A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

PLoS Medicine
http://www.plosmedicine.org/
(Accessed 18 Aug 2018)

Essay
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
Muin J. Khoury, W. Gregory Feero, David A. Chambers, Lawrence E. Brody, Nazneen Aziz, Robert C. Green, A. Cecile J.W. Janssens, Michael F. Murray, Laura Lyman Rodriguez, Joni L. Rutter, Sheri D. Schully, Deborah M. Winn, George A. Mensah
| published 02 Aug 2018 PLOS Medicine
https://doi.org/10.1371/journal.pmed.1002631
Summary points
:: There is currently insufficient scientific evidence to support routine nondiagnostic use of germline genome sequencing in healthcare settings and population screening, but an increasing number of health systems are piloting genomic sequencing projects for clinical care.
:: In principle, numerous diagnostic or prognostic tests based on genes or variants could be used for different purposes across the life span, and an evidence-based approach is urgently needed to evaluate their possible clinical utility and facilitate appropriate implementation.
:: We discuss a translational research framework that features collaboration among multiple health systems with already available genome sequencing data, intervention information, and clinical outcomes. The framework is based on evaluating the impact of genetic information on improving health outcomes with study designs that depend on the evolving level of evidence for specific intended clinical uses.
:: In addition to observational studies, randomized controlled trials will be needed to assess health benefits, harms, and costs based on returning or not returning the results of selected genes/variants to patients, providers, or both, for specific clinical scenarios.
:: The proposed approach will allow learning health systems to collect clinical utility evidence in a research environment and develop the necessary capacity for appropriate integration of sequencing alongside other medical services.