Understanding the human genome and its interaction with the environment has the potential to change medical care by tailoring interventions to the precise needs of the individual patient. Little of this knowledge is currently being used in care. There are well recognized barriers to its use including lack of sufficient evidence of benefit, inadequate education of the provider workforce, concerns about privacy and reimbursement. However, there are also gaps in the current healthcare delivery system, particularly between traditional public health departments and clinical care that impede the translation of knowledge into practice. While this problem is not limited to genomics, the purpose of this article is to identify these gaps and propose potential solutions using examples from genomic medicine from the perspective of the United States healthcare system.

Hall SS: Revolution postponed. Sci Am 2010;303:60–67.
Botkin JR, Teutsch SM, Kaye CI, Hayes M, Haddow JE, Bradley LA, Szegda K, Dotson WD; EGAPP Working Group: Outcomes of interest in evidence-based evaluations of genetic tests. Genet Med 2010;12:228–235.
Guttmacher AE, Porteous ME, McInerney JD: Educating health-care professionals about genetics and genomics. Nat Rev Genet 2007;8:151–157.
Johnson JD, Case DO, Andrews JE, Allard SL: Genomics–the perfect information-seeking research problem. J Health Commun 2005;10:323–329.
Silvers A, Stein MA: Human rights and genetic discrimination: protecting genomics’ promise for public health. J Law Med Ethics 2003;31:377–389.
Williams MS: Insurance coverage for pharmacogenomic testing. Per Med 2007;4:479–487.
Schully SD, Benedicto CB, Gillanders EM, Wang SS, Khoury MJ: Translational research in cancer genetics: the road less traveled. Public Health Genomics 2011;14:1–8.
Committee on Quality of Health Care in America, Institute of Medicine: Crossing the Quality Chasm: A New Health System for the 21st Century. Washington, National Academy Press, 2001.
Thomson R, Bhopal R: Improving quality of health care: the role of public health medicine. Qual Health Care 1993;2:35–39.
Bryant KG, Horns KM, Longo N, Schiefelbein J: A primer on newborn screening. Adv Neonatal Care 2004;4:306–317.
Therrell BL, Lloyd-Puryear MA, Mann MY: Understanding newborn screening system issues with emphasis on cystic fibrosis screening. J Pediatr 2005;147(suppl 3):S6–10.
U.S. Department of Health and Human Services. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/about/saveslives.pdf (accessed October 20, 2011).
Health Resource and Service Administration: Baby’s First Test. http://www.nbsclearinghouse.org (accessed August 18, 2011).
U.S. Preventive Services Task Force: Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility. http://www.uspreventiveservicestaskforce.org/uspstf/uspsbrgen.htm (accessed August 18, 2011).
AETNA News Releases: http://www.aetna.com/news/newsReleases/2010/0915_BRCATesting.html (accessed August 18, 2011).
Duquette D, Langbo C, Bach J, Kleyn M: Michigan BioTrust for Health: public support for using dried blood spot samples for health research. Public Health Genomics 2012;15:146–155.
Teng K: Pharmacogenomics for the primary care provider: why should we care? Cleve Clin J Med 2011;78:241–242.
Becquemont L, Alfirevic A, Amstutz U, Brauch H, Jacqz-Aigrain E, Laurent-Puig P, Molina MA, Niemi M, Schwab M, Somogyi AA, Thervet E, Maitland-van der Zee AH, van Kuilenburg AB, van Schaik RH, Verstuyft C, Wadelius M, Daly AK: Practical recommendations for pharmacogenomics-based prescription: 2010 ESF-UB Conference on Pharmacogenetics and Pharmacogenomics. Pharmacogenomics 2011;12:113–124.
Lesko LJ, Zineh I: DNA, drugs and chariots: on a decade of pharmacogenomics at the US FDA. Pharmacogenomics 2010;11:507–512.
Deverka PA: Pharmacogenomics, evidence, and the role of payers. Public Health Genomics 2009;12:149–157.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP). http://www.egappreviews.org/ (accessed August 18, 2011).
Evaluation of Genomic Applications in Practice and Prevention (EGAPP). http://www.egappreviews.org/recommendations/index.htm (accessed August 18, 2011).
Pharmacogenomics Knowledge Base. http://www.pharmgkb.org/ (accessed August 18, 2011).
Pharmacogenomics Knowledge Base. http://www.pharmgkb.org/contributors/consortia/cpic_profile.jsp (accessed August 18, 2011).
Relling MV, Klein TE: CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther 2011;89:464–467.
Scott SA, Sangkuhl K, Gardner EE, Stein CM, Hulot JS, Johnson JA, Roden DM, Klein TE, Shuldiner AR; Clinical Pharmacogenetics Implementation Consortium: Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. Clin Pharmacol Ther 2011;90:328–332.
Relling MV, Gardner EE, Sandborn WJ, Schmiegelow K, Pui CH, Yee SW, Stein CM, Carrillo M, Evans WE, Klein TE; Clinical Pharmacogenetics Implementation Consortium: Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther 2011;89:387–391.
Epstein RS, Moyer TP, Aubert RE, O Kane DJ, Xia F, Verbrugge RR, Gage BF, Teagarden JR: Warfarin genotyping reduces hospitalization rates results from the MM- WES (Medco-Mayo Warfarin Effectiveness study). J Am Coll Cardiol 2010;55:2804–2812.
Epstein RS, Teagarden JR: Comparative effectiveness research and personalized medicine: catalyzing or colliding? Pharmacoeconomics 2010;28:905–913.
U.S. Department of Health and Human Services. Centers for Medicare and Medicaid Services. http://www.cms.gov/medicare-coverage-database/details/ncd-details.aspx?NCDId=333&ncdver=1&bc=BAAAgAAAAAAA& (accessed August 18, 2011).
U.S. Department of Health and Human Services. Genetics Education and Training. http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_education_report_2011.pdf (accessed August 22, 2011).
Kemper AR, Trotter TL, Lloyd-Puryear MA, Kyler P, Feero WG, Howell RR: A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. Genet Med 2010;12:77–80.
Hoffman MA, Williams MS: Electronic medical records and personalized medicine. Hum Genet 2011;130:33–39.
Federal Register. http://edocket.access.gpo.gov/2010/pdf/2010-17207.pdf (accessed August 22, 2011).
Ullman-Cullere MH, Mathew JP: Emerging landscape of genomics in the Electronic Health Record for personalized medicine. Hum Mutat 2011;32:512–516.
National Human Genome Research Institute: Electronic Medical Records and Genomics (eMERGE) Network. http://www.genome.gov/27540473 (accessed August, 22, 2011).
HMO Research Network. http://www.hmoresearchnetwork.org/about.htm (accessed August 22, 2011).
The NIH Common Fund: HMO Collaboratory. http://commonfund.nih.gov/hmocollaboratory/ (accessed August 22, 2011).
Perrin JM, Knapp AA, Browning MF, Comeau AM, Green NS, Lipstein EA, Metterville DR, Prosser L, Queally D, Kemper AR: An evidence development process for newborn screening. Genet Med 2010;12:131–134.
U.S. Department of Health and Human Services: Recommended Uniform Screening Panel of the Secretary’s Advisory Committee on heritable disorders in newborns and children. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/ (accessed October 20, 2011).
Khoury MJ, Berg A, Coates R, Evans J, Teutsch SM, Bradley LA: The evidence dilemma in genomic medicine. Health Aff (Millwood) 2008;27:1600–1611.
Health Information Technology for Economic and Clinical Health. http://www.hhs.gov/ocr/privacy/hipaa/understanding/coveredentities/hitechact.pdf (accessed August 22, 2011).
Kuperman GJ: Health-information exchange: why are we doing it, and what are we doing? J Am Med Inform Assoc 2011;18:678–682.
Ginsburg GS, Willard HF: Genomic and personalized medicine: foundations and applications. Transl Res 2009;154:277–287.
Swensen SJ, Meyer GS, Nelson EC, Hunt GC Jr, Pryor DB, Weissberg JI, Kaplan GS, Daley J, Yates GR, Chassin MR, James BC, Berwick DM: Cottage industry to postindustrial care – the revolution in health care delivery. N Engl J Med 2010;362:e12.
Dove JT, Weaver WD, Lewin J: Health care delivery system reform: accountable care organizations. J Am Coll Cardiol 2009;54:985–988.
James BC, Savitz LA: How Intermountain trimmed health care costs through robust quality improvement efforts. Health Aff (Millwood) 2011;30:1185–1191.
Gudgeon JM, Williams JL, Burt RW, Samowitz WS, Snow GL, Williams MS: Lynch Syndrome Screening Implementation: business analysis by a healthcare system. Am J Manag Care 2011;17:e288–300.
Pauker SG, Kassirer JP: Decision analysis. N Engl J Med 1987;316:250–258.
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