Over the last decade, many genome wide association studies (GWAS) have been performed to identify the genetic basis of common complex diseases (such as diabetes), which are influenced by genetic variation spread across many genes. These studies utilize single nucleotide polymorphism (SNP) arrays to test the association of common genetic variants with disease. GWAS has been extremely fruitful in identifying many important genes relevant to the pathogenesis of disease, but has yet to explain a majority of the disease risk. For example, for type 2 diabetes, despite genetic studies involving tens of thousands of individuals, only about 6% of disease risk can be explained by known genetic variants captured in SNP arrays. Given the limited ability for genetic variation to explain risk for common diseases, why are so many people interested in seeking SNP genotyping services (e.g., 23andMe), and do consumers have the ability to understand the implications and nuances of the testing results?
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