Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?
- 20 November 2009
- journal article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 127 (2), 125-134
- https://doi.org/10.1007/s00439-009-0767-x
Abstract
Recent research into the human genome has generated a wealth of scientific knowledge and increased both public and professional interest in the concept of personalised medicine. Somewhat unexpectedly, in addition to increasing our understanding about the genetic basis for numerous diseases, these new discoveries have also spawned a burgeoning new industry of 'consumer genetic testing'. In this paper, we present the principles learnt though the evaluation of tests for single gene disorders and suggest a comparable framework for the evaluation of genetic tests for susceptibility to common complex diseases. Both physicians and the general public will need to be able to assess the claims made by providers of genetic testing services, and ultimately policy-makers will need to decide if and when such tests should be offered through state funded healthcare systems.Keywords
This publication has 64 references indexed in Scilit:
- Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsProceedings of the National Academy of Sciences of the United States of America, 2009
- Genetic Risk Prediction — Are We There Yet?New England Journal of Medicine, 2009
- Genetic testing in asymptomatic minors: recommendations of the European Society of Human GeneticsEuropean Journal of Human Genetics, 2009
- Personal genomics services: whose genomes?European Journal of Human Genetics, 2009
- Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testingEuropean Journal of Human Genetics, 2009
- An Unwelcome Side Effect of Direct-to-Consumer Personal Genome TestingJAMA, 2008
- Putting science over supposition in the arena of personalized genomicsNature Genetics, 2008
- Polygenes, Risk Prediction, and Targeted Prevention of Breast CancerNew England Journal of Medicine, 2008
- A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health InterventionsAmerican Journal of Human Genetics, 2008
- Replicating genotype–phenotype associationsNature, 2007