Precision Cancer Screening in the General Population: Evidence, Epidemiology, and Next Steps

September 29, 2015 in Rockville, MD


Cancer screening, the routine testing of asymptomatic individuals without a history of the disease of interest, is an important approach to cancer prevention and control. Compelling evidence indicates that screening for at least four cancers extends life, but population-based cancer screening also leads to unfavorable events. Only a minority of those screened will benefit, and many will receive false-positive results. Some who are screened will experience undesirable aftereffects, ranging from minor inconveniences to serious adverse events due to the screening exam itself or subsequent diagnostic evaluation.

Precision cancer screening attempts to separate those who will benefit from screening from those who will not through use of information on disease risk. The practice is not new: screening guidelines always have been age-dependent, and lung cancer guidelines restrict screening to those with a substantial smoking history. Advances in genomics during the past decade have led to the identification of many common polymorphisms that are associated with modest increases in risk that, when examined together, identify persons whose risk levels are considerably elevated.

The success of precision cancer screening in the general population depends on the ability to predict individuals' risk of cancers that would result in premature death without early intervention. By "general population," we refer to persons not known or suspected to be at drastically increased or decreased risk due to highly penetrant genetic mutations, comorbidities known to increase risk, and without previous diagnosis of cancer or precancer. Of course, risk varies meaningfully among those in the general population, and precision cancer screening aims to identify those at the higher end of the risk distribution as well as those at the lower end, with an eye toward determining whether standard screening regimens can be modified.

Precision cancer screening in the general population is an important and timely topic in cancer research, but much about its effectiveness in clinical and public health settings remains unknown.

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This day-long symposium brought together experts in cancer screening, risk prediction, epidemiology, and other related disciplines to discuss what is known and what is not known about the effectiveness of precision cancer screening for breast, cervical, colorectal, lung, and prostate cancers in the general population. The symposium focused on three classes of risk-stratification variables: genetic (including genomic), nongenetic, and previous screening history. In the morning, experts focused on what precision cancer screening in the general population means, as well as on the body of evidence and professional society recommendations for precision cancer screening for the five cancers listed above. In the afternoon, attendees had the opportunity to participate in a small-group, 1-hour breakout session. The goal of these sessions was to identify the most important questions in precision cancer screening and discuss how epidemiology can be used to find answers to these questions. The day was filled with opportunities for questions, comments, and other interactions. Following the meeting, a white paper summarizing the discussions and conclusions will be submitted to a peer-reviewed journal, and a Program Announcement may be generated.

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Tuesday, September 29, 2015
Time Topic
8:00 a.m. - 8:15 a.m. Check-in
*Due to the symposium being at capacity, there will be no on-site registration.
8:15 a.m. - 8:30 a.m.

Pamela Marcus, Ph.D., M.S., E.L.S.
NCI, Division of Cancer Control and Population Sciences (DCCPS)

8:30 a.m. - 8:45 p.m.

NIH's Precision Medicine Initiative
Robert Croyle, Ph.D.

Deborah M. Winn, Ph.D.

8:45 a.m. - 9:30 a.m.

Keynote Address
Precision Cancer Screening in the General Population: Challenges and Opportunities

Nora Pashayan, M.D., Ph.D.
University College London

9:30 a.m. - 10:00 a.m. Break
10:00 a.m. - 12:00 p.m.


  • Breast Cancer Screening
    Rebecca Hubbard, Ph.D.
    University of Pennsylvania
  • Cervical Cancer Screening
    Mark Schiffman, M.D., M.P.H.
    NCI, Division of Cancer Epidemiology and Genetics
  • Colorectal Cancer Screening
    Tim Church, Ph.D.
    University of Minnesota
  • Lung Cancer Screening
    Michael Gould, M.D., M.S.
    Kaiser Permanente, Southern California
  • Prostate Cancer Screening
    Paul Pharoah, M.D., Ph.D.
    University of Cambridge

Questions and Comments

12:00 p.m. - 1:00 p.m. Lunch (on your own)
1:00 p.m. - 1:15 p.m.

Charge to Breakout Groups
Pamela Marcus, Ph.D., M.S., E.L.S.

1:15 p.m. - 2:15 p.m.

Breakout Sessions

  • Risk Prediction and Microsimulation Modeling
    Leader: Ann Zauber, Ph.D.
    Memorial Sloan Kettering Cancer Center
  • Health Services and Clinical Implementation
    Leader: Paul Doria-Rose, D.V.M., Ph.D.
  • Leveraging Existing Data Sources and Infrastructure
    Leader: Diana Miglioretti, Ph.D.
    University of California, Davis
  • Behavioral Aspects and Health Disparities
    Leader: Jasmin Tiro, Ph.D.
    University of Texas Southwestern Medical Center
  • Evaluating Differential Effectiveness of Screening by Demographics, Genetics, and Other Factors
    Leader: Paul Pinsky, Ph.D.
    NCI, Division of Cancer Prevention
2:15 p.m. - 2:30 p.m. Break
2:30 p.m. - 3:30 p.m. Reports From Breakout Group Leaders
3:30 p.m. - 4:30 p.m.

Panel and Open Microphone Discussion
Moderator: Pamela Marcus, Ph.D., M.S., E.L.S.

Panel: Speakers, Breakout Leaders, NCI staff

4:30 p.m. - 4:45 p.m.

Pamela Marcus, Ph.D., M.S., E.L.S.

4:45 p.m. Adjournment

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Symposium Summary

Population-based precision cancer screening: a symposium on evidence, epidemiology, and next steps. Cancer Epidemiol Biomarkers Prev. 2016 Aug 9. [Epub ahead of print]

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Related Resources

  • NIH's Precision Medicine Initiative
    Precision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle. To accelerate the pace of advancement in this field, President Obama unveiled the $215 million Precision Medicine Initiative (PMI) in his 2016 budget. PMI is a bold new enterprise to revolutionize medicine and generate the scientific evidence needed to advance the concept of precision medicine in everyday clinical practice.
  • Stratified screening for cancer: recommendations and analysis from the Collaborative Oncological Gene-environment Study (COGS) projectExternal Web Site Policy
    The purpose of COGS was to improve understanding of the causes and prevention of cancers of the breast, ovary, and prostate. One aim was to investigate the efficacy and cost-effectiveness of using genomic and other information in stratified cancer prevention strategies; and the organizational, ethical, legal, and social implications that would arise. This report provides background information and findings in the main areas of inquiry, and includes recommendations.
  • Marcus PM, Freedman AN, Khoury MJ. Targeted cancer screening in average-risk individualsExternal Web Site Policy. American Journal of Preventive Medicine, in press.

    This paper reviews classes of factors used to determine risk, guidelines from professional organizations, and the availability of evidence to support such guidelines using examples from breast, cervical, colorectal, lung, and prostate cancers.

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For further information or questions, contact Pamela Marcus, Ph.D., M.S, E.L.S.

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