrefMedlineGoogle Scholar6. Vassy JL, McLaughlin HM, McLaughlin HL, MacRae CA, Seidman CE, Lautenbach D, et al. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics. 2015;18:123-9. [PMID: 25612602] doi:10.1159/000370102 CrossrefMedlineGoogle Scholar7. Orlando LA, Wu RR, Myers RA, Buchanan AH, Henrich VC, Hauser ER, et al. Clinical utility of a Web-enabled risk-assessment and clinical decision support program. Genet Med. 2016;18:1020-8. [PMID: 26938783] doi:10.1038/gim.2015.210 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From National Human Genome Research Institute, Bethesda, Maryland.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M17-1518.Corresponding Author: Teri A. Manolio, MD, PhD, National Heart, Lung, and Blood Institute, Rockledge II, Room 8160, 6701 Rockledge Drive, Bethesda, MD 20892; e-mail, [email protected]gov.This article was published at Annals.org on 27 June 2017. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoThe Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients Jason L. Vassy , Kurt D. Christensen , Erica F. Schonman , Carrie L. Blout , Jill O. Robinson , Joel B. Krier , Pamela M. Diamond , Matthew Lebo , Kalotina Machini , Danielle R. Azzariti , Dmitry Dukhovny , David W. Bates , Calum A. MacRae , Michael F. Murray , Heidi L. Rehm , Amy L. McGuire , Robert C. Green , and Metrics Cited byBehavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patientsImagining genomic medicine futures in primary care: General practitioners’ views on mainstreaming genomics in the National Health ServicePersonalized Medicine and the Power of Electronic Health RecordsAdvancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data AnalyticsClinical pharmacogenetics: how do we ensure a favorable future for patients?Social and behavioral science priorities for genomic translation 1 August 2017Volume 167, Issue 3Page: 204-205KeywordsClinical geneticsGenetic counselingGenetic diseasesGenomicsHealth information technologyMedical risk factorsMultidrug resistancePharmacogenomicsPilot studiesPrimary care physicians ePublished: 27 June 2017 Issue Published: 1 August 2017 PDF downloadLoading ...