From Curiosity to Clinical Relevance: The Expanding Landscape of DTC Genomics

Vollständiger Abstract

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Introduction: The direct-to-consumer (DTC) genetic testing industry has grown substantially, enabling consumers to obtain information regarding ancestry, disease predisposition, pharmacogenomics, and various traits without the necessity of healthcare provider intervention. Marketed as tools aimed for democratizing personal health insights, direct-to-consumer genetic tests may improve genetic knowledge, promote preventative healthcare, and encourage proactive health management. Methods: The study utilized medical databases such as PubMed, Scopus, Web of Science, ScienceDirect, and Google Scholar. Results: Challenges like inadequate variant coverage, demographic bias in reference databases, inconsistent interpretation standards, and restricted access to genetic counseling raise concerns around false positives, increased anxiety, and suboptimal health decisions. Ethical and legal dilemmas about privacy, consent, and third-party data sharing intensify concerns about confidentiality, participant rights, and regulatory compliance. Discussion: Numerous tests lack recognized clinical importance and utility, while state-level regulatory control limits wider implementation. This mini-review assesses the advantages and disadvantages of direct-to-consumer genetic testing, focusing on scientific, clinical, and societal ramifications. It emphasizes the equilibrium between consumer empowerment and the dangers of disinformation, highlighting the necessity for stringent validation, transparent communication, and professional genetic counseling. Conclusion: As direct-to-consumer genetic testing becomes more accessible, it is crucial to acknowledge its advantages and drawbacks to ensure responsible utilization and to enhance its contribution to precision medicine while protecting individual and public health.