PDF(Pubmed)
Abstract：
Primary Immunodeficiency Disease (PID), also known as Inborn Errors of Immunity (IEI), comprises a group of rare genetic disorders that impair the body\'s immune responses. These conditions result from monogenic germline mutations that affect the function of genes governing the innate and adaptive immune system. Therefore, individuals with PID are more susceptible to infectious diseases, allergies, and autoimmune and autoinflammatory conditions. The prevalence of PID has been on the rise, with the number of classified diseases reaching 404, and 430 genetic defects reported to cause these conditions. However, in Malaysia, genetic testing for PID is currently limited and needs to be outsourced to overseas laboratories, posing financial challenges for families. Moreover, limited research has focused on the knowledge and awareness of genetic testing among parents of children with PID in Malaysia. This study aims to address this gap and provide valuable insights into the knowledge, awareness, and perception of genetic testing among this specific population.
This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals.
The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness.
In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals\' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.
This qualitative cross-sectional study utilised online open-ended, semi-structured focus group interviews to explore the perceptions and experiences of parents of children with Primary Immunodeficiency (PID). Participants were recruited through convenience sampling from the Malaysian Patient Organisation for Primary Immunodeficiencies (MyPOPI), a non-governmental organisation dedicated to providing support and raising awareness about PID. The study spanned from May 2023 to July 2023 and included participants from diverse regions of Malaysia who had undergone different diagnostic journeys in various hospitals.
The focus group discussions yielded 11 sub-themes that highlighted the experiences, understanding and challenges of the participants regarding genetic testing based on the semi-structured questions. These sub-themes were then grouped into four main themes that are awareness and understanding of genetic testing, the journey towards diagnosis and treatment, emotional impact and psychological factors, and the importance of medical experts in diagnosing and managing PID, as well as public perception and awareness.
In conclusion, this study highlights the diverse knowledge, awareness, and perception surrounding genetic testing for PID. Factors such as access to services, family history, and personal circumstances shape individuals\' understanding of genetic testing. The importance of healthcare professionals, along with the need for improved accessibility and targeted communication strategies, is underscored to enhance understanding and reduce stigma surrounding genetic testing for rare diseases like PID.
摘要：
■原发性免疫缺陷病（PID），也被称为先天性免疫错误(IEI)，包括一组罕见的遗传性疾病，损害身体的免疫反应。这些病症起因于影响支配先天和适应性免疫系统的基因的功能的单基因种系突变。因此,患有PID的人更容易感染传染病，过敏,以及自身免疫和自身炎症。PID的患病率一直在上升，分类疾病的数量达到404种，据报道导致这些疾病的遗传缺陷为430种。然而,在马来西亚,PID的基因检测目前有限，需要外包给海外实验室，给家庭带来财务挑战。此外，有限的研究集中在马来西亚PID儿童父母的基因检测知识和意识。这项研究旨在解决这一差距，并提供对知识的宝贵见解，意识,以及在这个特定人群中进行基因检测的感知。
■这项定性的横断面研究利用了在线开放式研究，半结构化焦点小组访谈，以探讨原发性免疫缺陷（PID）儿童的父母的看法和经验。参与者是通过马来西亚原发性免疫缺陷患者组织（MyPOPI）的便利抽样招募的，致力于提供支持和提高对PID的认识的非政府组织。这项研究从2023年5月到2023年7月，包括来自马来西亚不同地区的参与者，他们在不同的医院经历了不同的诊断旅程。
■焦点小组讨论产生了11个强调经验的子主题，参与者对基于半结构化问题的基因检测的理解和挑战。然后将这些子主题分为四个主要主题，即对基因检测的认识和理解，诊断和治疗的旅程，情感影响和心理因素，以及医学专家在诊断和管理PID方面的重要性，以及公众的认知和意识。
■总而言之，这项研究强调了不同的知识，意识,以及围绕PID基因检测的感知。获得服务等因素，家族史,和个人情况塑造了个人对基因检测的理解。医疗保健专业人员的重要性，随着改进的可访问性和有针对性的沟通策略的需要，强调要增进对诸如PID之类的罕见疾病的基因检测的理解并减少污名。
■这项定性的横断面研究利用了在线开放式研究，半结构化焦点小组访谈，以探讨原发性免疫缺陷（PID）儿童的父母的看法和经验。参与者是通过马来西亚原发性免疫缺陷患者组织（MyPOPI）的便利抽样招募的，致力于提供支持和提高对PID的认识的非政府组织。这项研究从2023年5月到2023年7月，包括来自马来西亚不同地区的参与者，他们在不同的医院经历了不同的诊断旅程。
■焦点小组讨论产生了11个强调经验的子主题，参与者对基于半结构化问题的基因检测的理解和挑战。然后将这些子主题分为四个主要主题，即对基因检测的认识和理解，诊断和治疗的旅程，情感影响和心理因素，以及医学专家在诊断和管理PID方面的重要性，以及公众的认知和意识。
■总而言之，这项研究强调了不同的知识，意识,以及围绕PID基因检测的感知。获得服务等因素，家族史,和个人情况塑造了个人对基因检测的理解。医疗保健专业人员的重要性，随着改进的可访问性和有针对性的沟通策略的需要，强调要增进对诸如PID之类的罕见疾病的基因检测的理解并减少污名。
