Choi In Hee, Park JeongYun, Son Haeng-Mi
Department of Genetic Counseling, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Department of Clinical Nursing, University of Ulsan, Seoul, Republic of Korea.
J Genet Couns. 2025 Apr;34(2):e1987. doi: 10.1002/jgc4.1987. Epub 2024 Oct 23.
In Korea, genetic counseling services began with the opening of genetic clinics in the early 1990s; in recent years, demand for these services has increased. However, genetic counseling is not an officially recognized healthcare service under the Korean national health insurance system; further, its certification is not recognized as a medical qualification. To clarify the role and significance of genetic counselors, this study examined their field experiences. To this end, we conducted focus group interviews with 11 certified genetic counselors, six advanced practice nurses, and four regular nurses. The interviews were transcribed verbatim and examined using thematic analysis. We found that even though Korea did not recognize their roles, the participants met their responsibilities and primary duties. In addition, they faced challenges during counseling due to a lack of formal education in genetics and genomics. Moreover, they encountered dilemmas related to the legal and ethical aspects of decision support for family testing or prenatal diagnosis due to the complexity of rare genetic disorders. However, they attempted to acquire the specialized knowledge needed to support patients with rare genetic disorders and their families, gradually developing practical experience and specialized knowledge. Therefore, it is necessary to develop manuals, establish systems, and improve working environments to provide high-quality and specialized genetic counseling. Additionally, there is a need for national support, such as establishing set wages for genetic counselors, developing a national qualification certification system, and securing dedicated personnel.
在韩国,遗传咨询服务始于20世纪90年代初遗传诊所的开设;近年来,对这些服务的需求有所增加。然而,在韩国国家健康保险体系下,遗传咨询并非官方认可的医疗保健服务;此外,其认证也不被视为医学资质。为了阐明遗传咨询师的角色和意义,本研究考察了他们的实际工作经验。为此,我们对11名获得认证的遗传咨询师、6名高级执业护士和4名普通护士进行了焦点小组访谈。访谈内容逐字记录,并采用主题分析法进行分析。我们发现,尽管韩国不认可他们的角色,但参与者履行了自己的职责和主要义务。此外,由于在遗传学和基因组学方面缺乏正规教育,他们在咨询过程中面临挑战。此外,由于罕见遗传病的复杂性,他们在为家庭检测或产前诊断提供决策支持的法律和伦理方面遇到了困境。然而,他们试图获取支持罕见遗传病患者及其家庭所需的专业知识,逐渐积累实践经验和专业知识。因此,有必要编写手册、建立体系并改善工作环境,以提供高质量的专业遗传咨询服务。此外,还需要国家的支持,比如为遗传咨询师设定固定工资、建立国家资质认证体系以及确保专业人员配备。