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 (+1 others)
2018 PLoS Medicine  
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. OPEN ACCESS Citation: Khoury MJ, Feero WG, Chambers DA, Brody LE, Aziz N, Green RC, et al. (2018) A collaborative translational research framework for evaluating and implementing the appropriate use of human genome
more » ... ncing to improve health. PLoS Med 15(8): e1002631. https://doi. • 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. Provenance: Not commissioned; externally peerreviewed à Tier 1: evidence of clinical validity and utility; tier 2: evidence of clinical validity but unclear utility; tier 3: unclear validity and utility (based on the paper by Dotson and colleagues [15] ). Ãà Tiers 2 and 3 genes/variants also provide an opportunity to evaluate how to prepare a health system to anticipate new findings, both positive and negative, related to genome sequencing-what ancillary studies can focus on current use of genome sequencing, factors affecting uptake/de-implementation as warranted, so that future discoveries can be integrated into the learning health system. Abbreviations: FH, familial hypercholesterolemia; HBOC, hereditary breast and ovarian cancer; RCT, randomized controlled trial.
doi:10.1371/journal.pmed.1002631 pmid:30071015 pmcid:PMC6071954 fatcat:dajkdqdgnrh5fmvdmrnt3h5l6m