생명윤리법의 DTC 유전자검사 허용 추이에 대한 비판적 고찰 — 질병과 웰니스 항목의 불명확한 법적 구분과 그 영향 — (A Critical Review of the Permissive Trends in DTC Genetic Tests under the Bioethics and Safety Act — Implications of the Ambiguous Legal Distinction between Disease and Wellness Items —)

서지정보

· 발행기관 : 충북대학교 법학연구소
· 수록지 정보 : 과학기술과 법 / 15권 / 2호 / 1 ~ 30페이지
· 저자명 : 김훈기

초록

With the recent expansion of DTC genetic testing items to 190 in South Korea, distinguishing these tests from medical genetic tests has become increasingly challenging. Although the Bioethics and Safety Act restricts DTC genetic tests to wellness items, in practice, the distinction between wellness and disease items remains ambiguous. The inclusion of “disease-like items” among DTC tests further exacerbates consumer confusion.
This study seeks to critically examine the characteristics of legally approved DTC testing items and genes in South Korea, comparing them with those used in medical institutions, to identify key issues in DTC genetic tests and propose potential solutions. To this end, the author examined scientific validation criteria, the terminology of wellness items, and the practices of multifaceted applications involving the same gene.
First, critical scientific requirements were absent in DTC tests compared to medical tests. For instance, blind evaluation for consistency in analytic validity was omitted, and scientific validity assessments lacked mandatory statistical measures like Odds Ratio (OR) and 95% Confidence Interval (CI). Furthermore, the Minor Allele Frequency (MAF) standard was set at 0.001, which was unsuitable for Korean populations.
Second, an analysis of the 190 DTC wellness items revealed significant overlap with disease terms in the Korean Standard Classification of Diseases (KCD). Items such as blood sugar, blood pressure, and cholesterol were used not only in disease diagnoses by medical institutions but also as part of mandatory national health screenings. This overlap even extended to certain items prohibited under presidential decrees.
Third, an investigation of the 56 DTC genetic testing items and their corresponding genes approved in 2020 revealed that the same SNP markers were applied multifacetedly to items that appeared unrelated. For example, the SNP marker of the ALDH2 gene, used to assess alcohol metabolism, was also applied to tests for alcohol flushing, uric acid levels, wine preference, and sleep habits.
To enhance the utility of DTC genetic tests as health management tools, several improvements are essential. These include raising the MAF standard to 0.01, requiring mandatory disclosure of OR and 95% CI, and ensuring transparency by disclosing the names of the corresponding genes to consumers. Ultimately, revising the current classification system based on scientific evidences and safety will provide a fundamental solution to these issues.

영어초록

With the recent expansion of DTC genetic testing items to 190 in South Korea, distinguishing these tests from medical genetic tests has become increasingly challenging. Although the Bioethics and Safety Act restricts DTC genetic tests to wellness items, in practice, the distinction between wellness and disease items remains ambiguous. The inclusion of “disease-like items” among DTC tests further exacerbates consumer confusion.
This study seeks to critically examine the characteristics of legally approved DTC testing items and genes in South Korea, comparing them with those used in medical institutions, to identify key issues in DTC genetic tests and propose potential solutions. To this end, the author examined scientific validation criteria, the terminology of wellness items, and the practices of multifaceted applications involving the same gene.
First, critical scientific requirements were absent in DTC tests compared to medical tests. For instance, blind evaluation for consistency in analytic validity was omitted, and scientific validity assessments lacked mandatory statistical measures like Odds Ratio (OR) and 95% Confidence Interval (CI). Furthermore, the Minor Allele Frequency (MAF) standard was set at 0.001, which was unsuitable for Korean populations.
Second, an analysis of the 190 DTC wellness items revealed significant overlap with disease terms in the Korean Standard Classification of Diseases (KCD). Items such as blood sugar, blood pressure, and cholesterol were used not only in disease diagnoses by medical institutions but also as part of mandatory national health screenings. This overlap even extended to certain items prohibited under presidential decrees.
Third, an investigation of the 56 DTC genetic testing items and their corresponding genes approved in 2020 revealed that the same SNP markers were applied multifacetedly to items that appeared unrelated. For example, the SNP marker of the ALDH2 gene, used to assess alcohol metabolism, was also applied to tests for alcohol flushing, uric acid levels, wine preference, and sleep habits.
To enhance the utility of DTC genetic tests as health management tools, several improvements are essential. These include raising the MAF standard to 0.01, requiring mandatory disclosure of OR and 95% CI, and ensuring transparency by disclosing the names of the corresponding genes to consumers. Ultimately, revising the current classification system based on scientific evidences and safety will provide a fundamental solution to these issues.

참고자료

· 없음