Using a Historical Lens to Envision the Next Generation of Genomic Translation Research

McBride C.M.a · Abrams L.R.b · Koehly L.M.b

aEmory University Rollins School of Public Health, Atlanta, Ga., and bNational Human Genome Research Institute, Bethesda, Md., USA

Abstract

Background: The past 20 years have witnessed successive and exponential advances in genomic discovery and technology, with a broad scientific imperative pushing for continual advancements. The most consistent critique of these advances is that they have vastly outpaced translation of new knowledge into improvements in public health and medicine. Methods: We employ a historical and epistemological analysis to characterize how prevailing scientific meta-narratives have shaped the pace and priorities of research applying genomics to health promotion. We use four ‘pivotal events' - the genetic characterization of Down syndrome, the launch of the Human Genome Research Project, the discovery of BRCA1, and the emergence of direct-to- consumer genetic testing - to illustrate how these scientific meta-narratives have inhibited genomic translation research. Results: The notion that discovery should precede translation research has over-focused translation research on the latest genetic testing platform. The idea that genetic-related research has an exceptional potential for public harm has encouraged research on worst case scenarios. The perceived competition between genetics and social determinants of health has discouraged a unified research agenda to move genomic translation forward. Conclusion: We make a case for creating new scientific meta-narratives in which discovery and translation research agendas are envisioned as an interdependent enterprise.