Translating genomics into improved healthcare -- Hingorani et al. 341 -- bmj.com

BMJ 2010; 341:c5945 doi: 10.1136/bmj.c5945 (Published 5 November 2010)
Cite this as: BMJ 2010; 341:c5945

* Clinical Review

* Science, medicine, and the future

Translating genomics into improved healthcare

1. Aroon D Hingorani, professor of genetic epidemiology, British Heart Foundation senior research fellow12,
2. Tina Shah, postdoctoral research fellow2,
3. Meena Kumari, senior research fellow1,
4. Reecha Sofat, specialist registrar in clinical pharmacology2,
5. Liam Smeeth, professor of clinical epidemiology, Wellcome Trust senior clinical fellow3

+ Author Affiliations

1. 1Genetic Epidemiology Group, Department of Epidemiology and Public Health, University College London, UK
2. 2Centre for Clinical Pharmacology, Division of Medicine, University College London
3. 3Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK

1. Correspondence to: L Smeeth liam.smeeth@lshtm.ac.uk

Summary points

* Until recently the genetic basis of most common diseases remained elusive
* Genome wide association analysis has now uncovered thousands of regions of human DNA where sequence variation influences susceptibility to common diseases
* Common single nucleotide polymorphisms associated with disease are distributed across multiple chromosomal regions, have modest affects on disease risk, act additively, and explain only part of disease heritability
* Association analysis is starting to provide data on the causes of common human diseases that should accelerate the design and development of new treatments
* Emerging technologies, including rapid, less costly sequencing of whole genomes, bring the prospect of better diagnostics and treatment
* Clinicians will need to keep updated on genetic advances that have healthcare applications

Translating genomics into improved healthcare -- Hingorani et al. 341 -- bmj.com