Translational genomics and precision medicine: Moving from the lab to the clinic
Year: 2019
Type: review
Abstract: Translational genomics aims to improve human health by building on discoveries made through genetics research and applying them in the clinical setting. This progress has been made possible by technological advances in genomics and analytics and by the digital revolution. Such advances should enable the development of prognostic markers, tailored interventions, and the design of prophylactic preventive approaches. We are at the cusp of predicting disease risk for some disorders by means of polygenic risk scores integrated with classical epidemiological risk factors. This should lead to better risk stratification and clinical decision-making. A deeper understanding of the link between genome-wide sequence and association with well-characterized phenotypes will empower the development of biomarkers to aid diagnosis, inform disease progression trajectories, and allow better targeting of treatments to those patients most likely to respond.
Source: Science
Institutions: Helmholtz Munich, Centre for Human Genetics, Churchill Hospital, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Manchester Academic Health Science Centre, University of Manchester, Manchester University NHS Foundation Trust, NIHR Manchester Biomedical Research Centre, University of Leicester, Glenfield Hospital, National Institute for Health and Care Research
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: G1335979935, Bridging the gap from type 2 diabetes genetics to functional mechanisms of disease., Identifying variants causal for Type 2 Diabetes in Major human populations, G434337789, G4426574518, Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes, Defining the molecular and physiological mechanisms of pancreatic islet dysfunction which lead to type 2 diabetes, Human Genetics and Disease Biology: Core Renewal for the Wellcome Trust Centre for Human Genetics, Defining mechanisms for pancreatic beta-cell dysfunction in type 2 diabetes, A systematic approach to understanding the biology underpinning GWAS hits., G867345008
OpenAlex ID: W2975979350