Somanadhan Suja, Nicholson Emma, Dorris Emma, Brinkley Aoife, Kennan Avril, Treacy Eileen, Atif Awan, Ennis Sean, McGrath Vicky, Mitchell Derick, O'Sullivan Grace, Power Julie, Lawlor Anne, Harkin Paul, Lynch Sally Ann, Watt Philip, Daly Avril, Donnelly Susie, Kroll Thilo
UCD School of Nursing, Midwifery and Health Systems, University College Dublin, Belfield, County Dublin, D04 V1W8, Ireland.
UCD School of Medicine, University College Dublin, Belfield, County Dublin, D04 V1W8, Ireland.
HRB Open Res. 2020 Nov 11;3:13. doi: 10.12688/hrbopenres.13017.2. eCollection 2020.
Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey(PCS); Phase II, Research Prioritisation Workshop (RPW); Phase III, Public Prioritisation Ranking Survey (PRS). The time frame for the entire study was from November 2018 to June 2019. In total, 240 individuals completed the phase I, of which only 96 survey participants provided information on their background, 32% (n=31) self-identified as a person living with a rare disease(s). One thousand and fifteen statements were collected, which reflected issues and shared challenges in rare diseases. MSExcel was used to gain frequencies and percentages. Phase II was focused on three main themes (1) Route to Diagnosis (2) Living with Rare Disease (3) Integrated and Palliative Care. 42 participants engaged at each workshop. Seventy-five individuals completed the phase III prioritisation ranking survey and ranked the top 15 research priorities. The top five priorities were (1)Support at the time of diagnosis, (2) Diagnostic test for rare diseases (3)Education and training (4) Patient voice (5) Data sharing and integration of services for rare diseases. The research priorities identified here for rare diseases were developed jointly in collaboration with patients, families, healthcare professionals and policymakers. So, we encourage researchers, funding bodies and other stakeholders to use this priority list as a guiding document for future research work to improve the health and lives of people living with rare diseases.
罕见病单种来看是罕见的，但总体而言这些病症却很常见。目前针对罕见病的研究聚焦于疾病特定需求，而非从生命历程的角度出发。罕见病研究伙伴关系（RAinDRoP）于2018年成立，旨在汇聚爱尔兰罕见病群体中各种各样不同的声音，并形成一个研究伙伴关系。采用了参与式多阶段方法来确定罕见病的研究重点。研究过程包括三个主要阶段：第一阶段，公众咨询调查（PCS）；第二阶段，研究优先级研讨会（RPW）；第三阶段，公众优先级排序调查（PRS）。整个研究的时间框架是从2018年11月到2019年6月。总共有240人完成了第一阶段，其中只有96名调查参与者提供了他们的背景信息，32%（n = 31）自我认定为患有罕见病的人。收集了1015条陈述，这些陈述反映了罕见病中的问题和共同面临的挑战。使用MSExcel来获取频率和百分比。第二阶段聚焦于三个主要主题：（1）诊断途径；（2）与罕见病共存；（3）综合和姑息治疗。每个研讨会有42名参与者。75人完成了第三阶段的优先级排序调查，并对前15项研究重点进行了排名。前五项重点是：（1）诊断时的支持；（2）罕见病诊断测试；（3）教育与培训；（4）患者声音；（5）数据共享以及罕见病服务整合。这里确定的罕见病研究重点是与患者、家庭、医疗保健专业人员和政策制定者共同合作制定的。因此，我们鼓励研究人员、资助机构和其他利益相关者将这份重点清单用作未来研究工作的指导文件，以改善罕见病患者的健康状况和生活。
