Sussman Jonathan H, Dagli Mert Marcel, Wald Shira L, Akhtar Saad S, Natan Keanu, Xu Jessica A, Li Alexander, Dawson Brian, Welch William C
Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
University of Pennsylvania School of Dental Medicine, Philadelphia, PA, USA.
Public Health Rep. 2025 Sep 7:333549251362711. doi: 10.1177/00333549251362711.
Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.
The Pennsylvania Rare Disease Advisory Council conducted a Rare Disease Needs Assessment Survey from September 2020 through January 2023. The survey, distributed through multiple channels, collected responses from patients, caregivers, and rare disease advocates in Pennsylvania. We analyzed quantitative and qualitative data on diagnosis, health care access, financial burden, and psychosocial support.
A total of 1214 respondents participated, representing a diverse spectrum of rare diseases and demographic groups. More than half (57.8%) of respondents indicated diagnostic delays of ≥1 year, which were associated with additional misdiagnoses, increased annual spending, out-of-state travel, and reduced work and school hours; however, diagnostic delays were not associated with disease category. Many respondents (48.5%) reported >$5000 in annual spending related to care for their rare disease, and 24.9% were unable to access medications because of financial reasons. Diagnostic delays were associated with worse perspectives on the efficacy of care across multiple domains even after a correct diagnosis was achieved. Patients aged 0 to 20 years had a faster time to diagnosis than patients aged >20 years did.
Patients with rare diseases in Pennsylvania face substantial barriers to diagnosis, specialized care, and financial support. Despite policy initiatives, gaps remain in genetic testing access, specialist availability, and psychosocial resources. Addressing these issues through improved diagnostics, expanded access to care, and targeted policy changes is essential to enhancing patient outcomes and quality of life.
在美国，罕见病总共影响约3000万人。尽管基因组医学取得了进展，但由于对医疗保健资源的认识有限、获取机会不足以及资源分配不均，早期诊断仍具有挑战性。我们评估了宾夕法尼亚州罕见病患者的实际经历，并评估了延迟诊断对心理社会和经济负担的影响。
宾夕法尼亚州罕见病咨询委员会在2020年9月至2023年1月期间进行了一项罕见病需求评估调查。该调查通过多种渠道分发，收集了宾夕法尼亚州患者、护理人员和罕见病倡导者的回复。我们分析了关于诊断、医疗保健获取、经济负担和心理社会支持的定量和定性数据。
共有1214名受访者参与，代表了各种罕见病和人口群体。超过一半（57.8%）的受访者表示诊断延迟≥1年，这与更多的误诊、年度支出增加、州外就医以及工作和学习时间减少有关；然而，诊断延迟与疾病类别无关。许多受访者（48.5%）报告称，与罕见病护理相关的年度支出超过5000美元，24.9%的人因经济原因无法获得药物。即使在确诊后，诊断延迟在多个领域也与对护理效果的更负面看法相关。0至20岁的患者比20岁以上的患者诊断时间更快。
宾夕法尼亚州的罕见病患者在诊断、专科护理和经济支持方面面临重大障碍。尽管有政策举措，但在基因检测获取、专科医生可用性和心理社会资源方面仍存在差距。通过改进诊断、扩大护理获取机会和有针对性的政策改变来解决这些问题，对于改善患者预后和生活质量至关重要。
