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与遗传性肿瘤易感性综合征基因检测相关的伦理和社会心理问题。

Ethical and Psychosocial Issues Associated with Genetic Testing for Hereditary Tumor Predisposition Syndromes.

作者信息

Hachmeriyan Mari, Levkova Mariya, Yahya Dinnar, Stoyanova Milena, Dimitrova Eleonora

机构信息

Department of Medical Genetics, Medical University Varna, 9000 Varna, Bulgaria.

Laboratory of Medical Genetics, University Hospital "Sveta Marina", 1 Hristo Smirnensky Str., 9000 Varna, Bulgaria.

出版信息

Healthcare (Basel). 2025 Apr 11;13(8):880. doi: 10.3390/healthcare13080880.

Abstract

Hereditary tumor predisposition syndromes (HTPSs) significantly increase the risk of developing various cancers, often at earlier ages than seen in the general population. The development and application of next-generation sequencing (NGS) has revolutionized the identification of individuals with HTPS, facilitating early diagnosis, personalized risk assessment, and tailored preventive strategies. However, the widespread implementation of genetic testing for HTPS presents complex ethical and psychosocial issues. This paper examines key ethical considerations surrounding genetic testing for HTPS, including the following: the distinct nature of genetic information and its implications for families; the challenges of informed consent amidst evolving genetic knowledge and direct-to-consumer testing; the complexities of predictive and presymptomatic testing, particularly in minors; and the implications of incidental findings. It further explores the critical issue of genetic discrimination, particularly concerning insurance, employment, and social stigmatization. This paper highlights the importance of balancing individual rights, such as autonomy and privacy, with familial responsibilities and the potential benefits of early detection and intervention. It also underscores the need for robust legal frameworks, comprehensive genetic counseling, and ongoing public education to address the ethical and psychosocial challenges associated with genetic testing for HTPS, with the ultimate goal of maximizing the benefits of genomic medicine while minimizing potential harms.

摘要

遗传性肿瘤易感性综合征(HTPSs)显著增加了患各种癌症的风险,发病年龄往往比普通人群更早。下一代测序(NGS)技术的发展与应用彻底改变了HTPS个体的识别方式,有助于早期诊断、个性化风险评估以及制定针对性的预防策略。然而,HTPS基因检测的广泛应用带来了复杂的伦理和社会心理问题。本文探讨了围绕HTPS基因检测的关键伦理考量,包括以下方面:基因信息的独特性质及其对家庭的影响;在不断发展的基因知识和直接面向消费者的检测背景下获得知情同意的挑战;预测性和症状前检测的复杂性,尤其是在未成年人中;以及偶然发现的影响。本文还进一步探讨了基因歧视这一关键问题,特别是在保险、就业和社会污名化方面。本文强调了平衡个人权利(如自主权和隐私权)与家庭责任以及早期检测和干预潜在益处的重要性。它还强调了需要强有力的法律框架、全面的遗传咨询以及持续的公众教育,以应对与HTPS基因检测相关的伦理和社会心理挑战,最终目标是在最大限度减少潜在危害的同时,最大化基因组医学的益处。

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