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소비자직접의뢰(Direct-to-Consumer) 유전자검사의 현황과 전망

Current Landscape and Perspectives of Direct-to-Consumer Genetic Testing

Yim Jisook
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2024.07|Laboratory Medicine Online|제14권 제3호|pp. 191-200|DOI 10.47429/lmo.2024.14.3.191

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RegulationTrendGenetic testingDTCDirect-to-consumer

초록

소비자가 직접 유전자검사를 의뢰할 수 있는 소비자직접의뢰(direct-to-consumer, DTC) 유전자검사가 점차 보편화되면서 검사 범위도 확대되고 있다. 과거 의료전문가에 의해 수행되던 유전자검사가 DTC 검사를 통해 접근성과 비용효율성이 크게 향상되었고, 이제는 건강, 영양, 혈통 등 비의료적 정보뿐 아니라 일부 국가에서는 특정 질병 관련 데이터까지 제공하고 있다. 그러나 DTC 검사는 견고한 과학적 기반 미흡, 정보 신뢰성 문제, 개인정보 보호 위험 등 중대한 과제에 직면해 있으며, 이에 따라 포괄적 규제와 효과적 관리 전략 마련이 시급히 요구된다. 본 종설에서는 DTC 검사의 개요와 검사방법, 제공정보 유형을 소개하고, 국내외 DTC 검사 현황과 규제 환경을 심층 분석함으로써 DTC 검사의 장단점을 가늠해 보고자 한다. 나아가 이를 통해 DTC 유전자검사 산업의 향후 전망과 발전방향을 조명해보고자 한다.

Abstract

The direct-to-consumer (DTC) genetic testing approach, which enables consumers to directly request genetic tests, is gradually becoming more prevalent, with the scope of testing also expanding. Genetic tests traditionally performed by medical professionals have seen a significant improvement in accessibility and cost-effectiveness through DTC testing. This has allowed the provision of non-medical information, such as insights into health, nutrition, and ancestry, and data related to specific diseases in some countries. However, DTC genetic testing faces significant challenges, including a lack of a robust scientific foundation, concerns over the reliability of the information provided, and increased risks to personal data privacy. Consequently, there is an urgent need for comprehensive regulation and effective management strategies. This review provides an overview of DTC testing, testing methodologies, and the types of information offered while conducting an in-depth analysis of the current domestic and global landscape of DTC testing and the regulatory environment, thereby gauging the advantages and limitations of DTC genetic testing. Furthermore, by leveraging these analyses, this review aims to shed light on the future prospects and developmental trajectories for the DTC genetic testing industry.

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