Exploring factors that influence patient satisfaction in genetic counseling: a post-hoc qualitative analysis of perceived empathy by patients with hereditary breast and ovarian cancer in Japan

Abstract

Background

Patient satisfaction is essential for the effective delivery and expansion of genetic counseling services in Japan, yet patients’ perspectives remain underexplored. This study examined factors shaping satisfaction with cancer genetic counseling using expectation-disconfirmation theory (EDT), which conceptualizes satisfaction as the interaction between prior expectations and perceived performance, offers a useful framework for understanding these experiences.

Methods

Semi-structured interviews were conducted with thirteen participants (mean age 48 ± 10 years) diagnosed with hereditary breast and ovarian cancer (HBOC) or with family members affected by HBOC. Data analysis involved inductive thematic analysis followed by conceptual and interpretative analysis within the EDT framework.

Results

Two themes emerged: (i) expectations of genetic counseling and its perceived usefulness, and (ii) trust in medical staff cultivated through the follow-up process. When counseling met or exceeded expectations, participants recalled empathic care positively, whereas unmet expectations diminished recall of empathic elements. Trust built through sustained interactions contributed to satisfaction regardless of whether expectations were fulfilled. Participants valued repeated, informal encounters —such as conversations during blood draws or frequent check-ins—which conveyed compassion beyond the formal counseling session.

Conclusion

Satisfaction with genetic counseling is shaped by expectation confirmation or disconfirmation and by trust established through long-term relationships with healthcare providers. While EDT explains part of this process, a complementary framework emphasizing interpersonal care and implicit hospitality may better account for satisfaction in cases of negative disconfirmation. These findings highlight the importance of clear communication regarding the scope of genetic counseling and suggest that integrating opportunities for ongoing patient-provider interactions may enhance genetic service delivery.

Introduction

Patient satisfaction is widely regarded as a core component of healthcare quality assessment (Sitzia and Wood 1997), enabling the identification of problematic areas and guiding targeted improvements (Locker and Dunt 1978). Evaluating satisfaction provides crucial insights into patients’ healthcare experiences and is essential for fostering treatment adherence and engagement (Sitzia and Wood 1997).

In Japan and globally, the clinical implementation of genetic medicine has advanced substantially (Murai and Ueno 2021; Hayashi et al. 2022). Within the Japanese healthcare system, genetic counselors and clinical geneticists support variant interpretation and screening for putative germline pathogenic variants (PGPVs) identified through tumor profiling at individual institutions. Patients harboring PGPVs and their at-risk relatives are subsequently referred for genetic counseling. Consequently, cancer genetic counseling is rapidly expanding with the implementation of comprehensive genomic profiling, which analyzes cancer‑related genes using tumor or blood samples (Hayashi et al. 2022).

Despite this expansion, genetic counseling services in Japan remain under-resourced and understaffed. Diagnostic services for hereditary cancer are concentrated in advanced medical centers and remain accessible to only a limited subset of patients. Although universal health insurance covers parts of hereditary cancer testing, cascade testing is typically self‑funded and available only at select institutions, contributing to disparities in service access. Furthermore, although genetic counselor training programs are expanding, nationwide employment opportunities for certified genetic counselors (CGCs) remain limited. One contributing factor is that CGCs are not nationally licensed healthcare professionals in Japan and therefore cannot directly provide services eligible for reimbursement under the country’s universal health insurance system. The successful nationwide implementation of genetic medicine requires not only expanding access to genetic services but also ensuring positive patient experiences with genetic counseling. However, patient perspectives on genetic counseling have received limited attention in Japan. This may be partly attributable to the relatively limited use of patient-reported outcome measures (PROMs) in clinical research, particularly measures designed to assess outcomes specific to genetic counseling. One factor underlying this limitation is the need to translate, culturally adapt, and validate PROMs developed internationally before they can be used in the Japanese context. Mochiki et al. (2023) reported high levels of patient satisfaction following an initial genetic counseling session. Kimura et al. (2026) found low levels of distress before and after genetic testing and suggested that the comprehensive genetic information provided through genetic counseling may have contributed to these favorable outcomes. International studies have likewise demonstrated high satisfaction with genetic counseling and its positive effects on outcomes such as self-efficacy (Shiloh et al. 1990; Davey et al. 2005). However, little is known about the specific factors that contribute to satisfaction and dissatisfaction and how these elements interact.

In broader healthcare research, patient attitudes and perceptions prior to receiving care are known to influence satisfaction (Linder-Pelz 1982). Newsome and Wright (2000) examined whether patient evaluation could be explained by the disconfirmation of expectations and attribution and concluded that some antecedent factors should be considered to understand patient satisfaction. Another study reported that other predictors of satisfaction reflected aspects of patient–doctor communication, including receiving an explanation of the cause of the symptom, its likely duration, and absence of unmet expectations (Jackson et al. 2001). Consistent with these findings, effective patient–provider communication has been shown to positively affect patient satisfaction (Street et al. 2009; Pollak et al. 2011). In addition, practitioners’ empathy has been consistently associated with greater patient satisfaction (Leiblum et al. 2008; Hojat et al. 2010; Little et al. 2015; Lee et al. 2021; Londhe et al. 2021; Pereira et al. 2016; Pace et al. 2017).Williams et al. (2017) reported on the long-term effects of maintaining relationships between genetic counselors and patients on patient satisfaction, suggesting that expectations and interpersonal interactions introduce complexity into predictive models. Furthermore, studies in genetic counseling have reported associations between the therapeutic alliance and psychological outcomes (Murray et al. 2022; Lewis et al. 2026). Taken together, these findings suggest that the therapeutic alliance established through patient-provider communication may also play an important role in determining patient satisfaction.

One of the most traditional themes in research on service quality improvement is the concept of customer satisfaction. Most studies on customer acceptance of services or quality management have revealed the importance of considering a theoretical foundation suited to customer perspectives (Jain et al. 2017; Chang and Horng 2010). Expectation–disconfirmation theory (EDT) is a widely applied framework in service quality research, explaining satisfaction as the relationship between pre‑service expectations and post‑service perceived performance (Oliver 1977, 1980). EDT has been applied to diverse contexts, including human services, online platforms, and public sector services (Ballart et al. 2024; Hien et al. 2024; Wang and Zhou 2022), as well as in healthcare, such as telemedicine (Serrano et al. 2018).

However, no studies have applied EDT to genetic counseling. Given that patients’ perceptions of healthcare vary across contexts (Dwyer and Cummings 2001), and satisfaction differs by setting (Wensing and Elwyn 2003), it is necessary to examine the applicability of EDT within genetic counseling.　Therefore, the present study aims to explore prior expectations, satisfaction and dissatisfaction, and perceptions of counseling performance among Japanese patients with hereditary breast and ovarian cancer, using expectation–disconfirmation theory as a guiding interpretative framework (Fig. 1).

Fig. 1.

Theoretical framework and research model. Schiebler T, Lee N, and Brodbeck FC (2025) Expectancy-disconfirmation and consumer satisfaction: A meta-analysis. J Acad Mark Sci 1–22

Method

Participants

A total of 13 participants (mean age 48 ± 10 years) were recruited through patient organizations in Japan (Table 1). The sample consisted of 12 women and 1 man who had either been diagnosed with hereditary breast and ovarian cancer (HBOC) or had family members diagnosed with HBOC.

Table 1.

Expectations, experiences, and usefulness of genetic counseling/genetic services among participants

Participants	Clinical status	Rerring to GS	Expectation	Details of expectation	Personel of GC session	Contact without GC session	Empathic care (staff)	Usefulness of GC	Details of usefulness	Number of GC
A	BrCa	On their own	Yes	Decision-making regarding surgery choices	CG, CGC		No	No	–	2
B	PrCa	On their own/From a primary care doctor	Yes	Targeted therapy, some new information	CG, CGC	Yes (CG)	Yes (CG) /No (CGC)	No	–	4
C-1	BrCa	On their own	Yes	Psychosocial support	CG		Yes	Yes	Psychosocial support	2
C-2	BrCa	On their own	Yes	Decision-making regarding RRSO	CG		Yes	Yes	Support for decision-making	1
D	BrCa	On their own	Yes	Genetic counseling for relatives	CG, CGC		Yes	Yes	Appropriate genetic counseling for relatives	2
E	BrCa	On their own	Yes	Genetic testing	CG, CGC	Yes (CGC)	Yes	Yes	Genetic testing	≥ 5
F	BrCa	On their own	Yes	Genetic testing, genetic counseling for relatives	CG, CGC	Yes (CGC)	Yes	Yes	Support for decision-making, provide genetic counseling for relatives	2
G-2	BrCa	On their own	Yes	Psychosocial support	CG, CGC		Yes	Yes	Psychosocial support	2
H	BrCa	On their own	Yes	Information regarding cancer risk	CG, CGC		Yes	Yes	Reliable information	1
I	BrCa	From a primary care doctor	Yes	Some new information	CG, CGC		Yes	Yes	Reliable information, personalized information	2
G-1	BrCa	From a primary care doctor	No	–	CG, CGC		No	No	–	3
J	Healthy	From a primary care doctor	No	–	CG, CGC	Yes (CGC)	Yes (CGC) /No (CG)	Yes	Psychological safety	2
K	BrCa	From a primary care doctor	No	–	CG, CGC	Yes (CGC)	Yes	Yes	Updating information	≥ 5
L	BrCa	From a primary care doctor	No	–	CG, CGC	Yes (CGC)	Yes	Yes	Psychosocial support, updating information	4
M	BrCa	From a primary care doctor	No	–	CG, CGC		Yes	No	–	2

BrCa: Breast cancer; PrCa: Prostate cancer; GS: Genetic services, GC: Genetic counseling; CGC: Certified genetic counselor; CG: Clinical geneticist; RRSO: Risk-reducing Salpingo-oophorectomy

Identification numbers denote chronological order anddistinguish between facilities for participants receiving care at multiple institutions.

Procedure

Participant recruitment and interview procedures have been reported by Tomozawa et al. (2024). Individuals who had undergone genetic counseling within the previous two years were recruited from two patient advocacy organizations. The first author conducted semi‑structured interviews, asking participants to describe their experiences of empathic care during genetic counseling, as well as the contextual and clinical circumstances surrounding their counseling session. These accounts also included information concerning participants’ relationships with their genetic counseling providers, including whether the session was an initial consultation, their interpersonal impressions of the provider, and specific episodes of care experienced during the counseling process.

Interviews were conducted online via Zoom (Zoom Video Communications, Inc., San Jose, CA, USA) between June 2022 and January 2023 and were recorded using the platform’s built‑in recording function. Each interview lasted approximately 30–90 min. Written informed consent was obtained from all participants.

Analysis

In the original interviews conducted by Tomozawa et al. (2024), participants were asked to describe their experiences and perceptions before and after genetic counseling in order to explore how they received empathic care. Consequently, all participants’ narratives encompassed expectations preceding genetic counseling, their needs, healthcare provider performance, and overall satisfaction or dissatisfaction as well as their perceptions of empathic care. The initial analysis focused specifically on patients’ experiences of being empathized with (Tomozawa et al. 2024). For the present study, to clarify the factors associated with satisfaction in genetic counseling, we conducted a post‑hoc analysis that included narrative data related to patient expectations, perceived performance, and satisfaction—elements that had not been systematically examined in the prior analysis.

Given the objective of examining the applicability of expectation–disconfirmation theory (EDT) to genetic counseling, we adopted a subjective, interpretivist approach that emphasized meaning‑making. This approach allowed us to explore how satisfaction was shaped by participants’ prior expectations and the emotional support experienced during and after counseling.

A dual analytical strategy was used. First, inductive thematic analysis was conducted (Boyatzis 1998). This was followed by conceptual and interpretative analysis (Denzin 1989; Nicolson and Anderson 2003) situated within the EDT framework (Oliver 1977, 1980). EDT comprises two key components—expectations and perceived performance—and defines the difference between the two as expectation disconfirmation (Oliver 1980; Spreng and Page 2003; Bhattacherjee and Premkumar 2004). Disconfirmation may be positive (performance exceeds expectations) or negative (performance falls short of expectations). Positive disconfirmation typically results in satisfaction, whereas negative disconfirmation leads to dissatisfaction (Yi 1990). EDT has been widely applied across service‑related fields to examine drivers of expectations and satisfaction.

During analysis, we focused on themes aligned with EDT, including patient expectations, positive and negative affective responses, and satisfaction or dissatisfaction. Two researchers (CT and MW) systematically and iteratively reviewed and coded all transcripts, refining themes through repeated comparison. Themes were finalized by examining whether cases conformed to the EDT model—specifically, whether positive disconfirmation was associated with satisfaction and negative disconfirmation with dissatisfaction—and identifying any deviations from the framework.

Author positionality

All authors are Japanese nationals working in genetic counseling services in full‑time or part‑time capacities. CT and MW are certified genetic counselors, and HM and MH are clinical geneticists. CT and MH specialize in cancer genetic counseling, and HM also holds a leadership role in a graduate‑level genetic counseling program.

We acknowledge that our professional backgrounds may influence our interpretations and recognize the inherent differences between healthcare provider and patient perspectives. We also acknowledge that interactions between healthcare professionals and clients are central to patient‑centered care. We believe that clarifying aspects of patient experience that may not surface in routine clinical encounters can contribute to improving the quality of genetic healthcare services.

Results

Participant subgroups, based on expectations, perceived empathic care, and the usefulness of genetic counseling, are shown in Table 1. Interpretative analysis identified factors that affected participants’ recall of the presence or absence of empathic care during genetic counseling. These factors were categorized into two themes (Table 2).

Table 2.

Codes, examples, and themes

Codes	Examples	Initial themes	Final themes
Context of GC	First, my doctor for breast surgery told me to go to a genetic counselor. (Participant M) I asked my doctor if I could undergo genetic testing. I wanted to undergo genetic testing so much. (Participant A)	Expectations of GC	1: Expectations of GC and its perceived usefulness
Feelings and thoughts before GC	I expected target therapy. I saw it as my next challenge. (Participant B) I had already received my report of genetic testing, and I did not have any concerns before GC. (Participant I)	Expectations of GC
Concerns about family members	The big issue was about my daughter and son. (Participant D)	Expectations of GC
Preparing for GC	Luckily, I could watch a lecture online about HBOC before the consultation. I could read materials, too. (Participant L)	Expectations of GC
Knowledge and images of GC	“Heredity” is a heavy issue, isn’t it? It has an influence on people around you. (Participant D)	Expectations of GC
Desire and expectation	Before the counseling, I expected that they might provide something I did not know. (Participant B) I wanted to be helped. I might have wanted a word that helped me. (Participant G-1)	Expectations of GC
Familial situation	My son felt guilty or anxious about the situation that he might inherit HBOC and it might run in his children. (Participant L) I had been worried about genetic testing for a few years. My daughter reached marriageable age, and I decided to call for a genetic counselor. (Participant F)	Expectations of GC
Contents of service	The doctor taught me what HBOC is and what is a genetic condition. He said, “It might be a little bit difficult.” It was like a biology class. (Participant E) The doctor said, “It is your choice whether or not you undergo RRSO. However, ovarian cancer is difficult to detect. Now you know your cancer risk, so risk reduction may be good for your future.” (Participant C-1)	Perception of performance
Perception of a staff member’s intention	I felt that they would reschedule according to their convenience. (Participant A)	Perception of performance
Impression of information provision	I was feeling disappointed. I felt that the counselor did not have enough knowledge. (Participant B) I was very satisfied that they objectively gave my son and daughter exact information, in other words, cancer risk and the pros and cons of genetic testing. (Participant D)	Perception of performance
Feelings and thoughts after GC	She said, “I totally agree with you.” Her words gave me confidence. (Participant F) The doctor’s words did not comfort me. I felt uncomfortable with that counseling. (Participant G-1)	Perception of performance
Effect of GC	After that counseling, I felt seriously that I had to preserve my health. (Participant L) I began thinking that it is also important to wait at that time. (Participant G-2)	Meaning of GC
Usefulness	I could get new information about relatives, such as the fact that my relatives could undergo family testing if I received a positive result. (Participant A)	Meaning of GC
Follow-up process	I met the doctor many times. There were 4 to 5 times. He visited my hospital room during my hospitalization. (Participant B)	Follow-up	2: Trust in medical staff cultivated through the follow-up process
Feelings and thoughts after GC in follow-up	I can feel safe because the staff understands everything about me. (Participant L)	Trust of staff in follow-up
Usefulness of follow-up	I want to update my knowledge about HBOC because my disease is for a lifetime. (Participant E)	Meaning of GC in follow-up

GC: Genetic counseling; HBOC: Hereditary breast and ovarian cancer; RRSO: Risk-reducing Salpingo-oophorectomy

Theme 1. Expectations of genetic counseling and its perceived usefulness

Participants frequently described their expectations of genetic counseling or testing prior to their consultations. Some participants expressed concerns about their own or their relatives’ genetic conditions or how to communicate genetic information to family members.

Participant F: If my daughter’s boyfriend or his family learns of my genetic condition, her marriage may be broken. This was a significant concern. Consequently, I hesitated to undergo genetic testing for a long time. A few years later, when I heard that my younger sister had received a breast cancer diagnosis and learned about her experience in genetic counseling, I wanted to contact a genetic counselor as soon as possible.

Participant C-1: I deeply regretted having undergone the test without knowing that it was a significant matter that would affect my family. I didn’t know how to inform my brother about the genetic test results, and I felt I couldn’t return home without receiving genetic counseling.

Some participants attended genetic counseling as instructed by their attending physician despite being uncertain about what would be discussed during the session.

Participant M: I wasn’t sure what to expect, so I figured I’d just listen to what they had to say.

Participants who reported having “no specific expectations” regarding genetic counseling were frequently observed among those who underwent genetic testing covered by the national health insurance system. These participants often indicated that they had attended genetic counseling following a referral or recommendation from their treating physician as part of the routine cancer care pathway, and had received little prior information about the content or purpose of genetic counseling.

When participants received appropriate services from genetic counselors or physicians and perceived them as useful, they recalled their experiences of empathic care positively.

Participant E: Genetic counseling and testing resolved something that had been troubling me for a long time.

Participant C-1: I could not return home without genetic counseling on the day I received my genetic testing results. I made a reservation just before the genetic counseling session, but the staff allocated sufficient time, listened to me attentively, and never pressured me to speak. I truly appreciate it.

Conversely, if services did not meet participants’ expectations, they were perceived as unhelpful and elicited no recall of empathic care.

Participant A: The genetic counselor said, “You do not need to hurry; you should consider genetic testing carefully.” However, I sensed a disconnect between my perspective and hers at that moment. In retrospect, I wish she had offered concrete suggestions regarding my concerns.

Participant B: I expected target therapy. I viewed it as my next challenge.

Participant B: That genetic counseling session was not counseling. I expected to gain knowledge and learn substantially. I felt that the genetic counselor possessed less knowledge of genetic medicine than I did, which seemed inadequate.

Theme 2. Trust in medical staff cultivated through the follow-up process

Some participants reported experiencing empathic care despite holding no prior expectations, attributing this to sustained positive relationships with staff. These participants perceived genetic counseling as highly significant for their personal circumstances and expressed trust in genetics service staff, indicating willingness to seek consultation at any time. One participant exemplified this trajectory, initially lacking clearly defined expectations regarding genetic counseling but subsequently expressing satisfaction with the care provided by their genetic counselor.

Participant K: (Regarding prior expectations) Well, I didn’t really understand how genetic counseling could be helpful or how it might be necessary for me personally.

Participant K: (Regarding satisfaction) When I went for a blood draw, he would be waiting for me, and we would chat while seated in a small open space in the waiting area or even in the hallway. He consistently told me, “Feel free to say anything anytime.” I’m genuinely glad he’s available.

Another participant stated that genetic counseling itself had not met their expectations and needs; however, they appreciated the fact that the physician or the genetic counselor made repeated attempts to contact and speak with them, and described their compassion as follows:

Participant B: I attended several genetic counseling sessions. I only met the genetic counselor once, but I met my physician multiple times. He visited me in my patient room as well. He empathized with me and expressed confidence that positive outcomes would occur. I perceived his compassion through his actions.

Another participant noted that while the formal genetic counseling session felt somewhat tense, the genetic counselor created a more relaxed atmosphere during a blood draw by engaging in friendly, informal conversation.

Participant J: After the counseling session, the genetic counselor remained with me until it was time for the blood draw. During that time, I was able to share how I came to visit the hospital and engage in casual conversation, which helped me feel more relaxed. The counseling itself maintained a rather serious tone, so I felt the counselor was truly empathetic and supportive.

A common feature across these accounts was that perceptions of satisfaction and empathy were intertwined with a growing sense of closeness to healthcare providers, fostered through ongoing and informal interactions. These experiences were recalled as holistic encounters in which the development of a personal connection with healthcare professionals and the perception of empathic care occurred simultaneously. Although Participant J described the genetic counseling session itself as maintaining a serious tone, they consistently reported feeling more at ease in informal settings, where they felt better able to express their genuine thoughts and concerns.

Discussion

EDT has been applied in various medical service contexts, yet little is known about its applicability to genetic services. This study is the first to examine patient satisfaction with genetic counseling through the EDT framework. Consistent with EDT, we found that the confirmation or disconfirmation of expectations shaped perceptions of satisfaction and empathic care. Genetic counseling practice routinely aims to meet or exceed client expectations; accordingly, substantial research has investigated outcome variables in genetic counseling, leading to the development of validated outcome measures. Additionally, numerous studies have examined patient satisfaction directly (Shiloh et al. 1990; Bleiker et al. 1997; Sagi et al. 1998; Stadler and Mulvihill 1998; Veach et al. 1994; Nordin et al. 2002), demonstrating that patients generally report high satisfaction with genetic counseling and perceive significant benefit from the comprehensive information provided. Tercyak et al. (2001) developed the Genetic Counseling Satisfaction Scale (GCSS), which has demonstrated reliability for broad application within the field (DeMarco et al. 2004). Beyond satisfaction measures, instruments assessing client expectations and needs, as well as the quality of counselor-client relationships, have been developed (Peters and Petrill 2011; Erby et al. 2021). These instruments have been employed to examine relationships between counseling experiences and outcomes such as empowerment— an essential indicator of genetic counseling effectiveness (Oberguggenberger et al. 2016; Choi et al. 2025; Raîche et al. 2025).

The present study extends prior research by elucidating how patients’ perceptions of counseling performance—including expectation fulfillment, empathy, and information provision—relates to satisfaction. Although EDT has been effective in predicting satisfaction in emergency medicine and telemedicine settings (Serrano et al. 2018; Cassidy-Smith et al. 2007), its application to genetic counseling has remained unexplored. Given the rapid expansion and diversification of genetic counseling services, EDT may offer a valuable theoretical foundation for understanding the mechanisms underlying service quality and patient experience.

Participants expressed a wide range of expectations, including receiving information, decision-making support, and access to potential therapeutic options. Some attended counseling based solely on their physician’s recommendation and lacked an understanding of the role of genetic counseling. When expectations were unclear or misaligned with the purpose of the service, misunderstandings arose. These findings underscore the importance of communicating the aims and scope of genetic counseling before the session.

Our findings also suggest that expectation disconfirmation may influence retrospective evaluations of genetic counseling. Even empathic communication and relationship-building efforts may not be perceived positively when patients’ expectations remain unmet. Minimizing expectation disconfirmation may therefore be important for fostering positive perceptions of providers’ empathic behaviors and of the therapeutic relationship. This implies that provider‑focused evaluations alone are insufficient for improving the quality of genetic counseling. Training and assessing providers’ counseling skills represent only one aspect of quality enhancement; if genetic services and support fail to align with patients’ needs and expectations, patients may not come to perceive the encounter as “meaningful genetic counseling.” To better align counseling with patients’ evolving expectations, several strategies may be useful, including exploring patients’ prior experiences, perceptions of prior genetic counseling, and expectations for the session, incorporating opportunities for feedback, and using post-counseling surveys. Assessing patients’ needs and goals through pre-visit questionnaires may further support expectation management. Nevertheless, such assessments primarily reflect patients’ initial expectations and needs, which may evolve throughout the counseling process.

Notably, some participants who had no clear expectations—or whose expectations were unmet—still reported satisfaction after multiple encounters. This suggests that expectation confirmation or disconfirmation alone does not fully explain satisfaction. In cases where satisfaction occurred despite negative disconfirmation, participants attributed their positive evaluations to perceived compassion, conveyed through informal, repeated interactions outside the formal counseling session. These results indicate that EDT explains only part of the satisfaction process and that a complementary framework focusing on interpersonal care is needed. This interpretation aligns with previous studies showing that preparatory materials improved satisfaction with interpersonal aspects of care even when overall satisfaction did not differ (Wetzels et al. 2007). Repeated interactions appeared to foster trust and rapport, enabling acceptance of genetic counseling through affective rather than purely cognitive pathways. Participants highlighted the value of frequent check-ins and informal conversations during routine procedures such as blood draws. These findings may be interpreted through the Japanese concept of omotenashi—a culturally embedded form of implicit hospitality characterized by anticipating needs and providing personalized care (Hara and Oka 2014; Hara 2018). The defining characteristic of omotenashi is anticipating guest needs based on contextual understanding to provide satisfaction. In this context, satisfaction may emerge when patients perceive such implicit care as an expression of compassion, even in the absence of explicit expectations being met. This suggests a conceptual model in which service delivery involves two complementary dimensions: (1) explicit services that address stated needs (e.g., genetic testing explanations, formal counseling), and (2) implicit services composed of empathic, relationship-building behaviors. In Japan’s high-context cultural environment, implicit provider behaviors may particularly influence trust formation and satisfaction.

The present study also provides insights into how CGCs can contribute to the broader delivery of genetic healthcare in Japan. Participants’ experiences highlighted the importance of informal touch points, such as brief interactions outside formal counseling sessions and casual conversations during follow-up visits. Although CGCs in Japan are not authorized to make diagnoses or order genetic tests under the current healthcare system, they are well positioned to contribute to the design and delivery of genetic healthcare services by incorporating such informal touch points and creating additional opportunities for trust building. For patients who may require long-term or even lifelong engagement with healthcare services, a care model that fosters ongoing interpersonal connections may enhance satisfaction with healthcare services and promote adherence to recommended follow-up and treatment. Taken together, these findings highlight the importance of strategically incorporating CGCs into genetic healthcare systems, not only as providers of genetic counseling but also as facilitators of ongoing patient engagement, trust, and continuity of care.

Limitations

This study has several limitations. Although thematic saturation was achieved, the findings are exploratory. The assumption that satisfaction may relate to empathic care was informed by previous qualitative work and requires quantitative validation. Future studies should incorporate established measures, such as the Genetic Counseling Satisfaction Scale (GCSS) (Tercyak et al. 2001; DeMarco et al. 2004), the Consultation and Relational Empathy (CARE) measure (Mercer et al. 2004), and the Working Alliance Inventory (WAI-SR) (Hatcher and Gillaspy 2006), along with assessments of pre-counseling expectations. Additionally, genetic medicine in Japan is rapidly changing, and the relevance of current findings may be time-limited. Further research is necessary to assess how expectations, empathy, and relationship-building influence satisfaction across evolving service contexts. It is also important to note that this study relied on retrospective interviews, and the time elapsed since participants’ genetic counseling sessions varied considerably. Although this is part of the insights captured in our findings, experiences both within and outside the healthcare system during the follow‑up period may have influenced how participants recalled their genetic counseling experiences.

Despite these limitations, this study offers practical implications for genetic counseling. Patient expectations vary and may sometimes be absent altogether; however, comprehensive information and psychosocial support must be grounded in an understanding of patients’ expectations and needs. When healthcare providers and patients are able to share contextual understanding, both satisfaction and trust in providers may be enhanced.

Conclusion

This study examined expectations and satisfaction in cancer genetic counseling through the lens of expectation–disconfirmation theory. Findings suggest that satisfaction is shaped by (1) prior expectations and perceived usefulness after counseling, and (2) trust built through long-term interactions with staff. These insights emphasize the need for clear communication about the scope of genetic counseling, particularly in emerging service settings. They also highlight the importance of interpersonal relationships in shaping patient experience—an essential consideration in staffing and resource planning for Japan’s under-resourced genetic counseling services. Integrating EDT with interpersonal care models may provide a more comprehensive framework for future research and practice.

Author contributions

CT: Conceptualization, Methodology, Validation, Formal analysis, Investigation, Resources, Data curation, Writing–original draft, Writing–review and editing, Project administration. MW: Methodology, Validation, Formal analysis, Data curation, Writing–review and editing. HM: Writing–original draft, Writing–review and editing. MH: Writing–original draft, Writing–review and editing, Project administration. Author CT confirms that they had full access to all the data in the study and take responsibility for the integrity and accuracy of the data analysis. All authors have given final approval for this version to be published and have agreed to be accountable for all aspects of the work, ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Data availability

Data supporting the findings of this study are available upon request from the corresponding author of this paper. The data are not publicly available owing to privacy and ethical restrictions of the study.

Declarations

Ethics approval

Human studies and informed consent: Approval to conduct research on human participants was obtained from the Institutional Review Board of the Biomedical Research Ethics Committee of Ochanomizu University (No. 2021-13, 2024-5). All procedures were performed in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and the Helsinki Declaration of 1975, as revised in 2000. Informed consent was provided by all the participants.

Animal studies

No non-human animal studies were conducted by the authors for this article.

Conflict of interest

Chikako Tomozawa, Motoko Watanabe, Hidehiko Miyake, and Makoto Hirata declare no conflicts of interest.