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

Date Published: August 2, 2018

Publisher: Public Library of Science

Author(s): 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

Abstract: In a Policy Forum, Muin Khoury and colleagues discuss research on the clinical application of genome sequencing data.

Partial Text: A vision for genomic medicine is that germline genome sequencing will be routinely conducted in health systems to provide healthcare and preventive services tailored to each individual [1]. For the most part, sequencing is not yet routinely used in clinical practice but is prioritized among people with certain diseases (e.g., ill newborns, and people with cancer or rare diseases) [2] or genetic predisposition to certain diseases (e.g., BReast CAncer susceptibility gene 1 [BRCA1] and BReast CAncer susceptibility gene 2 [BRCA2] testing for hereditary breast and ovarian cancer susceptibility) [3]. Recent studies have begun evaluating the use of genome sequencing for a wide variety of interventions in multiple healthcare settings and population groups. The idea that one test can provide a broad range of information on a vast number of conditions is unprecedented. Sequencing data could be used for patients’ immediate healthcare needs, but also for their future risk assessment and prevention for a wide variety of health issues and pharmaceutical management.

We have described essential elements of a collaborative translational research agenda to evaluate the potential use of germline genome sequencing in primary care and population screening. There is some urgency to developing this agenda, as genome sequencing is becoming more reliable, less expensive, and widely used inside and outside healthcare systems, without a thorough investigation of its clinical utility.

A robust large-scale translational collaborative effort is now needed to understand the health benefits and potential harms and costs of genome sequencing, by studying the implementation of what we know can work, evaluating the possible utility of promising genes and variants, and critically assessing the validity of emerging genomic information for improving health and preventing disease. Although details on how to accomplish this task are beyond the scope of this piece, we plan to assemble a transdisciplinary, multi-sectoral group of experts to identify compelling questions, examine the available data, explore critical challenges and opportunities, and develop specific recommendations to implement a collaborative research framework for accelerating the evaluation of human genome sequencing in clinical practice.



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