Comparative Effectiveness Research in Cancer Genomics and Precision Medicine: Current Landscape and Future Prospects

Abstract

A major promise of genomic research is information that can transform health care and public health through earlier diagnosis, more effective prevention and treatment of disease, and avoidance of drug side effects. Although there is interest in the early adoption of emerging genomic applications in cancer prevention and treatment, there are substantial evidence gaps that are further compounded by the difficulties of designing adequately powered studies to generate this evidence, thus limiting the uptake of these tools into clinical practice. Comparative effectiveness research (CER) is intended to generate evidence on the "real-world" effectiveness compared with existing standards of care so informed decisions can be made to improve health care. Capitalizing on funding opportunities from the American Recovery and Reinvestment Act of 2009, the National Cancer Institute funded seven research teams to conduct CER in genomic and precision medicine and sponsored a workshop on CER on May 30, 2012, in Bethesda, Maryland. This report highlights research findings from those research teams, challenges to conducting CER, the barriers to implementation in clinical practice, and research priorities and opportunities in CER in genomic and precision medicine. Workshop participants strongly emphasized the need for conducting CER for promising molecularly targeted therapies, developing and supporting an integrated clinical network for open-access resources, supporting bioinformatics and computer science research, providing training and education programs in CER, and conducting research in economic and decision modeling.

The attitudes of Dutch fertility specialists towards the addition of genetic testing in screening of tubal factor infertility

“…However, responding to the statement about the need for additional training if a genetic test was added to TFI screening, almost 70% of respondents expressed preferences for an additional training in clinical genetics prior to the introduction of the test. This finding is in accordance with an earlier study, which identified education and training designed to enable health-care professionals to interpret more complex genomic data as very important facilitating factors in the translation of innovative genomic tests into clinical practice [32].…”

Methods: for studying pharmacogenetic profiles of combination chemotherapeutic drugs

“…A possible solution may come from a robust planned framework. The latter begins with the set up of biobanks through the collection of data and biospecimens, and it ends with the involvement of stakeholders in generating recognized and approved guidelines [126,130]. Therefore, prospective clinical trials and following replication/validation studies will ensure the translation of genetic signatures into clinical routine practice.…”

Molecular Diagnostic Testing in Breast Cancer

“…90 ASCO specifically recommends that these serum markers be used only in conjunction with diagnostic imaging, history, and physical examination. 95 The specific challenges of the field have been identified, such as the rapid pace of innovation, the lack of regulation, privacy issues, and difficulties in data capture, (e.g., lack of outcomes data), difficulty in getting clinicians to enter data, and the lack of consistent procedural terminology codes for most genomic tests. 95,96 Even as the amount of clinical evidence for prognostic and predictive value of specific tests is increasing, there are no available data on the utility of various combinations of assays.…”

“…95 The specific challenges of the field have been identified, such as the rapid pace of innovation, the lack of regulation, privacy issues, and difficulties in data capture, (e.g., lack of outcomes data), difficulty in getting clinicians to enter data, and the lack of consistent procedural terminology codes for most genomic tests. 95,96 Even as the amount of clinical evidence for prognostic and predictive value of specific tests is increasing, there are no available data on the utility of various combinations of assays. Fan et al 97 compared several multiparameter gene expression panels and demonstrated significant agreement in their M A N U S C R I P T…”