PDF(Pubmed)
Abstract：
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.
摘要：
罕见疾病(RD)是一个术语，用于描述许多，在地理上不同的异质性疾病。全球约有4亿人生活在RD中，相当于大约十分之一的人。71.9%的RD具有遗传起源。RD对罕见疾病患者(PLWRD)提出了一系列独特的挑战，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。遗传遗传疾病的可能性对受影响的家庭产生重大的社会和心理影响。除了其他问题,PLWRD及其家人可能会感到污名化，经历内疚,感到责备，以及将疾病传给后代的压力。污名会影响PLWRD及其家人旅程的所有阶段，从诊断前到治疗准入，关心和支持,和合规。它不利地影响RD患者的生活质量。为了更好地探索与RD基因检测相关的污名的影响，我们在PubMed和Embase数据库上进行了文献检索,以确定2013年1月至2023年2月发表的关于污名和RD的文章.缺乏研究污名和RD基因测试动态的文献。作者观察到，在低收入和中等收入国家（LMICs）和潜在干预措施中，污名对患者预后的影响的研究是有限的。在这里，作者对已发表的关于污名的文献进行了综述，重点是RD基因检测，相关的挑战，以及解决这些问题的可能方法。
