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Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe

Mengfei Lu, View ORCID ProfileCathryn M Lewis, View ORCID ProfileMatthew Traylor
doi: https://doi.org/10.1101/098541
Mengfei Lu
King's College London
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Cathryn M Lewis
King's College London
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Matthew Traylor
King's College London
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  • For correspondence: mt628@medschl.cam.ac.uk
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Abstract

Background: Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of such pharmacogenetic tests reported by 23andMe. Methods: The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity. A wider literature search was performed to provide a fuller assessment of the pharmacogenetic test and variants were matched to FDA recommendations. Additional evidence from CPIC guidelines, PharmGKB, and Dutch Pharmacogenetics Working Group was reviewed to determine current clinical practice. The value of the tests across ethnic groups was determined, including information on linkage disequilibrium between the tested SNP and causal pharmacogenetic variant, where relevant. Results: 23andMe offers 12 pharmacogenetic tests, some of which are in standard clinical practice, and others which are less widely applied. The clinical validity and clinical utility varies extensively between tests. The variants tested are likely to have different degrees of sensitivity due to different risk allele frequencies and linkage disequilibrium patterns across populations. The clinical relevance depends on the ethnicity of the individual and variability of pharmacogenetic markers. Further research is required to determine causal variants and provide more complete assessment of drug response and side effects. Conclusion: 23andMe reports provide some useful pharmacogenetics information, mirroring clinical tests that are in standard use. Other tests are unspecific, providing limited guidance and may not be useful for patients without professional interpretation. Nevertheless, DTC companies like 23andMe act as a powerful intermediate step to integrate pharmacogenetic testing into clinical practice.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted January 05, 2017.
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Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe
Mengfei Lu, Cathryn M Lewis, Matthew Traylor
bioRxiv 098541; doi: https://doi.org/10.1101/098541
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Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe
Mengfei Lu, Cathryn M Lewis, Matthew Traylor
bioRxiv 098541; doi: https://doi.org/10.1101/098541

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