Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.
Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care.
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DOI：
10.3390/jpm12030477
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发表时间：
2022-03-16
影响因子：
--
通讯作者：
Smith N
中科院分区：
文献类型：
--
作者：
Dwyer AA;Uveges MK;Dockray S;Smith N
大多数罕见疾病的病因是遗传性的，其特征是“诊断过程”。基因组学的进步有助于加快许多罕见疾病的诊断，为精确治疗开辟了新的途径。关于罕见疾病先天性低促性腺激素性腺功能减退症（CHH）的患者态度、经验和信念知之甚少。方法：我们对CHH患者（n = 58）进行了6个焦点组。成绩单由独立研究者编码，并由外部评审员验证。结果如下：与预测试经验有关的主要主题是“态度和信念”（最常被引用的主题），它揭示了利他主义作为追求研究测试和“信息和支持”的强大动力，它揭示了显着缺乏预测试决策支持/遗传咨询。主要的测试后的主题包括“返回的结果，”揭示了缺乏返回的结果和有限的情感支持的挫折感，和“家庭沟通，”描述具有挑战性的家庭内部沟通。描述伦理问题的主题（即，隐私、样本的使用）最不常被注意到，并且与测试前和测试后的经历有关。结论：CHH患者在进行测试时受到利他主义的高度激励，但在测试前的决策支持和测试后的咨询方面有显着的未满足需求。人们认为，患者的价值观，信仰和经验可以为以人为本的罕见疾病基因检测方法提供信息。
Most rare diseases are genetic in etiology and characterized by a ‘diagnostic odyssey’. Genomic advances have helped speed up the diagnosis for many rare disorders, opening new avenues for precision therapies. Little is known about patient attitudes, experiences, and beliefs about genetic testing for the rare disease congenital hypogonadotropic hypogonadism (CHH). Methods: We conducted six focus groups with patients with CHH (n = 58). Transcripts were coded by independent investigators and validated by external reviewers. Results: Major themes relating to pre-test experiences were ‘attitudes & beliefs’ (most frequently cited theme), which revealed altruism as a strong motivator for pursuing research testing and ‘information and support,’ which revealed a striking lack of pre-testing decisional support/genetic counseling. Major post-test themes included ‘return of results,’ revealing frustration with the lack of return of results and limited emotional support, and ‘family communication,’ describing challenging intrafamilial communication. Themes describing ethical concerns (i.e., privacy, use of samples) were least frequently noted and related to pre- and post-test experiences. Conclusions: Patients with CHH are highly motivated by altruism when pursuing testing but have significant unmet needs for pre-test decisional support and post-test counseling. It is regarded that patient values, beliefs and experiences can inform more person-centered approaches to genetic testing for rare diseases.
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