2.1 Procedure

The inclusion criteria were female tested positive for BRCA1/2 PVs between the ages of 16 and 24 years at least 6 months before the present study but no longer than 5 years ago. Fluent in Norwegian and ≥18 year of age at the time of the interview. Eligible participant could not be a former patient of the authors. The authors did not participate in the study recruitment process. All the participants were recruited by a genetic counselor through the Medical Genetics Department of a University Hospital in Norway, where they had received genetic counseling before predictive testing for BRCA 1/2. Invitation letters were sent to 12 eligible participants and one participant received invitation letter in person through an educational support group for women tested positive for BRCA PVs. Invited women interested in participating could respond by returning a written consent in a prepaid replay envelope sent to the first author. The women who provided written consent were contacted by the first author via telephone to arrange an interview. Participants could choose to be interviewed at a hospital or in another preferred location.

2.2 Instrumentation

Individual semi-structured interviews were conducted between December 2022 and January 2023. Four women chose face-to-face interviews at the hospital, and one chose video interview owing to travel distance. First author conducted all interviews, but both female authors with long-standing experience in counseling for hereditary cancer attended first interview. An interview guide with a few open-ended questions was used to promote more elaborate and narrative responses. The questions were clarified to ensure that the answers were understood correctly. The audio-recorded files were transcribed verbatim. Names and places were converted into pseudonyms.

2.3 Data analysis

Both authors participated in all analyses. The results were presented to a user representative, who recognized several of the results. The qualitative research software NVIVO was used to systematize and analyze the data and maintain an analysis log.

2.4 Ethical issues

The Regional Committee for Medical and Health Research Ethics (2022/488658) defined the study as a quality-of-care study and therefore did not require approval. This study was approved by the data protection officers of the University Hospital.

3.1 Participants characteristics

Five of thirteen invited women responded (38%) with completed consent form and agreed to be interviewed; time ranged from 60 to 80 min (M = 68). All the participants had maternal inheritance of the BRCA PVs. Characteristics of the five participants can be found in Table 1.

3.2 Overview of themes

Table 2 shows the three main themes and the seven subthemes which were identified from our analysis.

3.3 Theme 1: Experience with genetic counseling and testing

Three subthemes were established. One dealt with the women's need for more information. The second concerned how the decision-making process had taken place prior to genetic testing. The third dealt with the experience of the waiting period and the identification of the BRCA PV.

3.4 Theme 2: Impact of pathogenic variants on participants' future

Two subthemes were identified. One deals with the significance of the pathogenic variant in family planning, while the other deals with their perception of the risk of developing cancer and their choice of risk-reducing measures.

3.5 Theme 3: Social and psychological support needs

Two subthemes were identified regarding the need for social and psychological support. Some participants had supportive social systems, but still experienced loneliness. Another aspect dealt with the need for follow-up after testing positive for a pathogenic variant and completion of genetic counseling process.

4.1 Experience of genetic counseling and testing

The findings from our study showed that women came for genetic counseling with the need for more information. The communication of genetic information from parents to children can be inadequate, filtered, or cause misconceptions (Patenaude et al., 2013; Rowland et al., 2016). Patients recognize genetic counseling as the primary source of reliable information (Werner-Lin, 2008b; Young et al., 2017). One of the main goals of genetic counseling is empowerment (Veach et al., 2007). Empowerment is defined in genetic counseling as “a set of beliefs that together enable one to feel some degree of control over and hope for the future” (McAllister et al., 2008, s. 901). One empowerment dimension is cognitive control, which means “having sufficient knowledge and understanding of the genetic condition” (McAllister & Dearing, 2015, s. 116–117). Our findings show that genetic counseling contributes to better awareness and understanding among women. However, some studies have found that too much information can be overwhelming. Hoskins et al. (2012) showed that genetic counseling can be an intense experience owing to anxiety-inducing amounts of information. Our study reviled that not everyone was familiar that they can find summarized information about BRCA in their electronic patient records, and therefore its importance to address this information. According to Mancini et al. (2006), written information supplementing oral information can increase satisfaction and enhance decision making. Similar to the women's feedback in our study, Young et al. (2019) showed that young adults may need information about genetic counseling and basic genetic information prior to genetic counseling. Furthermore, Young et al. showed that many wanted written information, brochures, or website referrals to supplement genetic counseling.

Cognitive control contributes to both safety and coping, while its absence can cause insecurity and anxiety (Eide & Eide, 2007). Some participants in our study were scared from a recall for additional breast check examinations; they were unaware that recall was normal and did not necessarily mean the detection of breast cancer. Lack of knowledge about performing a breast self-examination, what is normal to feel during a breast examination, and changes during the menstrual cycle also caused insecurity. Providing such knowledge can help empower patients.

Patient information should be adapted to each phase (Eide & Eide, 2007). The findings of our study are consistent with those of a previous study (Hoskins et al., 2012) which showed that not everyone is capable of or wants information about further interventions when a positive test result is provided. One should check an individual's needs and determine whether they want information before it is given (Eide & Eide, 2007).

Most women in our study decided to undergo genetic testing in advance and did not use genetic counseling for decision support. Other studies have also shown that most young people make up their minds before undergoing genetic counseling to take the genetic test, with many seeking to reduce uncertainty (Brunstrom et al., 2016; Godino et al., 2018; MacLeod et al., 2014). Findings in our study showed that for the women unsure about undergoing genetic testing, it was helpful to know that she could take the genetic test later or change her mind before receiving the results. Furthermore, it helped to be supported in making an independent choice. Another dimension of empowerment is having decisional control, which is “having options or feeling able to make informed decisions between options” (McAllister & Dearing, 2015, s. 116–117). These results are consistent with those of previous studies (Godino et al., 2018; MacLeod et al., 2014), showing that young women feel that they have made an independent choice about genetic testing, which were usually in line with, and sometimes contrary to their parents' wishes. This indicates that their parents' wishes did not pressure the women in our study. This result contrasts with that of a previous review (Godino et al., 2016), which showed that younger people have felt pressured. Godino et al. (2019) showed that parents feel they control their children's decisions. However, young adults who become more independent may also be sensitive to influence and desire parental support in their decisions (Werner-Lin et al., 2012; Wood et al., 2018). The fact that parents express a desire to be tested may influence their decisions (Sie et al., 2013).

The findings from our study agrees with those of a previous study (Lodder et al., 1999), which showed that even if the waiting time for the test results was long, it was well tolerated by most people. However, this may be difficult for some individuals. The women in our study were distressed after being diagnosed with a pathogenic variant, although not all showed strong reactions. Some participants prepared themselves for the possibility that they inherited the pathogenic variant, which was helpful, as opposed to the one who expected not to inherit the pathogenic variant. However, a study by MacLeod et al. (2014) showed that although many young people have tried to prepare themselves for a positive test result it can still be shocking.

Women's motivation for undergoing the genetic test was to avoid uncertainty and know what they had to deal with. Reducing uncertainty is a well-known motivation for genetic testing (Baty et al., 2006; Skirton, 2006). For the women in our study, dealing with uncertainty about their genetic status may have been more emotionally stressful than learning about it. Even highly unfavorable news can be preferred over uncertainty and give better control and calmness (Folkman & Lazarus, 1991). While some participants, especially those whose mothers had cancer at the time, were stressful over being diagnosed with a pathogenic variant, others stated that they were relieved after clarification of their genetic status. No participant regretted taking the genetic test at a young age and stated that they would recommend testing to others under 25 years of age. It is also provided more time to process and prepare future risk-reducing decisions. Previous studies have also shown that few people under the age of 25 years regret their decisions and clarification is perceived positively through increased awareness and control of life (Brunstrom et al., 2016; MacLeod et al., 2014; Sie et al., 2013).

4.2 Impact of the pathogenic variant on participants' future

In line with previous studies (Brunstrom et al., 2016; Hesse-Biber et al., 2022), our findings show that being diagnosed with a BRCA PV can be a burden, putting extra pressure and urgency on decisions that could be postponed. Furthermore, findings from our study showed that not everyone thought about or felt ready for family planning and can feel pressured to hurry due to questions and advice from health professionals. These findings are supported by previous studies (Wellman et al., 2023; Werner-Lin et al., 2012; Young et al., 2017), where women have felt pressure from health professionals to speed up decisions, they have not felt ready for. The participants in our study expressed concerns about future children inheriting the pathogenic variant, whether and when it is right to have children, and fear that children will have to experience having a mother with cancer. This finding aligns with the results from other studies (Dean et al., 2023; Hesse-Biber et al., 2022; Hoskins et al., 2012). Our findings also support previous studies (Campbell-Salome & Barbour, 2022; Evans et al., 2016; Hoskins et al., 2012; Young et al., 2017), which show that participants' risk perception and intention for risk-reduction intervention is guided by family history and decisions made by other affected family members before them. For example, participants compared the age of diagnosis and cancer type of a close relative when assessing their own risk. Furthermore, people are more likely to undergo risk-reducing surgery if they have a family history of cancer (Hamilton et al., 2009) or to choose risk-reducing surgery if their first-degree relative had the same type of cancer (Campbell-Salome & Barbour, 2022; Metcalfe et al., 2008).

Compared to older women, younger women may have a limited understanding of risk (Gavaruzzi et al., 2019; McGill et al., 2019; Werner-Lin et al., 2012). Our findings show that younger women must be made aware that they have a lower risk during their youth, which explains why breast checks do not start before the age of 25 years. This information may help them to better tolerate waiting times. Most participants in our study were worried about developing cancer at a young age. This is in line with previous studies (Hoskins et al., 2012; Werner-Lin et al., 2012), which showed that women experienced a fear of developing cancer even though they knew the risk was low at their age. Furthermore, young women may want to start surveillance before 25 years of age (Sie et al., 2013; Werner-Lin et al., 2012). This wish could be due to a desire for concrete action, even though they rationally know that the risk is low. The women in our study who started surveillance said that it gave them a feeling of security. Furthermore, they felt calmer when performing breast self-examination or using contraceptive pills to reduce the risk of ovarian cancer. This is in line with previous study showing that undergo surveillance is a way to manage their uncertainty (Dean & Fisher, 2019). The McAllister and Dearing (2015, p. 116–117) dimension of empowerment, which concerns behavioral control, also supports this finding. In other words, utilizing health services can “reduce harm or improve life.”

In the present study, young women thought more about the choice of risk-reducing breast removal. They dwelled on the right time for surgery versus breastfeeding opportunities. This is in line with other similar studies (Haddad et al., 2021; Hesse-Biber et al., 2022; Hoskins et al., 2012). However, thoughts about risk-reducing removal of the ovaries and fallopian tubes were not as prominent, as the recommended age for such surgery was much higher. None of them expressed a particular urgency to have children, although one woman considered having children. Women diagnosed with BRCA PVs at the reproductive age may feel a sense of urgency to have children (Haddad et al., 2021; Werner-Lin, 2008a). However, women below age of 25 years still have some years before the recommended age for risk-reducing surgery. In a study by Hesse-Biber et al. (2022), most women who had children after being diagnosed with a pathogenic variant were between 26 and 30 years old. Our findings in line with Wellman et al. (2023) indicate that, although the topic about family planning should be addressed, caution should be exercised to not create unnecessary stress for women under the age of 25. In line with one woman's experience in our study, decisions regarding family planning and the timing of risk-reducing surgery are developmental processes that can change with age and life circumstances (Evans et al., 2016). The woman's earlier decision to have risk-reducing breast surgery and not have biological children changed as she grew older. In contrast to the more straightforward decision-making processes of older women, younger women experience more complex and prolonged decision-making (Evans et al., 2016; Werner-Lin et al., 2012). According to Puski et al. (2018), women identified with BRCA PVs under 40 years of age who do not have children or have had cancer may experience a greater need for support and follow-up during their decision-making process.

4.3 Social and psychological support needs

Our study showed that social support is essential, and a lack of support from like-minded individuals can lead to loneliness. Being the only sibling inherited the pathogenic variant or having a parent who was sick and required attention made the participant feel particularly lonely. This result agrees with the findings of previous studies that support from loved ones is not always sufficient and peer support can be beneficial (Evans et al., 2016; O'Neill et al., 2018). Educational support groups can facilitate meeting and connecting with like-minded people and, furthermore, strengthen women's need for information, social support, and decision-making and can reduce anxiety (Bertonazzi et al., 2022; Listøl et al., 2017; Myklebust et al., 2016). Some women who participated in the educational support group felt that the program was beneficial. However, our study discovered that most women felt lonely as young participants and that educational support groups were not organized for them. Several did not find themselves at home in Facebook support groups. Young women tested positive for BRCA PVs are at a stage at which many have not yet met a partner or have children and the choice of risk-reducing surgery is not yet prominent. Their need to learn coping techniques and share their experiences with their peers seems more critical. For better uncertainty management for the youngest BRCA positive women information seems to be essential. Dean et al. (2017) highlights that post-testing information needs to be tailored to their personal situation. Furthermore, they desire emotional support from other peers, whereas later they need more detailed information and recommendation for risk-reduction operation and support for the decision-making process. Our findings also show that patients planning for families need to focus on these topics in educational support groups or in a separate course in which the partner can participate. To the best of our knowledge, no BRCA educational support groups in Norway are specially designed to meet the youngest women's needs, nor BRCA support groups or peer counseling options are available in Norway. A study on telephone-based support counseling, focusing on coping and competence-building for young women at risk of breast cancer showed lower anxiety, fewer decision-making conflicts, and increased coping strategies among young women (O'Neill et al., 2018).

Our findings showed that women highly valued the opportunity to contact a genetic counselor or offer follow-up counseling, if needed. These needs can emerge with changes in life situations. Furthermore, not everyone was aware that genetic counselors could be contacted related to psychological and social issues. This opportunity for emotional support can be helpful for coping and to manage the uncertainty (Dean et al., 2017; Fisher et al., 2017). The genetic counselor should help patients understand and “adapt to the medical, psychological, and familial implications of the genetic contribution to disease” (Resta et al., 2006, s. 79). Although genetic counselors should be available for follow-up and support (Skirton et al., 2013), they should not extend beyond their role in long-term psychological follow-up (Boghosian et al., 2021; Werner-Lin, 2008b). Our findings also showed that some women needed a psychologist, and appreciated recommendations if a psychologist referral was needed. Mental health problems such as worry and stress are common among adolescents and have increased in the last 10 years among girls aged 13–24 (Folkehelseinstituttet, 2023). Hamilton et al. (2009) noted that the burden of inherited a BRCA PV comes with other pressures and worries. Recently, 16.3% of women with BRCA PVs between 25 and 55 had moderate to severe cancer-related distress on average 5 years after genetic testing (Metcalfe et al., 2020). This finding highlights the need for easily accessible psychological services. One study showed that a psychologist affiliated with the medical genetics department provided high patient satisfaction and more access in addition to synergistic effects, such as psychologist contributions in joint clinical consultations, multidisciplinary teams, and psychosocial support and education for the clinical team (Firth et al., 2022).

4.4 Practice implications

This study indicates that young women identified with a BRCA PV need better support and follow-up. Information leaflets on genetic counseling and basic genetic information prior to genetic counseling may be helpful. Information about available summarized BRCA information in the patient record must be emphasized. To better cope with the uncertainty, these young women can be provided with information on performing a breast self-examination and what to expect to feel in a breast. Furthermore, information that recall for additional examinations may occur after MRI or mammography, which does not necessarily indicate the presence of a cancerous tumor. Follow-up counseling can be helpful to managing uncertainty. Therefore, the opportunity to contact genetic counselors must be emphasized, and the women can be provided information on suitable psychologists. Our findings indicate that these young women can feel lonely and need emotional support to better coping with their ongoing uncertainty. Therefore in Norway, the need for educational support groups designed for younger women identified with BRCA PVs are essential, along with establishing other meeting arenas and peer support programs.

4.5 Strengths and limitations

Semi-structured interviews were conducted as they were flexible and suitable for an open narrative description of the women's experiences using open and follow-up questions in the interview guide. The transcripts were not returned to participant for comments and corrections. However, misunderstandings were minimized by clarifying the questions, and new themes that emerged in the first two interviews were included in further interviews, as recommended by Kvale et al. (2018). The first author's lack of experience with research interviews may have resulted in less robust material, which is a weakness (Kvale et al., 2018). Both authors know the field as genetic counselors, which may have strengthened their understanding of where the focus should be placed and may have enhanced communication. Furthermore, according to Kvale et al. (2018) and Thagaard (2018), knowing the field can also be a weaknesses as it may prevent the discovery of new aspects of a phenomenon. This potential bias has been discussed at several stages to increase awareness.

The participants recruited from the educational support groups received an invitation in person, which made refusal more difficult than an invitation letter sent by post. The interview guide was reviewed by a genetic counselor and user representative, resulting in minor adjustments. However, the first interview was planned as a pilot interview to test the interview guide, timeframe, and technical equipment, as recommended (Malterud, 2017). The first interview was considered essential for the study and was, therefore, included in the study in line with Malterud (2017). By transcribing the interviews ourselves and analysis by both authors strengthened reliability (Thagaard, 2018). Furthermore, the data analysis software NVIVO was used to organize the codes and maintain an analysis log. Due to the inclusion criteria and the low number of young BRCA carriers in our region, not many participants were identified for recruitment. The study sample was small and homogeneous, with five participants, and the findings are not considered representative of the entire population of young women with the BRCA PVs. As stated by Malterud (2017), a lower number of participants such as four to seven may be sufficient if they highlight various aspects of the issue through rich and varied data material. This is also in line with Hennink and Kaiser (2022), who claim that rich and nuanced data may describe the phenomenon better than the number of participants. According to Sims and Cilliers (2023) it is not the number, frequency that is the most important, but the meaning and the relationships between the codes and the trustworthiness of the explanations they provide regarding the phenomenon under investigation. In the opinion of Toner (2009), a small sample size can provide very rich data, and the data material must not be discarded because of the small number of participants, especially because research data from small groups can still inform decisions.