Perception of Family Genetic Testing for Hereditary Breast and Ovarian Cancer: A Survey of Patients and General Public.

INTRODUCTION
Breast cancer is the most common cancer among women worldwide and the most frequently diagnosed cancer in women in South Korea.1 While most breast cancers—over 70%—occur sporadically, approximately 5–10% are attributed to hereditary breast cancer caused by germline pathogenic variants (PVs) inherited from parents.2 Among hereditary breast cancer cases, approximately 70% are associated with Breast Cancer Susceptibility Genes 1 and 2 (BRCA1/2) PVs. Additionally, PVs in genes, such as ATM, CDH1, CHEK2, PALB2, PTEN, STK11, and TP53, have been identified as causative factors.234 Germline PVs in BRCA1/2 have also been identified in up to 15–20% of patients with unselected epithelial ovarian cancer.5
When family genetic testing identifies the same PV in a relative of the patient, it signifies an increased risk of cancer development, even in the absence of a current diagnosis. Therefore, systematic management for early diagnosis and prevention is essential. Women with BRCA1/2 PVs are recommended to undergo regular breast cancer screening, such as mammography or breast magnetic resonance imaging, starting at age 25. To prevent ovarian cancer, risk-reducing salpingo-oophorectomy is advised between the ages 35 and 40. For men over 40 with BRCA1/2 PVs, regular prostate cancer screening is also necessary.3
Obtaining a detailed pedigree for patients with BRCA1/2 PVs and conducting genetic testing on family members are critical steps for managing and preventing cancer in high-risk families.67 Despite the recognized importance of family genetic testing, only 12–54% of patients diagnosed with hereditary cancer communicate their genetic test results to family members.589 One study noted that 70% of patients shared their genetic results with relatives10; however, the actual rate of genetic testing among relatives of patients with hereditary breast and ovarian cancer syndrome was only 33%.11
Research on family genetic testing has predominantly been conducted in Western countries. In contrast, in South Korea, only 2 domestic studies have focused on the perceptions of family testing among patients with breast or ovarian cancer possessing BRCA1/2 variants.1213 To establish strategies for promoting family genetic testing, it is crucial to investigate the perceptions of not only patients but also the general public.
This study examined perceptions of family genetic testing related to hereditary breast and ovarian cancer genes among patients with cancer and the general population and identified barriers to its implementation.

METHODS

Study participants and procedure
The participants, all of whom were Korean individuals, were recruited from September 1 to September 30, 2024, through a recruitment notice posted at Ewha Womans University Mokdong Hospital. A total of 186 individuals who voluntarily agreed to participate were included. The patient group consisted of 86 individuals diagnosed with breast, ovarian, or other types of cancer, while the public control group included 100 individuals without a cancer diagnosis. Participants were excluded if they had a diagnosis of a psychiatric disorder, were undergoing treatment for a psychiatric disorder, or were younger than 19 years. After enrollment, all participants received education on hereditary breast and ovarian cancer and family testing, followed by a knowledge test to assess their understanding. Subsequently, they completed a perception questionnaire regarding family genetic testing. These procedures are described in Fig. 1 and in the following section of the Methods.

Education on hereditary breast and ovarian cancer and family testing
Before completing the “Survey on Family Genetic Testing for Hereditary Breast and Ovarian Cancer,” participants attended an educational session on hereditary breast and ovarian cancer and family genetic testing. The purpose of this session was to provide participants with foundational knowledge, ensuring they had sufficient understanding to answer the survey questions accurately.
The education was delivered via a video accessed through a QR code or a link sent to participants’ smartphones. The video content was developed using the Genetic Counseling Manual Version 2.0, published by the Korean Breast Cancer Society.14 It covered the definition of hereditary breast and ovarian cancer, hereditary cancers associated with BRCA1/2 variants, screening and prevention strategies for individuals with BRCA1/2 PVs, and family testing for BRCA1/2 genes.

Knowledge assessment on family testing for hereditary breast and ovarian cancer
Before completing the family testing perception survey, participants underwent an educational session via video, after which their knowledge levels were assessed. To evaluate participants’ knowledge of hereditary breast and ovarian cancer and family testing, a knowledge assessment tool was adapted from those developed by Erblich et al.15 and Yoo et al.16 The tool consisted of 10 questions. Correct answers were scored as “1 point,” while incorrect answers and “I don’t know” responses were scored as “0 points.” Higher total scores indicated a greater understanding of hereditary breast and ovarian cancer and family testing.

Assessment of general characteristics and perception of family testing
Participants’ general characteristics were collected through a survey (Supplementary Data 1). Additionally, participants were presented with a hypothetical scenario in which they were assumed to carry a BRCA1/2 PV associated with hereditary breast and ovarian cancer. Based on this scenario, participants were asked to answer questions related to family testing. The rate of sharing genetic test results was calculated as the proportion of family members informed, excluding deceased or absent relatives. Family scope was defined as first-degree (parents, siblings, children), second-degree (grandparents, uncles/aunts, nephews/nieces), and third-degree relatives (cousins).3

Data analysis
The collected data were analyzed using SPSS Statistics 27 software (IBM Corp., Armonk, NY, USA). A P value < 0.05 was considered statistically significant. Differences in knowledge scores between the 2 groups regarding the educational intervention were analyzed using χ2 tests to evaluate the response distributions and Mann–Whitney U test to evaluate knowledge scores. Comparisons of general characteristics and response distributions for family testing-related questions between the groups were performed using χ2 tests.

Ethics statement
This study was approved by the Ewha Womans University Institutional Review Board (No. 2024-07-022-004). Informed consent was submitted by all subjects when they were enrolled.

RESULTS

General characteristics of the participants
A comparison of general characteristics between the patient and control groups revealed significant differences in age, sex, presence of children, and previous genetic testing (Table 1). Due to the nature of the diseases, 98.8% of the patient group were female compared to 56.0% in the control group (P < 0.001). Among the cancers diagnosed in the patient group, 94.2% were breast cancer, 3.5% were ovarian cancer, and 2.3% were both. The proportion of participants with at least 1 family member diagnosed with cancer was 54.7% in the patient group and 61.0% in the control group, with no significant difference (P = 0.446).

Knowledge assessment
Post-education median knowledge scores out of 10 were significantly higher in the patient group (10 points, range: 9–10) than in the control group (9 points, range: 8–10, P = 0.040). Question-level analysis revealed that two of the 10 knowledge statements showed significant differences in correct response rates between the patient and control groups. The statement that, “Family members of hereditary breast cancer patients with a pathogenic BRCA variant have a 100% chance of developing breast cancer in the future,” differed significantly between groups (P = 0.044). The statement that, “If a mother has been diagnosed with hereditary breast cancer, her child can be tested for the BRCA gene even before the age of 19,” also showed a significant intergroup difference (P < 0.001).

Family testing perception survey

Sharing genetic test results with family
The overall sharing rate was 54.6%, with that in the patient group (59.6%) being significantly higher than that in the control group (50.0%, P < 0.001) (Table 2). The scope of information sharing with family members was the greatest for first-degree relatives in both the patient (81.0%) and control groups (76.9%), with no significant difference. This was followed by second-degree relatives and third-degree relatives, with a significantly higher frequency in the patient group (Table 2). In the patient group, the family member most frequently informed about genetic test results was the sister (87.8%), while in the control group, it was the daughter (89.7%) (Fig. 2A). Among first-degree relatives, both groups showed the lowest frequency of sharing with fathers (patient group: 69.2%, control group: 59.3%). Higher rates of information sharing with female family members were also observed among second-degree and third-degree relatives (Fig. 2B and C). Among second-degree relatives, information was most frequently shared with nieces; among third-degree relatives, with female cousins. This gender-based pattern was further supported by overall frequencies. In both the patient and control groups, genetic test results were significantly more often shared with female than male family members: 53.0% vs. 47.0% in the patient group (P = 0.028) and 54.5% vs. 45.5% in the control group (P = 0.001) (Supplementary Table 1).

Reasons for sharing or not sharing genetic test results to family
The most common reason for sharing genetic test results was “To inform family members regarding the potential inheritance of a PV and their associated risk of developing hereditary cancer” (84.9%) (Table 3). Significant differences between the groups were observed for the response, “To encourage family members to undergo genetic testing and adopt preventive measures against cancer based on the results” (patient group: 89.5%, control group: 78.0%, P = 0.035).
The most common reason for not sharing genetic test results was “Limited contact with family members due to a lack of close bonding,” with no significant differences between the groups (patient group: 62.8%, control group: 61.0%, P = 0.802) (Table 3). In both groups, the next most common reason for not informing family members was “Concern that sharing genetic information may cause family members to worry about my well-being.” Notably, in the patient group, the third most cited reason was “The burden of explaining complex medical terminology or concepts associated with the test results.”

Methods of sharing genetic test results
There was no significant difference between the patient group and control group in responses regarding who should communicate the genetic test results. In both groups, the most common response was “In person,” reported by 83.7% of the patient group and 81.0% of the control group (Table 4). The most common delivery method of sharing for both groups was also “In person” (patient group: 75.6%, control group: 79.0%).

Age of disclosure of genetic test results to children
Overall, 75.8% of respondents stated that genetic test results should be disclosed to children after they reach the age of 19 (Table 5). Among those who indicated disclosure before age 19, the proportion was 24.4% in the patient group and 22.0% in the control group, with no significant difference between the groups (P = 0.672). The most frequently mentioned reasons for early disclosure were “Prevention and early management” (patient group: 28.6%, control group: 36.4%, P = 0.586) and “Right to know” (patient group: 28.6%, control group: 31.8%, P = 0.817) (Supplementary Table 2). Additionally, the patient group provided the unique reason, “In case I am not around when they turn 19 years old” (14.3%).

DISCUSSION
This study investigates the perception of family genetic testing among patients and controls to promote its implementation. To accurately reflect participants’ perspectives, an educational session was provided prior to the survey to minimize biases due to a lack of information and to capture more realistic perceptions of family genetic testing. By identifying key barriers and attitudes toward testing, the findings provide foundational data to develop strategies for promoting family genetic testing. This study is expected to contribute to the development of effective approaches that encourage uptake by addressing the concerns and perceptions observed among both patients and the general public. The results showed that the overall rate of sharing genetic test results with family members was 54.6% (Table 2). The highest sharing rates were observed for first-degree relatives (78.8%), followed by second-degree (44.6%) and third-degree relatives (39.6%). These findings are consistent with previous studies reporting sharing rates of 64–69% for first-degree relatives and 31–35% for second-degree or more distant relatives.1213 The patient group (59.6%) demonstrated significantly higher sharing rates than the control group (50.0%, P < 0.001). This difference may be attributed to patients’ greater perception of the importance of early detection and prevention due to their personal experience with cancer. The higher knowledge scores following education in the patient group (median: 10 points) than in the control group (median: 9 points, P = 0.040) support this explanation, although the statistically significant difference was marginal, and only 2 questions showed significant group differences.
The analysis of sharing patterns by family relationship revealed that both groups most frequently shared results with first-degree relatives (patient group: 81.0%, control group: 76.9%, P = 0.163), followed by second-degree (patient group: 50.7%, control group: 39.4%, P < 0.001) and third-degree relatives (patient group: 47.9%, control group: 30.5%, P < 0.001) (Table 2). This trend reflects a decline in communication opportunities with more distant relatives, particularly in the control group, where the perception of the need for family genetic testing was lower.
Sex differences were also evident in sharing patterns. Female family members were more frequently informed than male family members in both the patient group (female: 53.0%, male: 47.0%, P = 0.028) and the control group (female: 54.5%, male: 45.5%, P = 0.001) (Supplementary Table 1). The most frequently informed relatives were sisters (87.8%) in the patient group and daughters (89.7%) in the control group (Fig. 2). Conversely, fathers (patient group: 69.2%, control group: 59.3%) and male cousins had the lowest sharing rates, likely due to the misconception that hereditary breast and ovarian cancers are exclusively female concerns. In contrast, a family testing study on prostate cancer reported a higher rate of informing male family members, likely due to the strong perception that prostate cancer is a male-specific disease.17 Therefore, while the types of cancers that occur may differ between men and women, cancer-related genetic mutations are inherited regardless of sex. This highlights the importance of emphasizing through education that family genetic testing should be communicated to all family members, irrespective of sex. In addition to sex-based differences, the results also revealed age-related disparities in information sharing in the patient group: maternal aunts and nieces were more frequently informed, while grandparents were notably less often included. This may be partly attributed to the age distribution of the patient group, the majority of whom were aged 40 or older. Given that their grandparents are likely to be of advanced age, they may be perceived as less relevant recipients of genetic information. This reasoning aligns with the patterns shown in Table 3, particularly the belief that sharing the results would not significantly impact the family’s current health management strategies. However, this perception may underestimate the ongoing risk in older populations. In particular, since the incidence of ovarian cancer increases with age, it is important to educate patients that older family members may still benefit from receiving genetic test results.18 Enhancing awareness of age-related cancer risks can help promote more comprehensive and equitable communication of genetic information within families.
This study found that the most common reason for informing family members of genetic test results in both groups was “To inform family members regarding the potential inheritance of a PV and their associated risk of developing hereditary cancer,” (patient group: 89.5%, control group: 81.0%, P = 0.105), consistent with prior findings (Table 3).1219 Conversely, the primary reason for not sharing results was “Limited contact with family members due to a lack of close bonding,” (patient group: 62.8%, control group: 61.0%, P = 0.802), consistent with other studies reporting a lower likelihood of testing among distant relatives.11
Modern family structures increasingly center on first-degree relatives, with reduced contact or perception of extended family members, complicating the sharing of genetic test results.20 In cases where limited relationships hinder family testing, some studies suggest that healthcare professionals should play a direct role in informing family members.21 However, privacy concerns and logistical challenges often render this approach impractical. Although digital applications have been proposed to facilitate information sharing,22 their use is constrained by the requirement for prior consent. Alternative approaches, such as involving genetic testing centers, have been suggested, but ethical issues remain unresolved.1023
This study also highlighted that the burden of explaining complex medical terms was a barrier to patients sharing their test results. Nevertheless, most patients (83.7%) preferred to personally inform their family members (Table 4). Similar findings in other studies emphasize the patient’s central role as the primary communicator of genetic results, although additional support from healthcare providers is considered essential.1324
To promote family testing, patient education is needed to enhance the understanding of medical concepts and the importance of family genetic testing. Comprehensive educational programs and resources tailored to support patients should be developed to assist patients in communicating with their families. Additionally, the establishment of systematic genetic counseling programs and policy support is essential to enhance family genetic testing. Furthermore, logistical barriers, such as time constraints and distant testing facilities, reportedly hinder family testing13; therefore, providing clear information about accessible testing centers is necessary. These measures will facilitate informed communication and improve participation in family testing.
Regarding the disclosure age to children, 75.8% of respondents preferred to disclose results after the child reached 19 years of age, with no significant difference between the groups (Table 5). Reasons for early disclosure included “Prevention and early management” and “Right to know.” Additionally, 14.3% of patients mentioned the possibility of not being present when their child turns 19 years of age as a reason for early disclosure (Supplementary Table 2). Given the potential psychological and social impacts on minors, a structured disclosure approach to children involving healthcare professionals is recommended.
One of the limitations of this study is the difference in sex distribution between the patient and control groups. Due to the nature of the disease, the patient group consisted primarily of women, whereas the control group included both men and women, making it challenging to directly compare the results between the two groups. This sex disparity may have influenced the interpretation of the study’s findings, underscoring the need for future research designs to include a more balanced sex distribution. Another limitation is the age difference between the patient and control groups. The patient group primarily consisted of individuals over the age of 40, whereas the control group included a higher proportion of younger adults (aged 40 or above; 81.4% vs. 60.0%, respectively, Table 1). Consequently, differences in family composition and contact patterns may have influenced the results. Younger participants in the control group may have had more limited interaction with extended family members, such as second- or third-degree relatives, potentially affecting response patterns related to the perceived scope of family genetic testing, as shown in Table 2. A further limitation is that participants’ knowledge and perceptions were evaluated only after the educational session. Although this approach ensured a standardized level of understanding among participants, it precluded an assessment of baseline knowledge or a measurement of changes resulting from the education. Future research should incorporate both pre- and post-education assessments to more accurately evaluate the effectiveness of educational interventions in promoting the perception of family genetic testing.
In conclusion, promoting family testing requires increasing awareness of the importance of sharing genetic test results with family members through targeted educational initiatives. Emphasizing the critical role of family testing is essential. Furthermore, the development of systematic genetic counseling programs aimed at enhancing family communication and effectively conveying the significance of family testing is vital. These programs should be supported by robust policy measures. Collectively, these efforts are anticipated to contribute meaningfully to the management and prevention of hereditary cancers in the future.