Abstract
This report is of a round-table discussion held in Cardiff in September 2009 for Cesagen, a research centre within the Genomics Network of the UK’s Economic and Social Research Council. The meeting was arranged to explore ideas as to the likely future course of human genomics. The achievements of genomics research were reviewed, and the likely constraints on the pace of future progress were explored. New knowledge is transforming biology and our understanding of evolution and human disease. The difficulties we face now concern the interpretation rather than the generation of new sequence data. Our understanding of gene-environment interaction is held back by our current primitive tools for measuring environmental factors, and in addition, there may be fundamental constraints on what can be known about these complex interactions.
Highlights
The advent of ‘high throughput’ or ‘ generation’ genomic sequencing technologies has raised expectations of what laboratory genetics has, and will have, to offer to both the clinician and the patient
* Correspondence: clarkeaj@cardiff.ac.uk 1Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales CF14 4XN, UK Full list of author information is available at the end of the article. Such questions were addressed at a round-table discussion held in Cardiff in September 2009. This was arranged as part of the work programme of Cesagen, a joint research centre at the Universities of Cardiff (Wales) and Lancaster (England) established by the UK’s Economic and Social Research Council as part of its Genomics Network
Cesagen studies the societal impact of developments in genetics and genomics; the meeting was arranged to explore and discuss ideas as to the likely future course of human genomics
Summary
The advent of ‘high throughput’ or ‘ generation’ genomic sequencing technologies has raised expectations of what laboratory genetics has, and will have, to offer to both the clinician and the patient. Improved methods of measuring environmental factors and their behavioural correlates are clearly required for the full benefits of the progress in genome sequencing to be attained; these measurements should be made without lapsing into implicitly deterministic assumptions This model has led to the neglect of new mutants arising from existing variants during the turnover of the allelic spectrum of common disease. Limited clinical utility of genetic association Wallace set out her answer to the important question, ‘What are the (biological) limits to the predictive value and clinical utility of the ‘predict and prevent’ strategy?’ An early approach to this led to the conclusion that environmental interventions targeted by genotype might significantly reduce the incidence of some diseases [60], dependent on the magnitude of gene-environment interactions (in the statistical sense of their influence on risk at a population level). Only a small proportion of the calculated heritability has yet been identified for any common disease [67]
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