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Clinical Strategies in Gene Screening Counseling for the Healthy General Population

Hae Yeon Kang|Eun Kyung Choe
대한가정의학회 (The Korean Academy Of Family Medicine)|2024.03|Korean Journal of Family Medicine|제45권 제2호|pp. 61-68|DOI 10.4082/kjfm.23.0254

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참고문헌

키워드

Preventive MedicineSingle Nucleotide PolymorphismGenetic TestingMass Screening
주제분류가정의학

초록

The burgeoning interest in precision medicine has propelled an increase in the use of genome tests for screening purposes within the healthy population. Gene screening tests aim to pre-emptively identify those individuals who may be genetically predisposed to certain diseases. However, as genetic screening becomes more commonplace, it is essential to acknowledge the unique challenges it poses. A prevalent issue in this regard is the occurrence of false-positive results, which can lead to unnecessary additional tests or treatments, and psychological distress. Addition-ally, the interpretation of genomic variants is based on current research evidence, and can accordingly change as new research findings emerge, potentially altering the clinical significance of these variants. Conversely, a further prominent concern regards false assurances in genetic testing, as genetic tests can yield false-negative results, po-tentially posing a significant clinical risk. Moreover, the results obtained for the same disease can vary among differ-ent genetic testing services, due to differences in the types of variants assessed, the scope of tests, analytical meth-ods, and the algorithms used for predicting diseases. Consequently, whereas genetic testing holds significant promise for the future of medicine, it poses unique challenges. If conducted without a full understanding of its im-plications, genetic testing may fail to achieve its purpose potentially hindering effective health management. There-fore, to ensure a comprehensive understanding of the implications of genetic testing within the general population, sufficient discussion and careful consideration should be given to counseling based on gene test results.

Abstract

The burgeoning interest in precision medicine has propelled an increase in the use of genome tests for screening purposes within the healthy population. Gene screening tests aim to pre-emptively identify those individuals who may be genetically predisposed to certain diseases. However, as genetic screening becomes more commonplace, it is essential to acknowledge the unique challenges it poses. A prevalent issue in this regard is the occurrence of false-positive results, which can lead to unnecessary additional tests or treatments, and psychological distress. Addition-ally, the interpretation of genomic variants is based on current research evidence, and can accordingly change as new research findings emerge, potentially altering the clinical significance of these variants. Conversely, a further prominent concern regards false assurances in genetic testing, as genetic tests can yield false-negative results, po-tentially posing a significant clinical risk. Moreover, the results obtained for the same disease can vary among differ-ent genetic testing services, due to differences in the types of variants assessed, the scope of tests, analytical meth-ods, and the algorithms used for predicting diseases. Consequently, whereas genetic testing holds significant promise for the future of medicine, it poses unique challenges. If conducted without a full understanding of its im-plications, genetic testing may fail to achieve its purpose potentially hindering effective health management. There-fore, to ensure a comprehensive understanding of the implications of genetic testing within the general population, sufficient discussion and careful consideration should be given to counseling based on gene test results.

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