Direct-to-Consumer Genetic Testing: Reliable or Risky?

Washington University/Barnes-Jewish Hospital, St. Louis, MO, USA.
Clinical Chemistry (Impact Factor: 7.91). 09/2011; 57(12):1641-4. DOI: 10.1373/clinchem.2011.167197
Source: PubMed
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Available from: Christina M Lockwood, Feb 07, 2016
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    • "In addition, companies selling DTC genetic tests can develop and market them without establishing clinical utility, which contrasts significantly to that demanded for pharmacogenomic biomarkers discussed earlier in this paper. The lack of regulatory oversight and concern of test validity likely contribute to the conclusion that most DTC genetic tests are not useful in predicting disease risk [134, 135]. Current knowledge suggests that genomic profiling based on a single SNP, a common feature to most DTC genetic tests, is not necessarily clinically accurate or useful. "
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    ABSTRACT: The mapping of the human genome and subsequent advancements in genetic technology had provided clinicians and scientists an understanding of the genetic basis of altered drug pharmacokinetics and pharmacodynamics, as well as some examples of applying genomic data in clinical practice. This has raised the public expectation that predicting patients' responses to drug therapy is now possible in every therapeutic area, and personalized drug therapy would come sooner than later. However, debate continues among most stakeholders involved in drug development and clinical decision-making on whether pharmacogenomic biomarkers should be used in patient assessment, as well as when and in whom to use the biomarker-based diagnostic tests. Currently, most would agree that achieving the goal of personalized therapy remains years, if not decades, away. Realistic application of genomic findings and technologies in clinical practice and drug development require addressing multiple logistics and challenges that go beyond discovery of gene variants and/or completion of prospective controlled clinical trials. The goal of personalized medicine can only be achieved when all stakeholders in the field work together, with willingness to accept occasional paradigm change in their current approach.
    Preview · Article · Feb 2013
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    • "To apply exome or whole genome sequencing (WGS) in the clinical setting, the standard of its performance must be at a level that is equivalent to other diagnostic tests. In the United States, compliance with Clinical Laboratory Improvement Amendments (CLIA) is considered to be a hallmark of quality for laboratory tests (Frueh et al., 2011; Spencer et al., 2011). Most currently available DTC genetic tests are conducted in laboratories with CLIA or equivalent levels of certification. "
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    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.
    Full-text · Article · Aug 2012 · Frontiers in Pharmacology
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    ABSTRACT: Purpose: Direct-to-consumer personal genomic tests are widely available, but population-based data are limited on awareness and use of these tests among the general public in the United States. Methods: We assessed awareness and use of direct-to-consumer personal genomic tests in Connecticut, Michigan, Oregon, and Utah using the 2009 Behavioral Risk Factor Surveillance System and compared the state results to the 2008 national HealthStyles survey results. Results: Awareness was the highest in Oregon (29.1%) and the lowest in Michigan (15.8%). Factors associated with awareness across all states and nationally were higher education, higher income, and increasing age, except among those 75 years or older. Less than 1% of respondents had used the tests, with about one-half to three-quarters of those sharing the results with a health-care provider. Conclusions: Awareness of direct-to-consumer genetic tests is greater in this study as compared with a related study conducted in 2006, whereas use is similarly low in both studies. The few respondents who reported using the tests often reported sharing their results with their health-care provider, indicating an important opportunity for health-care providers to offer patient education regarding these tests. Public health agencies have important roles in surveillance, education, and policy development on direct-to-consumer genomic tests.
    Full-text · Article · Jul 2012 · Genetics in medicine: official journal of the American College of Medical Genetics
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