Pearce Emily, Majid Alina, Brown Toniya, Wilsnack Catherine, Rising Camella, Thompson Ashley S, Shepherd Rowan Forbes, Niknafs Arman, Werner-Lin Allison, Gilkey Melissa B, Ribisl Kurt M, Hutson Sadie P, Han Paul K J, Savage Sharon A
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Office of the Associate Director, Healthcare Delivery Research Program, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
SSM Qual Res Health. 2024 Dec;6. doi: 10.1016/j.ssmqr.2024.100486. Epub 2024 Oct 5.
Medical uncertainty may cause distress and challenge medical decision-making for patients with rare diseases and their caregivers. Few studies have examined the experience and management of medical uncertainty in rare disease and the dynamics of multiple medical uncertainty sources, issues, and management strategies.
We explored the experience and management of uncertainty in individuals with telomere biology disorders (TBDs), a set of rare cancer-prone bone marrow failure syndromes, and their caregivers.
Participants (N=32) in this qualitative-descriptive study were individuals with a TBD (n=17) and/or their caregivers (n=15). We thematically analyzed transcripts to describe the presence and dynamics of medical uncertainty in TBDs using categories from a previously published taxonomy.
Individuals with TBDs and caregivers described medical uncertainty as a chronic burden embodied amidst a range of interrelated sources and issues. included diagnostic and prognostic ambiguity. focused on logistical challenges of building and maintaining medical care teams. included difficulty realigning self-identity, goals, and relationship expectations post-diagnosis. Scientific, practical, and personal uncertainty issues were entangled. The rarity of TBDs resulted in limited scientific knowledge, which gave rise to practical and personal uncertainties affecting medical decision-making and relationship formation (e.g., creating trusted care teams where patient knowledge of TBDs may exceed that of clinicians). Participants used multiple strategies for uncertainty management, particularly information-seeking and community-building. However, these management strategies could intensify, rather than resolve, participants' medical uncertainty.
In TBDs, medical uncertainty manifests as a network of multiple, interrelated, sources and issues, which require evolving management strategies. Researchers must be mindful that complex, synergistic uncertainty networks contribute to psychosocial challenges in TBDs. Additional research is warranted to address scientific uncertainty in TBDs, including clinical manifestations and underlying biology, and to develop psychosocial interventions that recognize and anticipate evolving uncertainty.
医学不确定性可能给罕见病患者及其护理人员带来困扰，并对医疗决策构成挑战。很少有研究探讨罕见病中医学不确定性的体验与管理，以及多种医学不确定性来源、问题和管理策略的动态变化。
我们探讨了患有端粒生物学障碍（TBDs）的个体及其护理人员对不确定性的体验与管理，TBDs是一组易患癌症的罕见骨髓衰竭综合征。
这项定性描述性研究的参与者（N = 32）为患有TBDs的个体（n = 17）和/或其护理人员（n = 15）。我们对访谈记录进行了主题分析，使用先前发表的分类法中的类别来描述TBDs中医学不确定性的存在及动态变化。
患有TBDs的个体及其护理人员将医学不确定性描述为一种长期负担，体现在一系列相互关联的来源和问题之中。包括诊断和预后的模糊性。关注组建和维持医疗团队的后勤挑战。包括诊断后重新调整自我认同、目标和关系期望的困难。科学、实际和个人的不确定性问题相互交织。TBDs的罕见性导致科学知识有限，从而产生影响医疗决策和关系形成的实际和个人不确定性（例如，组建值得信赖的医疗团队时，患者对TBDs的了解可能超过临床医生）。参与者使用多种策略来管理不确定性，尤其是信息寻求和社区建设。然而，这些管理策略可能会加剧而非解决参与者的医学不确定性。
在TBDs中，医学不确定性表现为一个由多个相互关联的来源和问题构成的网络，需要不断发展管理策略。研究人员必须注意，复杂的协同不确定性网络会给TBDs带来心理社会挑战。有必要进行更多研究，以解决TBDs中的科学不确定性，包括临床表现和潜在生物学机制，并开发能够认识和预测不断变化的不确定性的心理社会干预措施。
