OPHG Publications


This page shows a list of yearly publications by the CDC Office of Public Health Genomics. For all publications in genomics in various CDC programs, please search our Public Health Genomics Knowledge Base.


1. Khoury MJ, Bedrosian S, Gwinn M, Little J, Ioannidis JP (eds). Human Genome Epidemiology (2nd ed.): Building the evidence for using genetic information to improve health and prevent disease. Oxford University Press, New York, 2010

2. Khoury MJ, Little J., Burke W (eds). Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, New York, 2004

3. Khoury MJ, Burke W, Thompson E (eds). Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, New York, 2000

4. Muin J. Khoury, Terri H. Beaty and Bernice H. Cohen. Fundamentals of Genetic EpidemiologyExternal. Oxford University Press, New York, 1993


OPHG Scientific Publications

Peer-reviewed scientific articles written by staff in CDC’s Office of Public Health Genomics and other researchers and public health professionals. You can perform a search of the CDC-Authored Genomics Publication Database of the Public Health Genomics Knowledge Base for specific topics.


  1. Auffray C, Griffin JL, Khoury MJ, Lupski JR, Schwab M. Ten years of Genome Medicine.External Genome Med. 2019 Feb 15;11(1):7.
  2. Gwinn M, MacCannell D, Armstrong GL. Next-Generation Sequencing of Infectious Pathogens.External JAMA. 2019 Feb 14.
  3. Hsu YY, Clyne M, Wei CH, Khoury MJ, Lu Z. Using deep learning to identify translational research in genomic medicine beyond bench to bedside.External Database (Oxford). 2019 Jan 1;2019.
  4. Khoury MJ. Precision Medicine vs Preventive Medicine.External JAMA. 2019 Jan 29;321(4):406.


  5. Allen CG, Andersen B, Khoury MJ, Roberts MC. Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis.External  Public Health Genomics. 2018 Nov 22:1-7.
  6. Allen CG, Roberts M, Andersen B, Khoury MJ.  Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome.External  J Cancer Educ. 2018 Dec 3.
  7. Bucholz EM, Rodday AM, Kolor K, Khoury MJ, de Ferranti SD. Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014).External Circulation. 2018 Mar 26. pii: CIRCULATIONAHA.117.032321.
    visual abstract for Treating Familial Hypercholesterolemia to Prevent Heart Disease
  8. Feng LB, Grosse SD, Green RF, Fink AK, Sawicki GS. Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis–Related Hospitalizations.External Health Affairs. 2018 May
  9. Green RF, Ari M, Kolor K, Dotson WD, Bowen S, Habarta N, Rodriguez JL, Richardson LC, Khoury MJ. Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.External Genet Med. 2018 Jun 15.
  10. Ioannidis JPA, Khoury MJ. Evidence Based Medicine and Big Genomic Data.External Hum Mol Genet. 2018 Feb 20.
  11. Kaphingst KA, Peterson E, Zhao J, Gaysynsky A, Elrick A, Hong SJ, Krakow M, Pokharel M, Ratcliff CL, Klein WMP, Khoury MJ, Chou WS. Cancer communication research in the era of genomics and precision medicine: a scoping review.External Genet Med. 2018 Dec 21.
  12. Khoury MJ, Bowen MS, Clyne M, Dotson WD, Gwinn ML, Green RF, Kolor K, Rodriguez JL, Wulf A, Yu W. From public health genomics to precision public health: a 20-year journey.External Genet Med. 2018 Jun;20(6):574-582.
  13. Khoury  M, Feero WG, Chambers DA, Brody LE, Aziz N, Green RC, Janssens AC, Murray MF, Rodriguez LL, Rutter JL, Schully SD, Winn DM, Mensah GA.  A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.External PLoS Medicine, 2018 Aug 2.
  14. Lam TK, Lavigne JA, Qadir X, Khoury MJ, Schully SD. Training the Twenty-First Century Cancer Epidemiologist.External J Cancer Educ. 2018 Sep 24.
  15. Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders.External Genet Med. 2018 Sep 10.
  16. Moonesinghe R, Beckles GLA, Liu T, Khoury MJ.The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009-2014.External Genet Med. 2018 Jan 25
  17. Michael F. Murray, James P. Evans, Misha Angrist, Kee Chan,Wendy R. Uhlmann, Debra Lochner Doyle, Stephanie M. Fullerton, Theodore G. Ganiats, Jill Hagenkord, Sara Imhof, Sun Hee Rim, Leonard Ortmann, Nazneen Aziz, W. David Dotson, Ellen Matloff, Kristen Young, Kimberly Kaphingst, Angela Bradbury, Joan Scott, Catharine Wang, Ann Zauber, Marissa Levine, Bruce Korf, Debra G. Leonard, Catherine Wicklund, George Isham, Muin J. Khoury.  Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. National Academy of Medicine,External Dec 3, 2018
  18. Peterson EB, Chou WS, Gaysynsky A, Krakow M, Elrick A, Khoury MJ, Kaphingst KA. Communication of cancer-related genetic and genomic information: A landscape analysis of reviews.External Transl Behav Med. 2018 Jan 29;8(1):59-70.
  19. Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG, Green RF, Hurst GM, Philp AR, Ricker CN, Sturm AC. Trepanier AM, Williams JL, Zierhut HA, Wilemon KA, Hampel H. Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature.External Health Affairs. 2018 May


  20. Berse B, Lynch JA, Bowen S, Grosse SD. In Reference to: “Cost and Utility of Thrombophilia Testing”.External  J Hosp Med. 2017 Sep;12(9):783.
  21. Chen Z, Kolor K, Grosse SD, Rodriguez JL, Lynch JA, Green RF, Dotson WD, Bowen MS, Khoury MJ. Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014External. Genet Med. 2017 Sep 21.
  22. Goldfeder RL, Wall DP, Khoury MJ, Ioannidis JPA, Ashley EA. Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.External Am J Epidemiol. 2017 Oct 15;186(8):1000-1009.
  23. Gwinn M, MacCannell DR, Khabbaz RF. Integrating advanced molecular technologies into public health.External J Clin Microbiol. 2017 Mar;55(3):703-714.
  24. Khoury MJ. Editorial: Emergence of Gene-Environment Interaction Analysis in Epidemiologic Research.External Am J Epidemiol.. 2017 Oct 1;186(7):751-752.
  25. Khoury MJ. No Shortcuts on the Long Road to Evidence-Based Genomic Medicine.External JAMA. 2017 Jul 4;318(1):27-28.
  26. Khoury MJ, Galea S. Evaluating Precision Medicine’s Ability to Improve Population Health-Reply.External JAMA. 2017 Jan 24;317(4):441.
  27. Knowles JW, Rader DJ, Khoury MJ. Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.External JAMA. 2017 Jul 25;318(4):381-382.
  28. Kolor K, Chen Z, Grosse SD, Rodriguez JL, Green RF, Dotson WD, Bowen MS, Lynch JA, Khoury MJ. BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas – United States, 2009-2014.External MMWR Surveill Summ. 2017 Sep 8;66(15):1-11.
  29. Lu CY, Williams MS, Ginsburg GS, Toh S, Brown JS, Khoury MJ. A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.External Genet Med. 2017 Aug 10.
  30. Lynch JA, Berse B, Bowen MS, Grosse SD. In Reference to: “Cost and Utility of Thrombophilia Testing”External J. Hosp. Med. 2017 September;12(9):783.
  31. Lynch JA, Berse B, Dotson WD, Khoury MJ, Coomer N, Kautter J. Utilization of genetic tests: analysis of gene-specific billing in Medicare claims data.External Genet Med. 2017 Aug;19(8):890-899.
  32. Qadir XV, Clyne M, Lam TK, Khoury MJ, Schully SD. Trends in published meta-analyses in cancer research, 2008-2013.External Cancer Causes Control. 2017 Jan;28(1):5-12.
  33. Phillips KA, Deverka PA, Sox HC, Khoury MJ, Sandy LG, Ginsburg GS, Tunis SR, Orlando LA, Douglas MP. Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.External Genet Med. 2017 Oct;19(10):1081-1091.
  34. Roberts MC, Clyne M, Kennedy AE, Chambers DA, Khoury MJ. The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis.External Genet Med. 2017 Oct 26.
  35. Roberts MC, Kennedy AE, Chambers DA, Khoury MJ. The current state of implementation science in genomic medicine: opportunities for improvement.External Genet Med. 2017 Aug;19(8):858-863.


  36. Auffray C, Caulfield T, Griffin JL, Khoury MJ, Lupski JR, Schwab M. From genomic medicine to precision medicine: highlights of 2015.External Genome Med. 2016 Jan 29;8(1):12.
  37. Chambers DA, Feero WG, Khoury MJ. Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research.External JAMA. 2016 May 10;315(18):1941-2.
  38. Dotson WD, Bowen MS, Kolor K, Khoury MJ. Clinical utility of genetic and genomic services: context matters.External Genet Med. 2016 Jul;18(7):672-4.
  39. Grosse SD, Khoury MJ. Epidemiology matters: peering inside the “black box” in economic evaluations of genetic testing.External Genet Med. 2016 Oct;18(10):963-5.
  40. Iqbal SA, Wallach JD, Khoury MJ, Schully SD, Ioannidis JP. Reproducible Research Practices and Transparency across the Biomedical Literature.External PLoS Biol. 2016 Jan 4;14(1):e1002333.
  41. Kennedy AE, Khoury MJ, Ioannidis JP, Brotzman M, Miller A, Lane C, Lai GY, Rogers SD, Harvey C, Elena JW, Seminara D. The Cancer Epidemiology Descriptive Cohort Database: A Tool to Support Population-Based Interdisciplinary Research.External Cancer Epidemiol Biomarkers Prev. 2016 Oct;25(10):1392-1401.
  42. Khoury MJ, Galea S. Will Precision Medicine Improve Population Health?External JAMA. 2016 Oct 4;316(13):1357-1358.
  43. Khoury MJ, Iademarco MF, Riley WT. Precision Public Health for the Era of Precision Medicine.External Am J Prev Med. 2016 Mar;50(3):398-401.
  44. Khoury MJ. Announcement: National Family History Day – November 24, 2016.External MMWR Morb Mortal Wkly Rep. 2016 Nov 25;65(46):1305.
  45. Lynch JA, Berse B, Petkov V, Filipski K, Zhou Y, Khoury MJ, Hassett M, Freedman AN. Implementation of the 21-gene recurrence score test in the United States in 2011.External Genet Med. 2016 Oct;18(10):982-90.
  46. Marcus PM, Pashayan N, Church TR, Doria-Rose VP, Gould MK, Hubbard RA, Marrone M, Miglioretti DL, Pharoah PD, Pinsky PF, Rendle KA, Robbins HA, Roberts MC, Rolland B, Schiffman M, Tiro JA, Zauber AG, Winn DM, Khoury MJ. Population-based precision cancer screening: a symposium on evidence, epidemiology, and next steps.External Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1449-1455.
  47. Rodriguez JL, Thomas CC, Massetti GM, Duquette D, Avner L, Iskander J, Khoury MJ, Richardson LC. CDC Grand Rounds: Family History and Genomics as Tools for Cancer Prevention and Control.External MMWR Morb Mortal Wkly Rep. 2016 Nov 25;65(46):1291-1294.
  48. Valdez R, Grosse SD, Khoury MJ. The need for a next-generation public health response to rare diseases.External Genet Med. 2016 Oct 27;19(5):489-490
  49. Yu W, Gwinn M, Dotson WD, Green RF, Clyne M, Wulf A, Bowen S, Kolor K, Khoury MJ. A knowledge base for tracking the impact of genomics on population health.External Genet Med. 2016 Dec;18(12):1312-1314. 9.

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