Copyright © 2008 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 82, Issue 3, 593-599, 3 March 2008
doi:10.1016/j.ajhg.2007.12.020
Article
A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
A. Cecile J.W. Janssens1, 
, 
, Marta Gwinn2, Linda A. Bradley2, Ben A. Oostra3, Cornelia M. van Duijn4 and Muin J. Khoury2
1 Department of Public Health, Erasmus MC University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
2 National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
3 Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
4 Department of Epidemiology & Biostatistics, Erasmus MC, University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Corresponding authorAbstract
Predictive genomic profiling used to produce personalized nutrition and other lifestyle health recommendations is currently offered directly to consumers. By examining previous meta-analyses and HuGE reviews, we assessed the scientific evidence supporting the purported gene-disease associations for genes included in genomic profiles offered online. We identified seven companies that offer predictive genomic profiling. We searched PubMed for meta-analyses and HuGE reviews of studies of gene-disease associations published from 2000 through June 2007 in which the genotypes of people with a disease were compared with those of a healthy or general-population control group. The seven companies tested at least 69 different polymorphisms in 56 genes. Of the 56 genes tested, 24 (43%) were not reviewed in meta-analyses. For the remaining 32 genes, we found 260 meta-analyses that examined 160 unique polymorphism-disease associations, of which only 60 (38%) were found to be statistically significant. Even the 60 significant associations, which involved 29 different polymorphisms and 28 different diseases, were generally modest, with synthetic odds ratios ranging from 0.54 to 0.88 for protective variants and from 1.04 to 3.2 for risk variants. Furthermore, genes in cardiogenomic profiles were more frequently associated with noncardiovascular diseases than with cardiovascular diseases, and though two of the five genes of the osteogenomic profiles did show significant associations with disease, the associations were not with bone diseases. There is insufficient scientific evidence to conclude that genomic profiles are useful in measuring genetic risk for common diseases or in developing personalized diet and lifestyle recommendations for disease prevention.
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