Precision Medicine & Population Health
The implementation of the NIH Precision Medicine Initiative (PMI) is now well under way. Cancer is important to both arms of this initiative: the oncology treatment arm, in which NCI is taking the lead in developing precision medicine therapeutics, as well as in the cohort component, through which recruitment of a large number of individuals for epidemiologic and other follow-up studies and interventions will contribute to our knowledge on a wide range of diseases, including cancer. The PMI network also can serve as a platform for a vast array of research studies, both observational and interventional.
The current focus of precision medicine emphasizes medical applications in healthcare settings. However, since health in populations is driven by biologic, social, environmental and economic processes, those determinants of health and health disparities also need to be addressed — including the development of precision tools to measure them. To make an impact on population health, we must explore the intersection of precision medicine with population health indicators in general — and cancer control more specifically — to ensure that we take advantage of opportunities to develop more precise approaches to targeted interventions for both populations and individual patients.
A DCCPS-wide interest group was created to explore more fully the scientific and societal intersections between Precision Medicine & Population Health, and the unique role that multiple population sciences and team science can play in bridging the gaps between the two.
The Precision Medicine & Population Health Interest Group’s mission is to:
- Engage both the scientific community at the National Cancer Institute and other Institutes and the extramural research community in the field of “precision population health”
- Identify priority research questions in precision public health
- Develop collaborative interdisciplinary funding initiatives to advance the field
- Disseminate information about ongoing research activities across the Division in precision medicine
- Coordinate relevant webinars and collaborative workshops
- To promote research in population sciences to fulfill the promise of precision treatment and prevention in reducing the burden of cancer
National Cancer Institute Web Pages:
National Institutes of Health Web Pages:
White House Web Pages:
Public Health Genomics Knowledge Base (v1.0) (Precision Public Health and Precision Medicine material)
National Academy of Medicine, 2016 Richard & Hinda Rosenthal Symposium: Precision Population Health
Muin Khoury, CDC Office of Public Health Genomics, keynote address at the 2015 Stanford Center for Population Health Sciences Annual Colloquium, “Precision Public Health in the Era of Precision Medicine,” December 2015
(Slides from presentation)
UC San Francisco, in partnership with the White House and the Bill & Melinda Gates Foundation, hosted the Precision Public Health Summit, Precision Public Health Summit: The First 1,000 Days.
Sue Desmond-Hellman TED Talk, “A smarter, more precise way to think about public health.”
Bayer R, Galea S. Public Health in the Precision-Medicine Era. N Engl J Med. 2015;373(6):499-501.
Beger RD, Dunn W, Schmidt MA, et al. Metabolomics enables precision medicine: "A White Paper, Community Perspective". Metabolomics. 2016;12(10):149.
Berrigan D, Hipp JA, Hurvitz PM, et al. Geospatial and Contextual Approaches to Energy Balance and Health. Ann GIS. 2015;21(2):157-168.
Bonham VL, Callier SL, Royal CD. Will Precision Medicine Move Us beyond Race?. N Engl J Med. 2016;374(21):2003-5.
Chambers DA, Feero WG, Khoury MJ. Convergence of Implementation Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research. JAMA. 2016;315(18):1941-2.
Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793-5.
Collins FS. Exceptional opportunities in medical science: a view from the National Institutes of Health. JAMA. 2015;313(2):131-2.
Dowell, S, Blazes, D, Desmond-Hellman, S. Four steps to precision public health. Nature. 2016;540:189-191.
Fradkin JE, Hanlon MC, Rodgers GP. NIH Precision Medicine Initiative: Implications for Diabetes Research. Diabetes Care. 2016;
Galea S, Annas GJ. Aspirations and Strategies for Public Health. JAMA. 2016;315(7):655-6.
Galea S, Bayer R. The Precision Medicine Chimera. Project Syndicate. January 13, 2016
Green RF, Dotson WD, Bowen S, Kolor K, Khoury MJ. Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare (Basel). 2015;3(3):830-837.
James P, Jankowska M, Marx C, et al. "Spatial Energetics": Integrating Data From GPS, Accelerometry, and GIS to Address Obesity and Inactivity. Am J Prev Med. 2016; [Epub ahead of print].
Jones, T. Let’s Discuss: Precision Public Health and the need for interventions to improve uptake of BRCA genetic testing among Black Women. NCI Research to Reality Discussion. October 13, 2016.
Joyner MJ, Paneth N. Seven Questions for Personalized Medicine. JAMA. 2015;314(10):999-1000.
Khoury, MJ. 2016: The Year of Precision Public Health! CDC Genomics and Health Impact Blog. December 14, 2016.
Khoury, MJ, Richardson, LC. The Cancer Moonshot, Hereditary Cancers and Population Genetic Screening. Blog. October 18, 2016.
Khoury MJ, Evans JP. A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit. JAMA. 2015;313(21):2117-8.
Khoury, MJ, Galea, S. Precision Public Health: More Precision Ahead for Individual and Population Interventions. CDC Genomics and Health Impact Blog. September 7, 2016.
Khoury MJ, Iademarco MF, Riley WT. Precision Public Health for the Era of Precision Medicine. Am J Prev Med. 2016;50(3):398-401.
Khoury, MJ. Precision Public Health and Precision Medicine: Two Peas in a Pod. CDC Genomics and Health Impact Blog. March 2, 2015.
Khoury, MJ. Precision Medicine & Population Health: Dealing With the Elephant in the Room. CDC Genomics and Health Impact Blog. August 17, 2016.
Khoury MJ, Galea, S. Will Precision Medicine Improve Population Health?. JAMA. 2016; [Epub ahead of print].
Kohn EC, Ivy SP. Confronting the Care Delivery Challenges Arising from Precision Medicine. Front Oncol. 2016;6:106.
Levy-lahad E, Lahad A, King MC. Precision medicine meets public health: population screening for BRCA1 and BRCA2. J Natl Cancer Inst. 2015;107(1):420.
Perakslis, E. D., & Kohane, I. S. Treating the enigmatic "exceptional responders" as patients with undiagnosed diseases. Science Translational Medicine. 2016;8(340).
Riazalhosseini Y, Lathrop M. Precision medicine from the renal cancer genome. Nat Rev Nephrol. 2016; [Epub ahead of print]
Shrager J. Precision medicine: Fantasy meets reality. Science. 2016;353(6305):1216-7.
Tenenbaum JD, Avillach P, Benham-hutchins M, et al. An informatics research agenda to support precision medicine: seven key areas. J Am Med Inform Assoc. 2016.
The staff members listed below have expertise in the corresponding research areas. To contact staff or find out more about their research interests, please click on their hyperlinked name.
Epidemiology and Genomics Research
Healthcare Delivery Research
Archived Webinar Series
Dr. Davey Smith will give an overview of the field of Mendelian Randomization, and the opportunities it provides for assessing causal inference in medicine and public health, some of its methodologic limitations, as well as related approaches than can contribute to precision medicine and population health. He will use examples from cancer, cardiovascular diseases and other fields to illustrate this approach. (40 minutes)
Discussion: This includes Q&As with speaker about his presentation. We will also focus on the future science agenda for Mendelian Randomization. (20 minutes)
Mendelian randomization is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in observational studies . The term was first proposed by Gray and Wheatley in 1991 for a method that could obtain unbiased estimates of the effects of cancer treatment within a family based design. The term has since been applied to studies that use genetic variants reliably related to a modifiable risk factor to obtain evidence regarding the causal influence of the risk factor. This is achieved through the properties that genetic variants have that render them not susceptible to reverse causation and confounding , which otherwise bedevil epidemiological studies.
Professor George Davey Smith
MA Oxon. MB B.Chir (Cantab), MSc (London), MD (Cantab), DSc (Oxon)
Professor of Clinical Epidemiology
Bristol Medical School: Population Health Sciences
Bristol, United Kingdom
- A two minute primer on mendelian randomisation
- Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?
G Davey Smith, S Ebrahim, Int J Epidemiol 2003 Feb;32(1):1-22.
- Mendelian randomization
CA Emdin et al, JAMA, Nov 21, 2017
- Mendelian Randomization: How the Natural Assortment of Genes Can Mimic Randomized Clinical Trials
JAMA Podcast, Nov 21, 2017
- Mendelian Randomization Evidence for Cardiovascular Precision Medicine
C O'Donnell, JAMA Cardiology, June 20, 2018
- Using genetic data to strengthen causal inference in observational research
JB Pingault et al, Nat Rev Genetics, June 5, 2018
- Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges
L Paternoster et al. PLoS Genetics 2017 Oct 13(10) e1006944
- Mendelian randomization: where are we now and where are we going?
S Burgess et al. Int J Epidemiology 2015;44(2):379-388.
- Mendelian randomization in cardiometabolic disease: challenges in evaluating causality
Holmes MV, Ala-Korpela M, Davey Smith G. Nature Reviews Cardiology 2017;14:577-590
- Precision Medicine and Population Health Interest Group, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health
- Center for Translation Research and Implementation Science, National Heart, Lung and Blood Institute, National Institutes of Health
- Office of Public Health Genomics, Centers for Disease Control and Prevention
Most common diseases such as cancer and heart disease are caused by a combination of genetic and environmental factors. In addition to rare genetic diseases with high individual and family risk, recent advances in genomics have enhanced our understanding of multiple genetic variants for these diseases. The contribution of multiple genes to most common diseases can be captured under the rubric of polygenic inheritance, in which additive effects of numerous genes create a normal distribution of disease risk in the population that can be quantified using additive genetic risk scores. There has been a recent surge in scientific interest and publications in using genetic risk scores to stratify people by level of risk and explore using this information in prediction, screening and control of common diseases. Using cancer and heart disease as potential applications, this webinar will explore recent findings, scientific opportunities and challenges in using genetic risk scores in the prevention and control of common diseases.
Using Genetic Risk Scores in the Prevention and Control of Common Diseases: Promising Opportunities
Sekar Kathiresan, M.D.
Director of the Center for Genomic Medicine (CGM) at Massachusetts General Hospital (MGH), Director of the Cardiovascular Disease Initiative at the Broad institute, and an Associate Professor of Medicine at Harvard Medical School, Boston, Massachusetts
Using Genetic Risk Scores in the Prevention and Control of Common Diseases: Scientific and Implementation Challenges
Cecile Janssens, Ph.D.
Professor of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, Georgia,
- Presentations. Each presenter will review current experiences; and evidentiary, economic, data sharing and infrastructure, and outcome data requirements needed to implement and measure success of genome sequencing in improving health. (20 minutes each; 40 minutes total)
- Discussion and Q&As. Emphasis is on how the presented information should inform an implementation science agenda in genomic medicine. (20 minutes)
1. Genome-wide polygenic score to identify a monogenic risk-equivalent for coronary disease. Amit V Khera, Marc Chaffin, Krishna Aragam, Connor A Emdin, Derek Klarin, Mary Haas, Carolina Roselli, Pradeep Natarajan, Sekar Kathiresan. bioRxiv 218388; doi: https://doi.org/10.1101/218388
2. Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation. 2017 May 30;135(22):2091-2101. doi: 10.1161/CIRCULATIONAHA.116.024436. Epub 2017 Feb 21.
3. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358. Epub 2016 Nov 13.
- The Precision Medicine and Population Health Interest Group, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health
- The Center for Translation Research and Implementation Science, National Heart, Lung and Blood Institute, National Institutes of Health
- The Office of Public Health Genomics, Centers for Disease Control and Prevention
Human genome sequencing is now increasingly incorporated into a variety of health systems in the United States and globally. Clinical screening programs share the goal of examining genes or variants in unselected populations in order to identify increased risk individuals to help prevent future disease, or adverse drug outcomes. Many current genomic-based screening programs examine germline variability in specific genes that have been evaluated and recommended by evidence groups. Others are implementing whole genome or whole exome sequencing as part of biobank efforts linked with electronic health records and/or other epidemiologic data.
Our two webinar presenters will review current experiences, as well as evidentiary, economic, data sharing and infrastructure, and outcome data requirements needed to implement and measure success of genome sequencing in improving health. After the two 20 minute presentation, another 20 minutes will be devoted to a dialogue and questions and answers from the live audience and online attendees, with special emphasis on how the information presented should inform an implementation science agenda in genomic medicine.
W. GREGORY FEERO, MD, PhD
Faculty, Maine Dartmouth Family Medicine Residency Program, Augusta, Maine
Associate Editor for Genomics, the Journal of the American Medical Association
Title: Integrating Genomics into Large Health Systems: Challenges in Implementation and Evaluation
Recent Relevant Publications
- Seven Questions for Personalized Medicine. Joyner MJ, Paneth N. JAMA. 2015 Sep 8;314(10):999-1000.
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Vassy JL, et al. Ann Intern Med. 2017 Jun 27.
- The IGNITE network: a model for genomic medicine implementation and research. Weitzel KW, et al. BMC Med Genomics. 2016 Jan 5;9:1.
MICHAEL MURRAY, MD
Director of Clinical Genomics
Geisinger Health System
Title: Integrating Genomics into Large Health Systems: The Geisinger Experience
Recent Relevant Publications
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Abul-Husn NS, et al. Science. 2016 Dec 23;354(6319).
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. Buchanan AH, et al. Genet Med. 2017;October 26.
- Medicine's future? Trivedi BP. Science. 2017 Oct 27;358(6362):436-440.
the Precision Medicine and Population Health Interest Group in NCI’s Division of Cancer Control and Population Sciences
NIH Genomics and Health Disparities Interest Group
Advances in genome sequencing and other “omic” technologies and big data promises a new era of personalized medicine and public health. However, it is not entirely clear whether new technologies can be used to understand and address existing population health disparities. The Precision Medicine and Population Health Interest Group in the Division of Cancer Control and Population Sciences at the National Cancer Institute (NCI) and the NIH Genomics and Health Disparities Interest Group invite you to a special 1-hour online webinar that explores the intersection among genomics, precision medicine and health disparities. Our two speakers will explore the appropriate role and impact of genomics and tools of precision medicine in understanding and addressing health disparities in the US and around the world. After the two 20-minute presentations, another 20 minutes will be devoted to a dialogue and Questions and Answers from both the live audience and online attendees.
Special Webinar Organizing Committee: Vence Bonham (NHGRI), Michael Hahn (NHGRI), Debbie Winn (NCI), and Muin Khoury (NCI/CDC)
Charles N. Rotimi, PhD
Chief and Senior Investigator, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch
Director, Center for Research on Genomics and Global Health
Wylie Burke, MD, PhD
Professor and former Chair, Department of Bioethics and Humanities, University of Washington
Adjunct Professor of Medicine (in the Division of Medical Genetics)
Member of the Fred Hutchinson Cancer Research Center
- Genomics, Health Disparities, and Missed Opportunities for the Nation's Research Agenda. West KM, Blacksher E, Burke W. JAMA. 2017 May 9;317(18):1831-1832.
- The African diaspora: history, adaptation and health. Rotimi CN, Tekola-Ayele F, Baker JL, Shriner D. Curr Opin Genet Dev. 2016 Dec;41:77-84.
- Will Precision Medicine Improve Population Health? Khoury MJ, Galea S. JAMA. 2016 Oct 4;316(13):1357-1358.
- Racial/Ethnic Disparities in Genomic Sequencing. Spratt DE, Chan T, Waldron L, Speers C, Feng FY, Ogunwobi OO, Osborne JR. JAMA Oncol. 2016 Aug 1;2(8):1070-4.
- The contribution of genomic research to explaining racial disparities in cardiovascular disease: a systematic review. Kaufman JS, Dolman L, Rushani D, Cooper RS. Am J Epidemiol. 2015 Apr 1;181(7):464-72.
- Genomics is failing on diversity. Popejoy AB, Fullerton SM. Nature. 2016 Oct 13;538(7624):161-164.
The Precision Medicine & Population Health (PMPH) Interest Group in the Division of Cancer Control and Population Sciences at the National Cancer Institute along with Center for Translation and Implementation Science, National Heart, Lung, and Blood Institute invites you to join Dr. Joshua Knowles and Dr. Heather Hampel for the webinar, "Precision Public Health in Action: How to Prevent Heart Disease and Cancer Associated with Inherited Mutations.”In this session, we will explore how “precision” public health approaches can help reduce the burden of heart disease and cancer due to inherited mutations. Dr. Knowles will lead with a presentation on population-based and cascade approaches to identify patients and families with familial hypercholesterolemia. Ms. Hampel will present on population-based and cascade approaches to identify patients and families with Lynch syndrome. The webinar will conclude with time for discussion and Q&A on implications for other conditions and the pros and cons of adult genetic screening.
Joshua Knowles, MD
Assistant Professor of Medicine (Cardiovascular Medicine)
Stanford University Medical Center
Heather Hampel, MS, LGC
Professor of Human Genetics, Department of Internal Medicines
Ohio State University
In this session Dr. Riley lead with a presentation on precision medicine discussing its scope “beyond genes, drugs and diseases” followed by Dr. Bibbins-Domingo discussing the concept of precision public health as it has evolved recently as a result of a “precision public health summit” sponsored by the Gates foundation at the University of California at San Francisco in June 2016.
William Riley, PhD
Office of Behavioral and Social Sciences Research
National Institutes of Health
Kirsten Bibbins-Domingo, MD, PhD, MAS
Lee Goldman, MD Endowed Chair in Medicine
Professor of Medicine and of Epidemiology and Biostatistics
University of California, San Francisco
In this session Dr. Chambers lead with a presentation discussing the convergence of implementation science and precision medicine, followed by Dr. Ginsburg discussing the IGNITE (Implementing GeNomics In pracTicE) network, and other precision medicine initiatives occurring globally and at Duke University.
David Chambers, DPhil.
Deputy Director for Implementation Science
Office of the Director
Division of Cancer Control & Population Sciences
National Cancer Institute
Geoffrey S. Ginsburg, M.D., Ph.D.
Professor of Medicine, Pathology, and Biomedical Engineering
Professor in the School of Nursing
Director, Center for Applied Genomics & Precision Medicine
In this session, Dr. Muin J. Khoury (Director, Office of Public Health Genomics, Centers for Disease Control and Prevention) and Dr. Sandro Galea (Dean & Robert A. Knox Professor, Boston University School of Public Health) gave alternating viewpoints on whether the field of public health will be accelerated and improved with the new era of precision medicine.
Muin J. Khoury, MD, PhD
Office of Public Health Genomics, CDC
Senior Advisor, Division of Cancer Control & Population Sciences, NCI, NIH