Abstract
Direct-to-consumer (DTC) DNA testing has grown from contentious beginnings into a global industry, by providing a wide range of personal genomic information directly to its clients. These companies, typified by the well-established 23andMe, generally carry out a gene-chip analysis of single-nucleotide polymorphisms (SNPs) using DNA extracted from a saliva sample. These genetic data are then assimilated and provided direct to the client, with varying degrees of interpretation. Although much debate has focused on the limitations and ethical aspects of providing genotypes for disease risk alleles, the provision of pharmacogenetic results by DTC companies is less studied. We set out to evaluate current DTC pharmacogenetics offerings, and then to consider how these services might best evolve and adapt in order to play a potentially useful future role in delivery of personalized medicine.
Highlights
The provision of direct-to-consumer (DTC) genotyping services gives patients access to personal genetic information that is often of uncertain value, and that the majority of medical professionals are not sufficiently confident of handling (Stanek et al, 2012)
Setting aside debates around the value and dangers of genotyping risk alleles for complex disease, we focus here on the pharmacogenetic information currently provided by DTC companies, and assess the value and limitations of this information
WHAT IS THE FUTURE FOR DTC PHARMACOGENETICS/PHARMACOGENOMICS? As we have shown, current DTC pharmacogenetics offerings are significantly limited in scope and utility
Summary
The provision of direct-to-consumer (DTC) genotyping services gives patients access to personal genetic information that is often of uncertain value, and that the majority of medical professionals are not sufficiently confident of handling (Stanek et al, 2012). Chip-based platforms interrogate very large numbers of variants, but tend to be less adaptable due to production costs Some companies, such as 23andMe, employ a gene-chip genotyping approach that provides genome-wide targeted probing of about one million single-nucleotide polymorphisms (SNPs), and others, such as Genelex, use more readily customizable PCR-based genotyping platforms. CURRENT DTC PHARMACOGENETICS OFFERINGS Our review of DTC pharmacogenetic testing services illustrated that current offerings in the pharmacogenomics space are patchy and quite limited These limitations occur at the level of the specific genes selected for genotyping, which in many cases is governed by the technology platform used (as mentioned above), and in the range of gene variants or alleles that are genotyped.
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