Stanford University School of Medicine.
Indiana University School of Medicine.
Am J Bioeth. 2023 Jul;23(7):17-26. doi: 10.1080/15265161.2023.2207500. Epub 2023 May 19.
Rare genetic diseases collectively impact millions of individuals in the United States. These patients and their families share many challenges including delayed diagnosis, lack of knowledgeable providers, and limited economic incentives to develop new therapies for small patient groups. As such, rare disease patients and families often must rely on advocacy, including both self-advocacy to access clinical care and public advocacy to advance research. However, these demands raise serious concerns for equity, as both care and research for a given disease can depend on the education, financial resources, and social capital available to the patients in a given community. In this article, we utilize three case examples to illustrate ethical challenges at the intersection of rare diseases, advocacy and justice, including how reliance on advocacy in rare disease may drive unintended consequences for equity. We conclude with a discussion of opportunities for diverse stakeholders to begin to address these challenges.
罕见遗传病在美国共影响着数以百万计的人群。这些患者及其家庭面临着许多挑战，包括诊断延迟、缺乏有专业知识的医疗服务提供者，以及为小患者群体开发新疗法的经济激励措施有限。因此，罕见病患者及其家庭通常必须依靠宣传，包括自我倡导以获得临床护理和公共宣传以推进研究。然而，这些需求引发了对公平性的严重关注，因为特定疾病的护理和研究可能取决于特定社区中患者的教育、财务资源和社会资本。在本文中，我们利用三个案例来说明罕见病、宣传和正义之间的伦理挑战，包括在罕见病中依赖宣传可能会对公平性产生意想不到的后果。最后，我们讨论了多元化利益相关者开始应对这些挑战的机会。
