Clark Amy, Wallingford Courtney K, Krause Molly, Renton Heather, Yanes Tatiane, Jacobs Chris, Brett Gemma, McInerney-Leo Aideen
The Frazer Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia.
Department of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
J Genet Couns. 2025 Jun;34(3):e1996. doi: 10.1002/jgc4.1996. Epub 2024 Nov 29.
Despite affecting a small portion of the population, rare conditions have a significant impact, collectively affecting around 300 million people worldwide. Historically, early diagnosis has been impeded by failure to recognize rare conditions and order/refer for appropriate genomic testing. The advancements in genome sequencing offer a more agnostic and accelerated approach to the identification and diagnosis of rare disorders, potentially improving health outcomes, reducing the impact of disability, and reducing financial and psychological burdens on families. Due to the complex nature of these conditions, early engagement with genomic testing and clinical genetics services is key to facilitating a diagnosis. This qualitative exploration aimed to understand the journey to genomic testing and services and identify the supports families need during the diagnostic period. We conducted semi-structured interviews with 24 parents of children with a rare condition. Interviews were analyzed using inductive reflexive thematic analysis. Three themes of the parent experience were identified (1) the need for a streamlined pathway through the healthcare system, (2) the value of healthcare professionals who listen to parents, believed them, and partnered with them, and (3) the power of accurate diagnosis. Our findings indicate that providing direct and timely access to genomic testing for patients with a suspected rare condition could alleviate psychological and financial stressors. Genetic counselors are adept at supporting families affected by rare conditions and are optimally placed to facilitate timely access to genomic testing. Improving timely access may be facilitated through educating primary care physicians and embedding genetic counselors in pediatric settings.
尽管罕见病只影响一小部分人口，但它们产生的影响却非常重大，全球总计约有3亿人受到影响。从历史上看，由于未能识别罕见病以及未安排/转诊进行适当的基因检测，早期诊断一直受到阻碍。基因组测序技术的进步为罕见病的识别和诊断提供了一种更具通用性且加速的方法，有可能改善健康状况、减轻残疾影响，并减轻家庭的经济和心理负担。由于这些疾病的复杂性，尽早参与基因检测和临床遗传学服务是促成诊断的关键。这项定性研究旨在了解基因检测和服务的过程，并确定家庭在诊断期间所需的支持。我们对24位患有罕见病儿童的家长进行了半结构化访谈。访谈采用归纳反思主题分析法进行分析。确定了家长经历的三个主题：（1）需要一条简化的医疗系统途径；（2）倾听家长、信任家长并与家长合作的医护人员的价值；（3）准确诊断的力量。我们的研究结果表明，为疑似患有罕见病的患者提供直接、及时的基因检测可以减轻心理和经济压力。遗传咨询师擅长为受罕见病影响的家庭提供支持，并且处于最佳位置以促进及时获得基因检测。通过对初级保健医生进行教育并在儿科环境中配备遗传咨询师，可能有助于改善及时获得检测的情况。
