Participation in a national diagnostic research study: assessing the patient experience.
Participation in a national diagnostic research study: assessing the patient experience.
复制标题
DOI：
10.1186/s13023-023-02695-5
复制
发表时间：
2023-04-10
影响因子：
3.7
通讯作者：
McCray AT
中科院分区：
文献类型：
--
作者：
Rosenfeld LE;LeBlanc K;Nagy A;Ego BK;Undiagnosed Diseases Network;McCray AT
未诊断疾病网络（UDN）是由美国国立卫生研究院资助的一项临床研究，旨在为患有未诊断疾病的患者提供答案，并产生有关潜在疾病机制的知识。UDN评估涉及临床医生和研究人员之间的合作，并超越了临床环境中的可能性。虽然UDN评估的医学和研究结果已经被探索，但这是对患者和护理人员经验的第一次正式评估。 我们邀请UDN参与者和护理人员通过电子邮件、时事通讯和私人参与者Facebook小组参加焦点小组。我们根据研究团队的专业知识、关注罕见和未确诊疾病患者的文献以及UDN参与者和家庭成员的反馈制定了焦点小组问题。于2021年3月，我们透过Zoom进行、录制及转录四个60分钟焦点小组。成绩单进行了评估，使用专题分析方法。未确诊的成人焦点小组将UDN评估描述为验证和获得医疗服务提供者的途径。他们还指出，这一经历影响了他们的专业选择，并帮助他们依靠他人的支持。成人诊断焦点小组将医疗保健系统描述为不为罕见疾病而建立。在儿科未确诊的焦点小组中，护理人员讨论了对UDN评估的持续信息和感激的愿望。他们还描述了一种排除信息和接受没有答案的能力。儿科诊断焦点小组讨论了经验如何帮助他们专注于管理和改善沟通。在焦点小组中，成年人（未诊断/诊断）注意到评估的全面性。未确诊的焦点小组（成人/儿童）讨论了与UDN进行持续沟通和护理的愿望。诊断焦点小组（成人/儿童）强调了他们在UDN中接受的诊断的重要性。大多数重点小组在参加后指出了积极的未来方向。我们的研究结果与之前的文献一致，这些文献关注罕见和未确诊疾病的患者经历，并强调了全面评估的益处，无论是否获得诊断。焦点小组的主题也提出了与诊断奥德赛相关的改进领域和未来研究。
The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease mechanisms. UDN evaluations involve collaboration between clinicians and researchers and go beyond what is possible in clinical settings. While medical and research outcomes of UDN evaluations have been explored, this is the first formal assessment of the patient and caregiver experience. We invited UDN participants and caregivers to participate in focus groups via email, newsletter, and a private participant Facebook group. We developed focus group questions based on research team expertise, literature focused on patients with rare and undiagnosed conditions, and UDN participant and family member feedback. In March 2021, we conducted, recorded, and transcribed four 60-min focus groups via Zoom. Transcripts were evaluated using a thematic analysis approach. The adult undiagnosed focus group described the UDN evaluation as validating and an avenue for access to medical providers. They also noted that the experience impacted professional choices and helped them rely on others for support. The adult diagnosed focus group described the healthcare system as not set up for rare disease. In the pediatric undiagnosed focus group, caregivers discussed a continued desire for information and gratitude for the UDN evaluation. They also described an ability to rule out information and coming to terms with not having answers. The pediatric diagnosed focus group discussed how the experience helped them focus on management and improved communication. Across focus groups, adults (undiagnosed/diagnosed) noted the comprehensiveness of the evaluation. Undiagnosed focus groups (adult/pediatric) discussed a desire for ongoing communication and care with the UDN. Diagnosed focus groups (adult/pediatric) highlighted the importance of the diagnosis they received in the UDN. The majority of the focus groups noted a positive future orientation after participation. Our findings are consistent with prior literature focused on the patient experience of rare and undiagnosed conditions and highlight benefits from comprehensive evaluations, regardless of whether a diagnosis is obtained. Focus group themes also suggest areas for improvement and future research related to the diagnostic odyssey.
登录
查看更多内容
影响因子：
3.2
作者：
Hsieh, HF;Shannon, SE
通讯作者：
Shannon, SE
影响因子：
1.9
作者：
Palmer CGS;McConkie-Rosell A;Holm IA;LeBlanc K;Sinsheimer JS;Briere LC;Dorrani N;Herzog MR;Lincoln S;Schoch K;Spillmann RC;Brokamp E;Undiagnosed Diseases Network
通讯作者：
Undiagnosed Diseases Network
影响因子：
3.3
作者：
Michelson, Jeremy
通讯作者：
Michelson, Jeremy
DOI：
10.1002/ajmg.a.61558
发表时间：
2020-06
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Burdick KJ;Cogan JD;Rives LC;Robertson AK;Koziura ME;Brokamp E;Duncan L;Hannig V;Pfotenhauer J;Vanzo R;Paul MS;Bican A;Morgan T;Duis J;Newman JH;Hamid R;Phillips JA 3rd;Undiagnosed Diseases Network
通讯作者：
Undiagnosed Diseases Network
影响因子：
2.6
作者：
Basel, Donald;McCarrier, Julie
通讯作者：
McCarrier, Julie