Table 1.

Role of population sciences in translating genomic discoveries to reduce the burden of cancer, by context of use of genomic information, and type of population discipline

Scientific disciplinesGeneral population/primary careCancer care
I. Epidemiologic and clinical research (T1–T2)Cohort and case–control population studies can identify and characterize genetic risks, interactions with modifiable risk factors, and evaluate performance and added value of genomics as cancer risk predictors; these studies can also lead to biological insight on causes and pathways in cancer development; as well as inform population surveillanceFollow-up observational studies in cancer care settings assess how tumor and germ line genomic factors can predict treatment response, side effects, prognosis, recurrence mortality, and quality of life indicators; evaluate how these factors interact with nongenomic factors in predicting various outcome; these studies can also lead to biological insight into pathways of cancer progression and response to various interventions
ExamplesNumerous recent findings from GWA studies of various cancers (30–37)Mutations in the KRAS gene is associated with nonresponse in patients treated for metastatic CRC with Cetuximab (38, 39) HER2 discovery and correlation with outcomes led to the development of a targeted monoclonal antibody, Herceptin, which is now part of breast cancer treatment (40, 41)
II. Behavioral, social and communication sciencesStudies that assess public and provider understanding of genomic information, evaluate how genomics can improve risk communication and health behavior change, and use genomics to identify behavioral and environmental intervention targetsStudies that assess patients' understanding and use of genomic information to improve decision making regarding treatment options, assess how behavioral, communication and social factors can modulate impact of targeted genomic-based interventions to motivate health behavior and environmental changes
ExamplesAssessing the psychobehavioral impact of personal genomic profile tests on healthy individuals (8)Assessing psychologic predictors of BRCA counseling and testing decisions among African-American women (44)
III. Knowledge synthesis and evidence-based recommendationsSystematic reviews, meta-analysis and modeling of basic, clinical, and population data to guide evidence recommendations on use of genomic information in reducing cancer occurrence as well as inform additional research and stakeholder decision makingSystematic reviews, meta-analysis and modeling of basic, clinical, and population data to guide evidence recommendations on use of genomic information in improving cancer care and outcomes, as well as informing additional research and stakeholder decision making
ExamplesEGAPP knowledge synthesis and recommendation that all new cases of CRC be tested for Lynch syndrome to reduce CRC morbidity and mortality in relatives (52)EGAPP knowledge synthesis and recommendation that all breast cancer gene expression profiles have insufficient evidence to drive treatment of breast cancer in women called for RCTs to be done (63)
IV. Health services, comparative effectiveness and outcomes research and implementation scienceStudies that assess multilevel determinants of implementation, dissemination, and outcomes of genomic information in reducing the population burden of cancer; these include provider and consumer education, policies, coverage, access to services, and cost-effectiveness analyses. Understanding ways to of evidence recommendations (personal, familial, community, and health systems)Studies that assess multilevel factors for implementation and outcomes of using genomic information in cancer care settings. These include patient and provider factors, health care organization factors, policies, coverage and access, and cost- effectiveness analyses. Understanding ways to increase uptake of evidence recommendations (evidence on rapidly learning healthcare systems)
ExamplesCancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer in community settings (43)Multicenter follow-up study documenting drastic decline in on cancer screening and early mortality in BRCA1 carriers following prophylactic surgery (47)