Family storytelling about hereditary cancer: Framing shared understandings of risk

2.1 Participants

Upon receiving IRB approval, this study used purposive and snowball sampling to recruit subjects who have a prevalent FHH of hereditary cancer (Creswell, 2007; Merriam, 2014). According to the National Cancer Institute (2013), an individual has a prevalent FHH of hereditary cancer if she/he has three or more relatives with specific types of cancer that seem to be inherited (especially early onset) or if an individual has cancer at an early age (especially multiple forms of cancer in the same person). A prevalent history also includes a known pathogenic gene variant in a cancer susceptibility gene within the family (NCI, 2013). Subjects were recruited through advocacy organizations that aim to bring people with hereditary cancer together for informational and support purposes such as FORCE (Facing Our Risk of Cancer Empowerment), Bright Pink, Lynch Syndrome International, Colon Cancer Alliance for Research and Education for Lynch Syndrome, and Li–Fraumeni Syndrome Family and Friends Support Group. These advocacy groups shared recruitment information about the study on their social media pages. Further, subjects were also recruited from the 7th Annual HBOC Patient Conference at the Baylor College of Medicine Medical Center in Houston, Texas, and the 11th Annual FORCE Conference in San Diego, California. As part of recruitment, participants were asked to recruit a family member to participate in the study with them. Recruited family members were not required to be at-risk. Overall, 42 family dyads completed joint phone interviews and follow-up surveys. For participant descriptions, see Table 1.

2.2 Procedures

In-depth phone interviews were conducted in a semi-structured format beginning with the prompt, ‘Please tell the story of your family's experience with hereditary cancer, and try to tell it to me as if I’m a family member who does not know much about this history’. Answers to this question helped establish that participants had a prevalent FHH of hereditary cancer and encouraged dyads to share the family narrative of hereditary cancer. When applicable, dyads were asked to tell a story that they may have told together at some point to increase ecological validity (Koenig Kellas & Trees, 2005). Thus, open-ended questions were constructed to capture FHH information in a story format. Probing questions supported a conversational yet structured interview with family dyads. Interviews were audio-recorded and transcribed, lasting an average of 38 min. All interviews were de-identified, and pseudonyms are used to protect participants’ privacy. At the end of interviews, participants were debriefed and thanked for their participation. Upon completion of the family interview, each member of the dyad was sent a link to an online follow-up survey to answer demographic questions. Upon completion of the survey, each family member received a $20 Amazon Gift Card. Data collection ended upon reaching theoretical saturation, in which participant interviews provided rich contributions to the research goals of the study and responses became similar with no new or emergent data (Tracy, 2013). Interviews were conducted between April 2018 and November 2018.

2.3 Data analysis

As this study focuses on narrative content of family stories on hereditary cancer, data were analyzed qualitatively using a phronetic iterative approach that alternated repeatedly between emergent data and past research (Tracy, 2012). This inductive approach refined analysis over time to narrow explications and situate findings in the current literature (Ellingson 2013). Using previous research in the CNSM tradition, narrative tone and framing were used as sensitizing constructs for analysis (Koenig Kellas & Trees, 2005; Kranstuber Horstman et al., 2016). The goal of this data analysis was to provide rich descriptions of overarching themes in tone and frame without fracturing family narrative accounts (Riessman, 2008). By examining themes and trends, this study explicates how narrative tone and frame relate to and reflect coping, perceptions of risks, and medical decision-making. This approach worked well for discovering how narrative tone contributed to framing, defining themes among frames, and examining trends between frames and outcomes.

Open coding began by journaling initial thoughts regarding emerging themes, prevalent family storytelling behaviors, and health outcomes after interviews (Tracy, 2012). After all interviews were transcribed, the researchers both read and listened to dyadic family interviews again to identify first-level themes related to how families were emotionally expressing tone and framing their narratives (Tracy, 2013). First, the content of family stories was coded for the degree to which participants expressed positive or negative affect. For instance, a story that had a higher degree of negative affect was defined as one with a negative feel, in which participants expressed negative emotions such as crying or yelling while jointly telling their stories. Stories with a higher degree of positive affect were defined by content that was cheerful, in which participants were laughing or upbeat during interaction. Next, using definitions of frames as the emotional sequence of a narrative, stories were initially coded for positive and negative framing (Kranstuber Horstman et al., 2016). Definitions of positive and negative frames include redemptive sequences—stories that end on a positive or hopeful note; contamination sequences—stories in which a storyteller may begin positive, but the story concludes in a negative light; and ambivalent—stories that are neither redemptive nor contaminated (Koenig Kellas, 2018; Kranstuber Horstman et al., 2016). Although these definitions were used to classify narratives during first-level coding, these frame categories from previous research did not adequately fit the emergent data. This moved analysis into second-level coding to develop and refine more nuanced framing categories that best fit the empirical data.

Guided by Owen’s (1984) criteria for thematic interpretation in data analysis, emergent themes in second-level coding were recurrent, repetitious, and forceful. Thus, second-level coding led to the development of the emergent framing categories of empowerment, adversity, laissez faire, and discrepant. Through constant comparison between sensitizing constructs from CNSM and the emergent data, the researchers ensured these second-level codes fit the data and were representative of family narratives of hereditary cancer within and across interviews (Charmaz, 2014). Definitions of the emergent framing themes lead to the development of a codebook to manage data and keep analysis consistent for this study (Ryan & Bernard, 2003). Further, in examining prevalent second-level codes for frames among dyadic interviews, the researchers also identified patterns between the ways in which families were framing their narrative and psychological and physical outcomes. Based on these patterns, the researchers added a third level of axial coding to examine how overarching frames such as empowerment, adversity, laissez faire, and discrepant reflected how families were coping, making sense of risk, and making medical decisions (Saldana, 2015).

3.1 Empowerment

In this example, Susan feels conflicted because the diagnosis of a BRCA2 gene variant and her cancer diagnosis were emotionally difficult, but having answers about her hereditary condition and having the ability to be proactive reflect more positive emotions and better coping. Overall, Susan and Charlette's narrative had positive narrative tone, which created the empowerment frame. This frame reflects family members’ motivation to get genetic testing, pursue preventive care, and find doctors they feel suit their needs. Indeed, both Susan and Charlette pursued genetic testing immediately upon their doctor's recommendation. Charlette also said she pursued preimplantation genetic diagnosis to eliminate future risks for her children. Susan and Charlette's narrative focuses on knowledge and being proactive, which was present in all family narratives within the empowerment frame.

In this example, the frame Casey and Laura use echoes the importance of becoming your own advocate and getting informed to better manage health risks. While she and her sister feel anxiety about when they might get cancer, their narrative tone overall is positive because they focus on being proactive and taking control in the face of that anxiety. Moreover, not framing this condition as a death sentence reflects their perceptions of risk for Lynch syndrome. While this condition increases their risks of developing a Lynch-related cancer, it does not mean that they will die, especially if they manage their risks through prevention. Casey followed her doctor's recommendations to undergo a proctocolectomy and a prophylactic hysterectomy after receiving her colorectal cancer and Lynch syndrome diagnoses. After Casey's genetic test results and surgeries, Laura chose to undergo genetic testing. Near the end of their story, both Casey and Laura agree that they are lucky to get a Lynch syndrome diagnosis because with their preventive screening options available, they feel ‘better off than the general population’. Casey goes further by framing her colon and endometrial cancer experiences as something positive for the family since she was able to alert her sister and other members to their risks. Among family narratives in the empowerment frame category, dyads stories focused on improving knowledge, being proactive, and focusing on positive emotions such as gratitude. Although these family narratives often started with negative emotions such as anxiety, shock, and fear, dyads reached a turning point in their narratives in which family members discussed feeling in control of risks by being proactive.

3.2 Adversity

Families using an adversity frame told stories about how their perceptions of risks (a) caused intrusive thoughts about developing cancer and (b) had ruined their lives. These families expressed their difficulty in coping with their lifetime hereditary cancer risks and often felt overwhelmed by anxiety, which motivated family dyads to be proactive or avoidant in managing their risks. Families telling stories fitting the adversity frame had often watched generations of family members suffer or die due to hereditary cancer, which made the risks of developing a life-threatening cancer seem almost inevitable.

Due to their FHH, Nancy and Paige have experienced intrusive thoughts about their risks of cancer, which was why Paige chose to have a double mastectomy to reduce her risks of a breast cancer reoccurrence. As Paige shares her family story of hereditary cancer, the narrative tone is very serious and melancholy with Paige crying while explaining what happened to her daughter. Family narratives in the adversity frame category all used negative affect in tone during storytelling. Nancy said she too feels the threat of cancer is inevitable even though she does not have a gene variant for LFS, which also shows she is still experiencing intrusive thoughts about cancer with a negative result. This frame reflects some family members’ motivation to make proactive medical choices to improve their chances of catching cancer early. Family stories using this frame all included discussions of difficulty emotionally coping with future risks. Families using the adversity frame discussed feeling worried about their risks, their relatives’ risks, and who else they might lose to cancer. Although some using the adversity frame still make proactive medical choices motivated by these negative emotions, others fitting the adversity frame category were avoidant in their medical decision-making.

Because she perceives the outcome of the genetic testing results will be difficult to cope with, Nicole is motivated to avoid genetic testing although she knows other family members have Lynch syndrome. The tone throughout their family narrative is quite negative and highly emotional. The tone and frame throughout Nicole and Beth's hereditary cancer narrative demonstrate how too much fear and a lack of feeling able to cope prompted Nicole to avoid information about her risks and limits her ability to engage in prevention methods. Similarly, other family dyads fitting into the adversity frame category also discussed avoiding information about their risks by stressing how much cancer ruined lives and how the fear was overwhelming. Feeling overwhelmed and choosing to be avoidant of information limited these family dyads’ ability to make proactive medical decisions. One aspect that Nicole does not verbally connect in her story, similar to other family dyads using the adversity frame, is that even if she is not aware of her hereditary cancer risks, if she is positive for Lynch syndrome there is a high likelihood that more cancers will occur or reoccur even if she continues to avoid the information. Overall, families using an adversity frame had negative emotional tone throughout their stories, in which they were either motivated by anxiety to be proactive or their anxiety was so overwhelming that they became avoidant of hereditary cancer risk information.

3.3 Laissez faire

Amy's attitude about possibly getting cancer or having a pathogenic gene variant was that there is not much she can do to change that fate, so she unemotionally accepts it. Although she talks about thinking about next steps, she and her mother later talk about her reluctance to go to the doctor or follow up with screening appointments. Further, Melissa discusses the family's attitude toward their FHH is to laugh about it and make jokes to avoid the emotional pieces of that history. Melissa also notes that they do discuss this topic, but that their talks are shallow, and members are not sharing much information with each other about the FHH or what they should be doing to manage their personal risks. Fitting with the laissez-faire frame, Amy and Melissa were not motivated to become more active in managing their risks. This example reflects the unemotional acceptance and information avoidance of families using the laissez-faire frame. Interestingly, families using this frame did not experience hereditary cancers in their immediate family and often discussed putting off testing or avoiding risk information.

Ashley used the same frame and tone as her father when discussing why she wants to wait on getting tested. This was characteristic of other parent–child dyads across frame categories except discrepant, with adult children often mirroring and reinforcing their parent's story in their responses. Ashley and her father feel that finding out they have a pathogenic BRCA2 variant should not change how they are currently managing their health. Similar to other dyads using the laissez-faire frame, Steven and Ashley's narrative does not reflect motivation to engage in preventive screenings and justifies Ashley's decision to continue putting off genetic testing. Indeed, both Steven and Ashley are unemotionally accepting of their BRCA2 risks. What is problematic about using this frame and tone is that Steven's HBOC-related cancer risks as a man are less serious than Ashley's potential risks if she also has a BRCA2 gene variant. Thus, to not get tested or to wait until later in life when she has children to get tested could be a risky decision as Ashley will not be engaging in preventive screenings such as mammograms and MRIs or considering prophylactic surgeries to prevent cancer if she does have the gene variant. Further, Ashley seems somewhat indecisive about testing, which may suggest that this type of storytelling does not facilitate an accurate assessment of her risks. Other factors related to being at risk for a BRCA2 result likely influence Ashley's decision even though this story emphasizes inaction and emotional distance. As this story is coconstructed, Ashley may be feeling pressure to match her father's narrative by not bringing in other views or considerations, which can limit how the family makes sense of their risks. Overall, families using the laissez-faire frame tended to share inaccurate risk information or had important information related to risk and medical decision-making missing. Throughout these narratives, family members were not emotional when telling their story, and had an attitude of acceptance that their diagnosis would not change anything for them.

3.4 Discrepant

Although Hannah felt pressure from the guilt of losing her mother and has her sister frequently checking in, she still had an ‘it is what it is’ attitude about her risks and did not want to actively engage in prevention because she did not want deal with the emotions it brings up. It is also Helen that was driving prevention behaviors while Hannah would prefer to avoid getting screenings because each time it brought back emotional memories. Thus, discrepant frames reflect different coping mechanisms and the tension family storytelling about hereditary cancer can create. Without Helen and her attempts to pull Hannah back into using the empowerment frame, Hannah might further avoid information. Discrepant frames in this dyad did not create or reflect relational conflict, but did reflect the pressure Helen feels to take care of her sister. This was similar for other dyads using discrepant frames, including parent–child dyads when bonds were not so egalitarian. Indeed, when discrepant frames were used in parent–child storytelling, it was often the adult children using an empowerment frame to stress the need to be proactive to a parent using a laissez-faire frame. Throughout families using discrepant frames, members did not have the same interpretation or outlook for their hereditary cancer risks.

Although the doctors found a precursor to sarcoma in Betsy's pathology after her hysterectomy, Ben was not focusing on the surgery as having saved her life. Both family members were talking about the same event, but their narrative tone and frame about Betsy's hysterectomy and medical decisions were different. In this example, Betsy uses an empowerment frame to discuss her risks, which is discrepant from Ben's use of the laissez-faire frame. Betsy and Ben's different outlooks and different forms of coping created some relational problems when Betsy was first learning about her diagnosis and going through her surgery. Overall, Betsy reported receiving little support from her spouse and still deals with intrusive thoughts with little outlet to discuss these feelings at home. Thus, while Betsy might have positive outcomes related to her proactive medical decisions based on her perceptions of risk, the discrepant frames about her hereditary cancer risks reflect and relate to poor coping and add to the couple's relational strain. Among dyads using discrepant frames, stories reflected conflicting risk perceptions and medical choices and relational tension. Often in family narratives fitting the discrepant frames category, family members would dismiss another's point of view, mock a family member's outlook on hereditary cancer risk, and openly discuss not feeling emotionally supported by their family member.

4.1 Practice implications

Findings from the current study can be used to develop interventions targeting efforts to help families re-frame their narratives to support improved coping, accurate risk perceptions, and proactive medical decision-making. Genetic counselors and practitioners need to be aware of how narrative frames can reflect and influence patients’ and family's health decisions and directly discuss these frames during consultations. Further, these family narratives may reflect the emotionality of the family history if members have lost close relatives, the recency of these losses, where an at-risk individual is in their life span, and their relationship with another family member participating in storytelling. Genetic counselors are well situated to probe into how patients are feeling about their risks and practice narrative medicine, in which practitioners provide patient care with empathy and appreciation for how patient stories affect health (Charon, 2001). By discussing and trying to understand patient stories, genetic counselors can identify what type of resources the patient needs based on the frame they are using.

Genetic counselors, when counseling patients with a hereditary cancer condition, can provide information about the health condition, risks, and treatment; however, it may be beneficial for genetic counselors to also use the empowerment frame as they are helping patients make sense of a new genetic diagnosis. For instance, as genetic counselors are explaining the implications of genetic testing to patients prediagnosis they can explain how learning more about their potential condition is a way to better manage their health and protect other family members by alerting relatives to their risks. Further, at the time of diagnosis practitioners also need to give patients tools to think more deliberately about how they will frame their story, especially for probands as they are the first to be diagnosed in the family and their story is likely to be particularly impactful (Peterson et al., 2003). Helping patients construct their narrative before leaving the clinic can help patients organize their thoughts and express their emotions in a story that alerts others to risk and equips members to make proactive medical choices.

These findings also lend themselves to providing practice recommendations in genetic counseling for patients using frames that may reflect poor psychological outcomes and avoidant medical decision-making. For instance, laissez-faire patients need an information intervention that stresses both their risks and what options are available to patients for possibly preventing cancer. As these dyads had not experience a cancer diagnosis or loss in the immediate family, they may not be as emotionally affected by their risk. Within ethical guidelines, counselors can stress patients’ susceptibility to cancer and the severity of their risks while also emphasizing efficacy to help patients move past unemotional acceptance statements (Witte & Allen, 2000). Genetic counselors can also present stories from families using the empowerment frame to help patients using an adversity or laissez-faire frame connect with peer examples of how others cope better by having a sense of control through proactive decision-making. Indeed, patient testimonies and stories can often be a powerful persuasive tool to motivate patients to pursue care (Bekker et al., 2013). Finally, genetic counselors can also help prepare patients for difficult emotions, family conflict, and discrepant frames during FHH conversations. Further, genetic counselors may be well situated to work with multiple family members as relatives often attend genetic counseling sessions together (Gaff, Galvin, & Bylund, 2010). In these situations, genetic counselors can better assess barriers in family communication to provide tailored recommendations to help families share their story, exchange support, and promote prevention efforts.

4.2 Research recommendations

The findings of this study present areas for future intervention research and testing. First, families using the laissez-faire frame present a salient challenge as they may be misinformed about their risks and avoidant of discussing hereditary cancer. Future research should examine what resources families may need to re-frame their stories at home when members are not willing to attend clinical consultations. For example, probands often receive a family letter to share with relatives to disclose their test results and alert others to their potential risks. In addition to this family letter, patients may also need conversational tools such as drafting a script with the aid of a genetic counselor to broach this subject with family and create a story that accurately shares medical information. In helping patients intentionally craft their story, genetic counselors can also learn more about other important factors that may influence family narratives and patient risk perceptions and medical decisions. Through this process, providers can more closely examine the temporal nature of narratives about hereditary cancer (Trees, Keonig Kellas, & Roche), as events across the cancer prevention and control continuum such as deaths in the family, movement through the life span, and changing family relationships can alter the family narrative.

Second, counselors can help patients develop communication strategies for talking with family members who may have discrepant views. Preparing patients for challenges in these family conversations and giving them tailored advice to troubleshoot communication breakdowns can better equip patients to share risk information and exchange support. Developing disclosure and family communication tools can help better prepare patients to have productive family conversations about the FHH and hereditary cancer risks. Developing narrative interventions to help families re-frame hereditary cancer narratives can aid in helping families cope with their lifetime cancer risks and make proactive medical decisions to better manage those risks. Findings from this study also lend themselves to a model of genetic counseling in continued multidisciplinary care, in which genetic counselors continue to counsel and support patients with hereditary disease risks past initial consultations. Although this model may place additional burden on genetic counselors and not be as feasible in areas without readily available access to genetic counselors (Heald et al., 2016), the continued presence of genetic counselors in patient care can help patients receive updated risk information as advances continue in genomic medicine and provide more opportunities for genetic counselors to guide patient care from diagnosis through prevention and possible treatment.

4.3 Study limitations

First, although this study presents interesting findings regarding family communication about hereditary cancer, the sample is limited as it is predominantly made up of Caucasian, well-educated participants. These diversity limitations are important to discuss as family is nested within cultural norms, which can influence how relatives discuss health (Bochner, 1976) and their ability to access health resources and services such as genetic counseling (Hall & Olopade, 2005). However, it stands to reason that if the families in this study who have resources face family communication challenges, these problems can be exacerbated in families with limited access to practitioners and information. Second, participants were recruited through advocacy organizations and social media support groups for patients managing hereditary cancers so there may be a selection bias as participants may be more active in managing their risks than the rest of this population (Collier & Mahoney, 1996). However, based on family narrative accounts in which some participants revealed this was a topic they preferred not to think or talk about and/or were uninterested in this topic, selection bias may not have been as prevalent a problem in this exploratory research.

Conflict of interest

Gemme Campbell-Salome and Emily Rauscher declare no conflicts of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.

Animal studies

No nonhuman animal studies were carried out by the authors for this article.