Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are geographically disparate. Approximately 400 million people worldwide live with an RD equating to roughly 1 in 10 people, with 71.9% of RDs having a genetic origin. RDs present a distinctive set of challenges to people living with rare diseases (PLWRDs), their families, healthcare professionals (HCPs), healthcare system, and societies at large. The possibility of inheriting a genetic disease has a substantial social and psychological impact on affected families. In addition to other concerns, PLWRDs and their families may feel stigmatized, experience guilt, feel blamed, and stress about passing the disease to future generations. Stigma can affect all stages of the journey of PLWRDs and their families, from pre-diagnosis to treatment access, care and support, and compliance. It adversely impacts the quality of life of RD patients. To better explore the impact of stigma associated with genetic testing for RDs, we conducted a literature search on PubMed and Embase databases to identify articles published on stigma and RDs from January 2013 to February 2023. There is a dearth of literature investigating the dynamics of stigma and RD genetic testing. The authors observed that the research into the implications of stigma for patient outcomes in low- and middle-income countries (LMICs) and potential interventions is limited. Herein, the authors present a review of published literature on stigma with a focus on RD genetic testing, the associated challenges, and possible ways to address these.

中文翻译：

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与罕见疾病基因检测相关的耻辱——原因和建议

罕见病 (RD) 是一个术语，用于描述分布在不同地区的多种异质疾病。全球约有 4 亿人患有 RD，大约相当于十分之一的人患有 RD，其中 71.9% 的 RD 具有遗传起源。 RD 给罕见病患者 (PLWRD)、他们的家人、医疗保健专业人员 (HCP)、医疗保健系统和整个社会带来了一系列独特的挑战。遗传遗传病的可能性会对受影响的家庭产生重大的社会和心理影响。除了其他担忧之外，艾滋病毒感染者及其家人可能会感到耻辱、内疚、受到责备，以及将疾病传给子孙后代的压力。耻辱感会影响艾滋病毒感染者及其家人的各个阶段，从预诊断到治疗、护理和支持以及依从性。它对 RD 患者的生活质量产生不利影响。为了更好地探讨与 RD 基因检测相关的耻辱的影响，我们对 PubMed 和 Embase 数据库进行了文献检索，以识别 2013 年 1 月至 2023 年 2 月发表的有关耻辱和 RD 的文章。缺乏研究耻辱动态的文献和RD基因检测。作者观察到，关于耻辱对低收入和中等收入国家 (LMIC) 患者结果的影响以及潜在干预措施的研究有限。在此，作者对已发表的有关耻辱感的文献进行了综述，重点关注 RD 基因检测、相关挑战以及解决这些问题的可能方法。