Population Sciences, Translational Research, and the Opportunities and Challenges for Genomics to Reduce the Burden of Cancer in the 21st Century

Abstract

Advances in genomics and related fields are promising tools for risk assessment, early detection, and targeted therapies across the entire cancer care continuum. In this commentary, we submit that this promise cannot be fulfilled without an enhanced translational genomics research agenda firmly rooted in the population sciences. Population sciences include multiple disciplines that are needed throughout the translational research continuum. For example, epidemiologic studies are needed not only to accelerate genomic discoveries and new biological insights into cancer etiology and pathogenesis, but to characterize and critically evaluate these discoveries in well defined populations for their potential for cancer prediction, prevention and response to treatments. Behavioral, social and communication sciences are needed to explore genomic-modulated responses to old and new behavioral interventions, adherence to therapies, decision-making across the continuum, and effective use in health care. Implementation science, health services, outcomes research, comparative effectiveness research and regulatory science are needed for moving validated genomic applications into practice and for measuring their effectiveness, cost effectiveness and unintended consequences. Knowledge synthesis, evidence reviews and economic modeling of the effects of promising genomic applications will facilitate policy decisions, and evidence-based recommendations. Several independent and multidisciplinary panels have recently made specific recommendations for enhanced research and policy infrastructure to inform clinical and population research for moving genomic innovations into the cancer care continuum. An enhanced translational genomics and population sciences agenda is urgently needed to fulfill the promise of genomics in reducing the burden of cancer.

Medical Genetic Counseling for Breast Cancer in Primary Care: A Synthesis of Major Determinants of Physicians' Practices in Primary Care Settings

“…Genetic research identified pathogenic mutations in BRCA1 and BRCA2 genes in 5-10% of hereditary breast cancer, and recent genetic discoveries showed more susceptible genes including TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome [4]. Thus, an important proportion of the social and economic burden arising from breast cancer can be reduced and limited by implementing effective evidence-based strategies such as genetic counseling, risk management and surveillance, and early-stage tumor detection and management targeting women at moderate or high risk for breast cancer [5,6,7]. …”

Economic Evaluation of Pharmacogenomics: A Value-Based Approach to Pragmatic Decision Making in the Face of Complexity

“…Only about one-quarter of currently available tests and one-fifth of tests with likely clinical utility have associated cost-utility data. Although there is not a single accepted definition, clinical utility implies that changes in patient management will occur which are likely to improve clinical outcomes with health benefits, defined in terms of clinical endpoints [9], although other factors besides clinical endpoints are important as well [10]. A primary reason noted for the lack of cost-effectiveness evaluations is that many tests lack widely accepted evidence of clinical utility meaning that a CEA would by necessity be based on clinical utility assumptions [8].…”

The Future of Genomic Testing in Primary Care: The Changing Face of Personalized Medicine

“…The future of genomic testing in primary care: the changing face of personalized medicine Perspective remains an enormous challenge [88]. We propose a strategic integration framework that includes the following elements: ensuring the fit of genomic medicine with the key approach of whole-person care through personalization; targeting areas that will see early benefit such as pharmacogenomics; ensuring that appropriate clinical decision support is available that supplements any education efforts for primary care providers; assessing the economic impact of genomic medicine to determine optimal implementation; supplementing genomic information with patient information including the full FHH; and looking to the future for areas of development such as the intersection of public health, primary care and genomics.…”

“…Our strategic framework builds on early work that emphasizes the role of education and step-wise implementation [18,20,21,89]. Effective ways to continuously review and summarize the rapidly accumulating complex knowledge are needed to facilitate policy decisions and evidence-based recommendations [88]. As stated by Khoury et al, "implementation…”

“…future science group Perspective Bartlett, Rahimzadeh, Longo et al science, health services, outcomes research, comparative effectiveness research, and regulatory science are needed for moving validated genomic applications into practice and for measuring their effectiveness, cost-effectiveness, and unintended consequences" [88]. Whereas population-based measures will remain the cornerstone in the fight against chronic diseases, more personalized approaches that account for genomics as well as other patient characteristics such as obesity, ethnicity, FHH and drug efficacy, tolerance and toxicity need to be included in order to more effectively provide more holistic integrated primary care.…”