Dataset Information

Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview.

ABSTRACT: The increasing prevalence in polygenic diseases, such as obesity, cardiovascular disease, and type 2 diabetes, observed over the past few decades is more likely linked to a rapid transition in lifestyle rather than to changes in the sequence of the nuclear genome. In the new era of precision medicine, nutritional genomics holds the promise to be translated into tailored nutritional strategies to prevent and manage polygenic diseases more effectively. Nutritional genomics aims to prevent, treat, and manage polygenic diseases through targeted therapies formulated from individuals' genetic makeup and dietary intake. Direct-to-consumer genetic testing (DTC-GT) has become commercially available to equip individuals with information on their genetic vulnerability to different diseases. This information may potentially prompt behavioral changes against adverse factors. However, scientific evidence behind the clinical recommendations is a matter of continuous debate, and behavioral modifications after disclosing genetic information remain inconclusive. In this review, we provide an overview of nutritional genomics and related nutritional DTC-GT services and discuss whether available data are sufficient to be translated into clinical recommendations and public health initiatives. Overall, the scientific evidence supporting the dissemination of genomic information for nutrigenomic purposes remains sparse. Therefore, additional knowledge needs to be generated, particularly for polygenic traits.

SUBMITTER: Guasch-Ferre M

PROVIDER: S-EPMC5916428 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview.

Guasch-Ferré Marta M Dashti Hassan S HS Merino Jordi J

Advances in nutrition (Bethesda, Md.) 20180301 2

The increasing prevalence in polygenic diseases, such as obesity, cardiovascular disease, and type 2 diabetes, observed over the past few decades is more likely linked to a rapid transition in lifestyle rather than to changes in the sequence of the nuclear genome. In the new era of precision medicine, nutritional genomics holds the promise to be translated into tailored nutritional strategies to prevent and manage polygenic diseases more effectively. Nutritional genomics aims to prevent, treat, ...[more]

PMID: 29659694

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Project description: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 pharmacogenetic tests reported by 23andMe in their UK tests. 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 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. 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.

Project description:BackgroundThe online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public.ObjectiveThis study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services.MethodsWe performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance.ResultsPotential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information.ConclusionsBoth the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Dataset Information

Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview.

Publications

Nutritional Genomics and Direct-to-Consumer Genetic Testing: An Overview.

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