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.

What is known about this topic

In the early stages of genetic counseling in Korea, the available basic data are insufficient. This study explored the status of genetic counselors in Korea through focus group interviews and thematic analysis.

What this paper adds to the topic

The study findings show that Korea lacks proper protocols, national support, and a specialized education system for genetic counseling. Based on the difficulties and needs of genetic counselors identified in this study, it is necessary to develop protocols for genetic counseling and establish systems for genetic counselors.

1 INTRODUCTION

Due to the rapid development of genomic medicine, the demand for genetic counseling has recently increased, leading to an expansion of the role of genetic counselors in clinical practice. Worldwide, over 7000 genetic counselors are estimated to be working at hospitals, testing facilities, research institutes, and governments (Ormond et al., 2018). Thus, genetic counseling has been growing into a specialized profession. However, the integration of genetic counselors into a broader healthcare system varies across countries (Abacan et al., 2019).

In Korea, the introduction of prenatal diagnosis testing in the 1980s and maternal serum screening tests in the 1990s, along with advancements in genetic techniques, has led to an increase in the complexity and demand for genetic testing, resulting in a growing need for genetic counseling services (Kim, 2011). Genetic counseling services began with the establishment of genetic clinics in the 1990s, and the demand for genetic counselors emerged in the early 2000s (Kim, 2011). However, under the domestic medical policy system, it has been difficult for physicians to provide sufficient genetic counseling services to patients, especially during consultation hours at genetic clinics in tertiary hospitals and obstetrics/gynecology departments. Consequently, regular nurses, clinical pathologists, and researchers have begun to offer genetic counseling by assessing patients' medical and family history, constructing a family pedigree, and providing information on genetic and prenatal testing to patients and their families.

Following the enactment of the Bioethics and Safety Act in 2005, genetic counseling became an essential aspect of genetic testing. A nationwide survey by Chung et al. (2007) showed significant demand for genetic counselors with a master's degree or higher. Subsequently, the Korean Society of Medical Genetic and Genomics (KSMGG) has initiated a master's program in genetic counseling as well as a certification system for genetic counselors. This certification is granted to genetic counselors who pass a certification examination (comprising written and practical components) and submit their genetic counseling log books. The main qualification required to take the examination is a master's degree in genetic counseling obtained from a KSMGG-accredited program. The first certification examination was conducted in 2015, and as of September 2024, there have been 76 certified genetic counselors and four graduate education programs for genetic counseling (Korean Society of Medical Genetic and Genomics [KSMGG], 2024). Currently, efforts are being made to introduce a genetics team model into the Korean medical system in which genetic counselors collaborate with medical geneticists.

However, genetic counseling services have yet to be established within Korea's national healthcare insurance policy, and the genetic counselor certification is not officially recognized in medical law. Even after graduating from a master' program in genetic counseling and obtaining the certification, few individuals have been able to secure positions as genetic counselors. This lack of recognition poses a significant obstacle for genetic counselors in providing their services to patients with rare genetic disorders and their families. Although patients with rare genetic disorders and their families tend to prefer genetic counseling, approximately 80% have yet to avail these services (Choi et al., 2022; Kim, 2011). Thus, genetic counseling continues to be provided by regular physicians, advanced practice nurses, and regular nurses, in collaboration with physicians in genetics clinics. Moreover, there remains a lack of consensus in Korea regarding the definition of genetic counseling, the role of genetic professionals, and the scope of work for certified genetic counselors.

Due to the lack of clarity regarding the duties of genetic counselors compared with physicians, evaluating the performance of genetic counselors is challenging. Despite the increasing demand for genetic counselors in the Korean medical system in recent years, their duties vary across hospitals. In addition, depending on the hospital, genetic counseling services may be provided solely by physicians or by certified genetic counselors, advanced practice nurses, and regular nurses in collaboration with physicians. Therefore, foundational data are urgently needed to establish the role and scope of genetic counselors to provide specialized genetic counseling services to patients with rare genetic disorders and hereditary cancers and their families. This study comprehensively explores the work experiences of professionals providing genetic counseling in healthcare institutions in Korea. It aims to provide a comprehensive understanding of the role of genetic counselors, the foundational data needed for institutionalization, and strategic planning of genetic counseling services in Korea.

2 METHODS

2.1 Study design

This is a qualitative study that describes the roles played by genetic counselors based on their work experience in Korea.

2.2 Participants

We employed purposive sampling to identify potential interviewees providing genetic counseling services to patients affected by rare genetic disorders and their families in healthcare settings. To capture the diverse experiences of professionals engaged in genetic counseling activities, we recruited individuals working in the clinical fields of hereditary cancer, prenatal, pediatric, and adult genetics at tertiary general hospitals, hospitals, and institutions specializing in rare diseases. The researcher briefed 21 potential interviewees about the study's purpose and methodology (either face-to-face or by phone) and conducted a series of interviews after obtaining their written consent to participate.

All participants identified as female, with an average age of 40 years. Eight participants held master's degrees. Of the participants, 16 were employed in tertiary medical institutions, and 12 had 1–5 years of experience in genetic counseling, with 11 possessing certification for genetic counseling (Table 1).

TABLE 1. Participant characteristics.

Group	Participant	Age (years)	Marital (yes/No)	Religion (yes/No)	Education/major	Specific areas of expertise	Genetic counseling experience	Genetic counselor certification^a (yes/no)
1	1	51	Yes	Yes	MS/Genetic counseling PhD/Human genetics MS/Biology	Prenatal, hereditary cancer	3 years and 11 months	Yes
	2	47	Yes	Yes	MS/Genetic counseling PhD/Social welfare MS/Music therapy	Pediatric, adult	2 years and 8 months	Yes
	3	40	Yes	Yes	BS/Biotechnology	Prenatal	14 years	Yes
	4	40	Yes	Yes	BS/Biotechnology	Prenatal	13 years	Yes
	5	50	Yes	Yes	PhD/Clinical laboratory science MS/Human genetics	Prenatal	21 years	Yes
2	1	39	No	No	BSN/Nursing	Hereditary cancer	10 years and 6 months	Yes
	2	32	Yes	Yes	BSN/Nursing	Pediatric, adult, hereditary cancer	3 years and 11 months	Yes
	3	32	No	Yes	Graduate student/Genetic counseling	Pediatric, adult	2 years and 2 months	No
	4	28	No	Yes	Graduate student/Genetic counseling	Pediatric, adult	1 years	No
	5	48	No	Yes	PhD/Medical genetics MS/Animal development	Hereditary cancer	11 years and 11 months	Yes
3	1	43	No	No	MS/Nursing	Hereditary cancer	7 years and 5 months	No
	2	43	Yes	Yes	MS/Nursing	Hereditary cancer	1 years and 10 months	No
	3	30	No	No	BSN/Nursing	Adult	2 years and 2 months	No
	4	36	Yes	Yes	MS candidate/Nursing	Hereditary cancer	1 years and 8 months	No
	5	48	Yes	No	MS/Nursing	Pediatric	22 years	No
	6	49	Yes	Yes	MS/Genetic counseling	Pediatric, adult	10 years	Yes
4	1	31	No	No	MS/Genetic counseling	Pediatric, adult, prenatal, hereditary cancer	2 years and 11 months	Yes
	2	38	Yes	Yes	MS/Genetic counseling	Pediatric, adult, prenatal, hereditary cancer	3 years and 10 months	Yes
	3	43	Yes	No	BSN/Nursing	Pediatric, adult	2 years and 10 months	No
	4	33	Yes	No	MS/Nursing	Hereditary cancer	11 years	No
	5	38	Yes	No	MS/Nursing	Hereditary cancer	2 years and 2 months	No

^a Genetic counselor certified by the Korean Society of Medical Genetics and Genomics.

2.3 Data collection

Data were collected through focus group interviews (FGI). FGIs are used to collect the diverse experiences of a group of participants regarding a given topic through group interactions (Lee et al., 2017). Each focus group consisted of six to ten participants; for this approach, it is recommended to have three to five groups (Morgan, 1997). In this study, 21 participants took part in five groups. The data were collected from December 15, 2021, to January 19, 2022, during the COVID-19 pandemic. The interviews were conducted and recorded via Zoom to adhere to safety measures. The principal researcher moderated the natural flow of discussion during the FGIs and had no previous familiarity with the study participants. The other two researchers participated as observers of the participants' verbal and nonverbal reactions, capturing significant content from the interviews. The fourth FGI reached data saturation, and the interview time for each group was 1.5–2 h. The principal researcher verified and anonymized all transcripts, replacing the participants' names with pseudonyms.

Before the interviews, the researchers contacted the participants individually, explained the purpose and methods of the study, and obtained written informed consent to participate. Demographic information was also collected at this stage. The interview questions for the FGIs comprised opening, key, and closing questions (Morgan, 1997). The key questions focused on the participants' motivation for engaging in genetic counseling, the challenges they encountered while working, and the efforts they made to ensure the quality and professionalism of their work. Immediately following each FGI, the researchers conducted an initial analysis to identify and compare the participants' experiences through debriefing. The results of the initial analysis were reflected in the later data collection.

2.4 Data analysis

This study employed reflexive thematic analysis (TA), a flexible and accessible method proposed by Braun and Clarke (2006). Specifically, reflexive TA employs methodologies across a wide range of epistemologies, including essentialist and constructionist paradigms, to examine patterns across the qualitative data (Braun & Clarke, 2021). Reflexive TA procedures reflect the values of a qualitative paradigm, centering on subjectivity, organic and recursive coding processes, and the importance of deeply reflecting on the data (Braun & Clarke, 2019). Overall, the six phases of reflexive TA are as follows: familiarizing oneself with the data, generating codes, constructing themes, reviewing potential themes, defining and naming themes, and producing the report. In this study, data collection and analysis were conducted concurrently. For data analysis, trained research assistants transcribed the recorded interview data verbatim, and the researchers verified the accuracy of these transcripts by cross-checking with the audio recordings. To familiarize themselves with the data, the researchers read the transcripts repeatedly, identifying meaningful words, phrases, and sentences. Subsequently, the researchers assigned codes to these meaningful data. The researchers then compared the similarities and differences between the codes, confirmed the relationships among them, and derived similar codes into subthemes and themes as abstraction increased. Next, the researchers defined the properties of each theme and refined the specifics, incorporating relevant quotations to support them. Finally, the researchers drafted the description of the roles of Korean genetic counselors based on the participants' experiences.

2.5 The researchers' position and reflexivity

In qualitative research, it is important that researchers share their views, perspectives, biases, and experiences within the field to clarify factors that may affect the research (Wainstein et al., 2023). The researchers remained reflexive throughout, as they were aware of the potential impact of their role on the participants and the lens through which data were interpreted (Wainstein et al., 2023). As active members of a qualitative research society, the researchers are nursing professors (Son and Park) who have conducted a number of qualitative studies. The first author (Choi) has 18 years of clinical experience as a genetic counselor, is a professor of genetic counseling, and has been dedicated to advancing the genetic counseling profession through clinical supervision, education, curriculum and program development, and academic and research activities. Research introduced a domestic genetic counselor system, including establishing the role of genetic counselors and genetic counseling protocols and providing genetic counseling results to patients with rare genetic disorders. The authors benefited from their diverse positions, which allowed them to question any theoretical and professional interpretations. Considering the importance of qualitative research in establishing the role of genetic counselors in Korea, the researchers engaged in regular self-reflection throughout the collaborative research period to mitigate any biases resulting from preconceived notions of expertise influencing the research process and the interpretation of findings. They sought to maintain their neutrality by continually discussing methods and results to achieve consensus and reduce personal bias.

2.6 Ethical consideration

The study was approved by the Institutional Review Board at Asan Medical Center (IRB number: 2021-1499). The researchers informed the participants about the purpose of the study, the expected benefits and risks, protocols to protect personal information, and that the interviews would be recorded and obtained written consent from each participant. The researchers informed the participants that they could participate in or withdraw from the study at any time. Furthermore, the recordings of the interviews were transcribed, coded, and stored on a password-protected computer. The respondents were provided incentives for their participation.

2.7 Trustworthiness

The criteria proposed by Lincoln and Guba (1985) were applied to ensure the trustworthiness of the research. Participants were purposefully sampled, and their experiences were collected through in-depth FGIs until saturation was reached, establishing credibility. The recorded interviews were transcribed verbatim, with the accuracy of the transcriptions verified. Two participants were shown the results of the study and provided feedback about whether the findings described their experiences without distortion. To establish transferability, participants with diverse backgrounds in clinical practice were chosen to provide a rich description of their experiences. The six-step analysis process proposed by Braun and Clarke (2006) was strictly followed to ensure reliability. The researchers generated codes through repeated readings of the transcribed data; compared the similarities and differences among the codes, subthemes, and themes; and refined the definitions and names of the derived themes. To confirm the interpretations, the researchers actively listened to the participants' experiences during the interviews, bracketed their professional preconceptions, and engaged in self-reflection. The study was conducted according to the consolidated criteria for reporting qualitative research (Tong et al., 2007).

3 RESULTS

3.1 Theme 1: Tasks started without preparation

3.1.1 Tasks taken on by chance

The participants experienced confusion due to their unexpected and abrupt introduction to genetic counseling work. Some participants began work as advanced practice nurses in charge of genetic counseling while performing their own previous work at the request of physicians in the medical department. Meanwhile, some participants volunteered for genetic counseling duty out of curiosity upon the establishment of a rare disease center. As the participants lacked dedicated time and space for the genetic counseling, the work environment posed several challenges. Initially, their tasks were largely formal and superficial due to their lack of expertise in genetic counseling. Therefore, the participants were confused because they did not receive guidance on what they were doing, what they should be doing, or whether they were doing the right thing.

Based on the request of the professors in the Oncology Department, they wanted the clinical nurse specialist in oncology to provide counseling, so I suddenly ended up with this task. (FG3-P2)

3.1.2 Lack of clear delineation of roles

The participants were burdened with various additional tasks outside their role as genetic counselors due to a lack of clear delineation between professions. They had to take on tasks from other professions or handle miscellaneous administrative functions, resulting in conflict and stress. The difficulties in communications and blurred boundaries between their roles as genetic counselors and as physicians, clinical pathologists responsible for testing, research nurses, and social workers created a difficult situation. The participants suggested that their workload could be better managed through clear job delineation between professions.

Even the most basic tasks, such as checking whether a specimen had been received in the blood collection room or not, became exhausting when I had to deal with them. It drained a lot of energy and caused conflicts. (FG2-P5)

3.2 Theme 2: Understanding genetic disorders

3.2.1 Complex and difficult-to-understand genetic disorders

The participants recognized the importance of understanding the status of current knowledge about and the unique characteristics of genetic disorders for them to effectively fulfill their roles as genetic counselors. Due to the diversity of rare genetic disorders, the participants were unfamiliar with the disorders and found them difficult to comprehend, even as healthcare professionals. The participants reported that they had difficulty accessing accurate, up-to-date information on rare genetic disorders and struggled to identify reliable sources due to insufficient resources.

In fact, it is difficult to update knowledge while working, and even if you want to update it, in fact, there are many cases where you do not know where to update this information regularly…(FG3-P1)

3.2.2 Inevitable family involvement in genetic disorders

The participants indicated the importance of understanding the patients' family dynamics, as many genetic disorders require care and support for patients as well as their families. Genetic disorders may carry a social stigma, leading to sensitive, emotional reactions from patients and their families. Occasionally, the family members felt uncomfortable cooperating with the diagnosis and treatment. Notably, significant differences were seen in perspectives between couples regarding inherited disorders. In cases of maternal genetic disorders, X-linked conditions may not manifest in women, and women themselves may not be affected by mitochondrial diseases; however, mothers may experience guilt, believing that their child's condition is a result of their genetics. In addition, the financial implications of genetic disorders were also of significant concern for families. The high costs associated with genetic testing and treatment imposed a substantial financial burden, adding stress and strain among family members. The participants recognized the potential for family breakdown stemming from the challenges of raising children with complex health needs due to genetic disorders. One participant noted that these challenges placed significant strain on family relationships, leading to marital tension, disrupted family dynamics, and, in some cases, divorce.

It was difficult to gather information on both the patient's personal and family background in a limited time frame. Some situations involved difficult conversations. (FG3-P2)

3.2.3 Conditions requiring significant counseling

Genetic disorders often require lifelong management for both patients and their families. Consequently, the participants aimed to build rapport while considering the perspectives of both. They dedicated significant time to ensuring that patients and families understood their diagnosis and could make informed decisions. Additionally, they patiently supported them through the emotional process of coming to terms with their condition.

When the diagnosis is made soon after birth or when the child is very young, if the mother is struggling, I also empathize with her struggles. As I grow in this process, I can see that the mothers are also growing. Children grow rapidly, as time goes on, come to accept the genetic disorder…. (FG4-P2)

3.2.4 Legally and ethically sensitive conditions

The participants experienced ethical conflicts regarding guardian requests involving prenatal genetic testing or unnecessary genetic testing, confidentiality of results, and patient autonomy. They encountered ethical dilemmas when they were asked to keep the test results secret from certain family members despite their obligation to share them or when the family's opinions were prioritized over the patient's own views or best interests.

There were also instances where individuals requested information about hospitals where they could terminate a pregnancy if their second child had the same severe genetic disorder as their first child. This posed a sensitive and challenging situation. (FG3-P5)

The genetic conditions often have legal restrictions and fall into a medical blind spot, especially in the case of rare diseases. The participants found it difficult to perform their duties when counseling minors or members of vulnerable populations due to the lack of clear ethical guidelines. They emphasized the need to protect themselves from potential legal issues arising from their work, making them cautious about information management and record-keeping. The participants faced dilemmas regarding important patient information needed for treatment plans that could not be included in the patients' medical records and described the hospital as exercising extensive control over record management.

To avoid potential legal problems, we actually did not write the full term “BRCA gene” in medical records. Instead, we use a shorthand like “br.” (FG3-P4)

3.3 Theme 3: Efforts to be recognized as professionals

3.3.1 Revealing your presence from the shadows

Participants expressed that their roles as genetic counselors were not adequately recognized within the healthcare field. Despite the importance of their work, they felt that their contributions were not sufficiently acknowledged by colleagues or institutions. Specifically, the genetic counseling system in Korea is not recognized at the national level, meaning they are not officially referred to by the title of a genetic counselor. Furthermore, participants lamented that they could not document the counseling services they provided under their own names. This lack of recognition contributes to the social invisibility of genetic counselors, leading to frustration over their roles being overlooked. Nevertheless, they continue to maintain a strong sense of responsibility to establish themselves as professionals and diligently perform their assigned duties.

There are times when people don't even realize that what we do is genetic counseling. We are doing it, but we don't receive recognition… (FG1-P5)

3.3.2 Acquiring expertise in a variety of ways

The participants prioritized the acquisition of specialized knowledge and honing their skills. Those who did not complete the master's course in genetic counseling acquired genetics and counseling knowledge through self-study, utilizing various methods such as information retrieval, attending training courses or workshops in genetics-related conferences, reading journal reviews, and observing physicians' consultations. They emphasized the value of sharing experiences with their colleagues and senior professionals, as the practical knowledge gained in this manner was valuable.

If there are topics of interest in my field at conferences, I try to attend them. Also, I search for books that are specifically related to genetic counseling, especially cases related to counseling. So, I search for those books and purchase them. (FG2-P2)

The participants recognized the need for systematic education provided by specialized educational institutions and suggested pursuing graduate studies as an alternative. Graduate school not only provided the participants' the specialized knowledge they sought but was also a way to communicate openly with a community that had the same purpose.

Through the courses, I thought, “I can understand this part more” and “I can talk more about this part to the patient,” and in my case, I was really satisfied with the graduate school course. (FG3-P6)

3.4 Theme 4: Institutional support for entering into a specialized field

3.4.1 Requiring a unique position within the organization

The participants noted the difficulty in establishing themselves in the field of genetic counseling without institutional support. They emphasized the importance of resolving conflicts, clarifying job responsibilities through the division of tasks, and recruiting dedicated personnel with specialized expertise. They also mentioned the importance of a medical fee structure for genetic counseling services if dedicated personnel are hired for this purpose, as hospital management must dedicate human resources to work that generates income. The participants highlighted the need to introduce a medical records system for genetic counseling that would not only facilitate fee calculations but also enhance communication between various professions and provide a means of observing genetic counseling work.

I think it is necessary to secure professional manpower. If someone is in charge all the time, it will incur some cost, so if the fee is measured for the patient, that much manpower will be allocated and it would be good to systematize, but I think that there is no such thing at all. (FGI-P5)

3.4.2 Need to manage work quality

The participants emphasized the need for standardized practical guidelines to manage the quality of their work as genetic counselors. They expressed a desire for a group of experts or a trusted institution to develop clear scopes of practice and professional guidelines. These guidelines would serve as reliable resources, helping genetic counselors better understand their roles and responsibilities and empowering them to make informed decisions. Furthermore, such guidelines would help establish standards for their duties and ensure consistent quality in the services provided. The participants also highlighted the importance of ongoing education programs, such as refresher courses and workshops, to enhance the quality of genetic counseling. Currently, there are insufficient standardized quality management criteria for genetic counselors in Korea.

Having clear guidelines to follow would instill confidence in my work, knowing that I am doing it correctly. (FG4-P4)

4 DISCUSSION

This study provides a comprehensive and in-depth exploration of the field experience of genetic counselors, advanced practice nurses, and regular nurses providing genetic counseling services. We also provide the basic data necessary for institutionalizing the directions and strategies for genetic counselors in Korea. Four main themes emerged from the study: “tasks started without preparation,” “understanding of genetic disorders,” “efforts to be recognized as professionals,” and “institutional support for entering into specialized fields.”

In the United States, the need for genetic counselors arose as genetic technology developed and genetic testing, including prenatal testing, became possible. In response, a master's program in genetic counseling was established in 1969 (Veach et al., 2007). The recognition of the necessity for genetic counselors in Korea is attributed to shifts in the medical landscape, marked by the opening of genetic clinics in the 1990s and the subsequent surge in demand for genetic counseling by patients with rare genetic disorders and their families as genetic testing became more prevalent. Before the KSMGG initiated the genetic counselor certification system in 2015, clinical pathologists responsible for testing, advanced practice nurses, and regular nurses provided genetic counseling to patients and families at the request of physicians. Likewise, the participants in this study also began providing genetic counseling at the request of physicians. The study revealed that participants who started genetic counseling work without appropriate training before the development of the domestic genetic counselor certification system experienced unexpected challenges and difficulties. However, as of 2024, Korea has still not officially recognized the domestic genetic counselor certification system. Genetic counseling services are currently provided not only by genetic counselors but also by advanced practice nurses and regular nurses; thus, there is an urgent need for institutional support to recognize certified national-level genetic counselors; it is also necessary to develop protocols to provide professional, standardized genetic counseling services.

The participants' lack of genetics knowledge as identified in this study also poses challenges in providing genetic counseling. Genetic counseling is challenging due to the complexity of the field and interpreting genetic information (Bernhardt et al., 1987; Calzone et al., 2018; McPherson et al., 2008). While the United States, Canada, and Europe have created certifications for genetic counselors or genetic nurses who can play an active role, in other countries, nurses are responsible for genetic counseling without regard for their professional level or academic expertise (Kirk et al., 2014). Nurses' knowledge and competence play a crucial role in connecting patients to genetic counseling services. As previously reported, most nurses participating in this study claimed to lack a basic foundation in genetics and genomics (Godino et al., 2013; Kirk et al., 2014; Puddester et al., 2022). At present, nursing undergraduate curricula only offer basic genetics content, limiting nurses' knowledge and practice of genetic counseling (Calzone et al., 2018; Choi et al., 2010; Hong et al., 2003; Puddester et al., 2022). By contrast, the United States designated genetic nursing as a specialized field in 1997, proposing that nurses train at the master's or doctoral level in this area (Williamson & LeBlanc, 2008). To offer professional genetic counseling services in Korea, it will be crucial to train personnel at the master's level in genetic counseling or genetic nursing programs.

Unlike other clinical departments, clinical genetics services involve patients and their family members in the counseling process because genetic information can affect the entire family's future. Furthermore, advances in genetic testing technology have greatly improved the diagnosis process and speed of genetic disorders, and new genetic variants are constantly being identified (Horton & Lucassen, 2019; Seo et al., 2020). The participants experienced a variety of difficulties, such as explaining variants of uncertain significance, not knowing whether to provide information on secondary findings, respect for patient confidentiality, including whether to inform family members about genetic information, and the legal and ethical aspects of prenatal diagnostic tests. Genetic counselors effectively communicate medical and genetic information to patients and their families, assess family risk of recurrence, and support decision-making about options involving family testing and prenatal diagnostics (Biesecker, 2001; Davey et al., 2005; Veach et al., 2007). To fulfill this role, it is important to provide continuing educational opportunities to counselors to enhance their knowledge and skills.

In addition, genetic counselors face challenges due to the absence of regulations and national recognition of their profession. The participants took the initiative to enhance their expertise by acquiring essential knowledge, attending conferences, undergoing training programs, and contributing to improving the quality of their practice. To further develop their knowledge and skills, they continued to participate in conferences, read relevant medical journals, pursue master's degrees, and follow other educational opportunities. Many countries have well-established systems in which qualified genetic counselors have independently applied their expertise over many years (Biesecker, 2001; National Society of Genetic Counselors [NSGC], 2020; Veach et al., 2007). In contrast, the genetic counselors in Korea face disadvantageous working conditions. Nevertheless, the participants performed tasks consistent with the scope of practice observed in major countries (Biesecker, 2001; NSGC, 2020; Veach et al., 2007). To provide professional genetic counseling services, it is essential to establish a curriculum featuring strict and consistent standards, including obtaining a master's degree in genetic counseling and a license to practice (Abacan et al., 2019; McPherson et al., 2008). Although the KSMGG is currently crafting a graduate school program and a genetic counselor certification system, there are only four master's courses and 76 certified genetic counselors, which are far too few to meet the demand (KSMGG, 2024). Meeting the growing demand requires expanding the number of master's courses to train genetic counselors. Additionally, the qualifications for genetic counselors should be updated, and appropriate work regulations should be put in place. According to a report published in the United Kingdom, three medical geneticists and 6–12 genetic counselors are needed per 1 million people (Royal College of Physicians, 2013). A concerted effort is thus needed to address human resource shortages in Korea, but Korea's health insurance system currently does not recognize genetic counseling as a healthcare service. A study showed that 79.8% of domestic patients with rare genetic disorders and their families have not received genetic counseling (Choi et al., 2022). In conclusion, a legal foundation for supporting genetic counseling services should be established. Supplementing and maintaining this foundation will require developing tools to measure the work performance and outcomes of genetic counseling. This would support employing genetic counselors and facilitating the development of a genetic counseling service model with a genetics team.

The researchers acknowledge some limitations in the study. First, the study was conducted among certified genetic counselors, advanced practice nurses, and regular nurses. The experiences of genetic counselors vary based on their certification status, job type, and work institution, suggesting a need for separate investigations to understand the specific dynamics and challenges across different settings. Second, the sample of genetic counselors included in this study may not represent the entire population of genetic counselors, as the participants were purposefully selected from among those most likely to participate in focus groups within medical institutions. Undoubtedly, a more in-depth analysis would have been conducted had it included genetic counselors working in nonmedical institutions. Nonetheless, this study is important as the first to provide in-depth insights into the work and perceptions of genetic counselors in Korea, encompassing genetic counselors, advanced practice nurses, and regular nurses engaged in genetic counseling within domestic medical institutions.

5 CONCLUSIONS

This study explored the experiences of those engaged in genetic counseling within medical institutions in Korea, confirming the counselors' efforts to enhance their quality, despite the lack of official recognition by the government. The analysis highlighted the crucial need to systematically educate and train experts with the knowledge and skills to provide genetic counseling services to patients at risk of genetic conditions. In this context, the absence of official acknowledgment in medical law has led to identity issues and conflicts regarding the roles of genetic counselors. Ultimately, this study underscores the critical need for official recognition and national support to fully integrate genetic counselors into Korea's healthcare system. Such integration would ensure focused efforts to provide all patients with equitable and effective genetic counseling services.

AUTHOR CONTRIBUTIONS

All the authors contributed to the study conception and design. Materials preparation, data collection, and analysis were performed by In Hee Choi, JeongYun Park, and Haeng-Mi Son. The first draft of the manuscript was written by In Hee Choi, and all authors commented on the successive versions of the manuscript. All the authors gave final approval of this version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

ACKNOWLEDGMENTS

The researchers deeply appreciate the time and contributions that the participating certified genetic counselors, advanced practice nurses, and regular nurses provided in our study.

FUNDING INFORMATION

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

CONFLICT OF INTEREST STATEMENT

In Hee Choi, JeongYun Park, and Haeng-Mi Son declare that they have no conflicts of interest.

ETHICS STATEMENT

Human studies and informed consent: Approval to conduct this research on human subjects was obtained from the Institutional Review Board at Asan Medical Center (IRB No. 2021-1499). All procedures were conducted in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants before they were included in the study.

Animal studies: No animal studies were conducted by the authors of this study.

Open Research

DATA AVAILABILITY STATEMENT

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Volume34, Issue2

April 2025

e1987

A qualitative study on the field experience of genetic counseling in Korea

Abstract