Abstract：
Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine. Therefore, it is important for medical geneticists and genetic counselors to collaboratively provide genetic counseling services. This study aimed to evaluate the perception and satisfaction of patients with rare genetic diseases and their families regarding genetic counseling services provided by a genetics team at the medical genetics center of a tertiary general hospital for rare genetic diseases. From April to November 2021, a survey was conducted with 203 individuals, including 111 and 92 individuals in the patient and family groups, respectively. Overall, 164 individuals (80.8%) responded that they were aware of genetic counseling services, and 135 individuals (66.5%) responded that they were aware of the role of genetic counselors. Patients and their families wanted to receive information about the following from genetic counseling: clinical manifestation and prognosis of the diagnosed disease (78.8%), treatment and management of the disease (60.6%), risk of recurrence within the family (55.7%), treatment options and alternatives for family and prenatal testing, and various support services. The score of satisfaction with genetic counseling services provided by the genetics team was 8.19 ± 1.68 out of 10. Patients with rare genetic diseases and their families were satisfied with genetic counseling services regarding their diseases, test results, and treatment options. Moreover, the patients could receive psychosocial support and referrals to other medical service providers and support services. As a genetic team approach, collaboration between medical geneticists and certified genetic counselors would be useful in providing information and in diagnosing, treating, and managing patients.
摘要：
自1990年代以来,韩国已经建立了基因诊所，能够提供临床遗传学服务。然而,遗传咨询服务在医疗系统中没有广泛使用。相比之下,最近,由于基因组医学的快速发展，对遗传咨询的需求增加了。因此,医学遗传学家和遗传咨询师合作提供遗传咨询服务非常重要。这项研究旨在评估罕见遗传病患者及其家人对三级综合医院罕见遗传病医学遗传学中心遗传团队提供的遗传咨询服务的看法和满意度。2021年4月至11月，对203人进行了一项调查，包括患者和家庭组中的111和92个人，分别。总的来说,164人（80.8%）回答他们知道遗传咨询服务，135名个体(66.5%)回答他们知道遗传咨询师的作用.患者及其家人希望从遗传咨询中获得以下信息：已诊断疾病的临床表现和预后（78.8％），该疾病的治疗和管理（60.6％），家庭内复发的风险（55.7％），家庭和产前检查的治疗方案和替代方案，和各种支持服务。对遗传团队提供的遗传咨询服务的满意度得分为8.19±1.68分。罕见遗传病患者及其家属对有关疾病的遗传咨询服务感到满意,测试结果,和治疗选择。此外，患者可以接受社会心理支持，并转介给其他医疗服务提供者和支持服务。作为遗传团队的方法，医学遗传学家和经过认证的遗传咨询师之间的合作将有助于提供信息和诊断，治疗,管理病人。
