Abstract
BackgroundRapid 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 pharmacogenetic tests reported by 23andMe in their UK tests.MethodsThe 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.Results23andMe offers 12 pharmacogenetic tests to their UK customers, 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.Conclusion23andMe 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.
Highlights
Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics
Assessment of 23andMe Pharmacogenetic tests 23andMe provides pharmacogenetic reports for response to 12 drugs, which are listed in Table 1, together with the specific variants tested, the implicated gene, the phenotype tested for (adverse drug reaction (ADR), efficacy, dosage adjustment), and the United States Food & Drug Administration (FDA) recommendation
The reports provided by 23andMe to UK customers highlight the challenges of pharmacogenetic testing, some of which are unique to a single nucleotide polymorphisms (SNPs)-based genotyping platform as used by the DTC company, others of which are applicable to any technology, and any method of delivery
Summary
Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Recent advances in technology have enabled comprehensive characterization of the genetic component underlying many complex diseases, traits, and responses to medication This new information has enabled genetic testing to become more widely available in healthcare, and can be used to assess risk of inherited conditions and predict response to medication. This contrasts with genetic testing for disease variants where the increased – or decreased – risk is of immediate relevance for the participant It may be cost-effective for individuals to undergo pharmacogenetic testing once in their adult life, and store the results, informing physicians whenever a new drug is prescribed so any relevant gene-drug associations may be checked. One of the major concerns is the potential for misunderstanding and misinterpretation of the test results, when pre- or post-test genetic counselling is not provided
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