BMJ 2008;336:590-593 (15 March), doi:10.1136/bmj.39506.601053.BE
Analysis
Genetic tests for common diseases: new insights, old concerns
David Melzer, professor1, Stuart Hogarth, research fellow2, Katherine Liddell, lecturer3, Tom Ling, professor4, Simon Sanderson, research fellow 5, Ron L Zimmern, director5
1 Peninsula Medical School, University of Exeter, Exeter EX1 2LU, 2 Department of Public Health and Primary Care, University of Cambridge , 3 Cambridge Faculty of Law, University of Cambridge, 4 RAND Europe Cambridge, 5 PHG Foundation, Cambridge
Correspondence to: D Melzer david.melzer@pms.ac.uk
The clinical utility of newly identified genetic variants associated with common diseases needs evaluation
| The first 150 words of the full text of this article appear below. |
Genome-wide studies have recently identified many new variants associated with common diseases. Findings point mainly to sets of variants with modest effects, with many more markers still to be discovered. Some variants are shedding new light on disease mechanisms and on previously unsuspected parts of the genome. Much more work is needed, however, to define the clinical relevance and value to patients of testing for these new genetic markers. It is worrying that in the absence of this knowledge, commercial genetic testing services are being marketed directly to the public. In this paper we describe key findings from the new genome-wide association studies; draw attention to the currently weak regulatory systems, particularly in Europe; and argue the case for improved evaluation, greater transparency, and better regulation, so that the new genetic tests can be used in a safe and informed way.
Environmental factors are major contributors to the development of
Flood of discoveries
Clinical potential
Conundrums
What needs to change to ensure that tests are used appropriately?
Information that should be supplied for genetic tests
Summary points
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This article has been cited by other articles:
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Walley, T.
(2008). Evaluating laboratory diagnostic tests. BMJ
336: 569-570
[Full text]
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- Rigorous evaluation and regulation of genetic tests has indeed not kept pace with the genomics era
- Dr Minnie Faith
bmj.com, 14 Mar 2008 [Full text]
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