Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer ...predisposition syndromes, risk becomes embodied and shared in family groups. Embodied risk is experienced whether or not symptoms have manifested. To examine how individuals and families with genetic risk experience the world and understand their disease through their bodies, we employ Li-Fraumeni syndrome (LFS) as an exemplar. LFS is a rare, genetic, cancer predisposition syndrome with nearly 100% lifetime cancer risk starting from birth, limited opportunities for prevention, rigorous screening protocols, and early mortality.
Forty-five families, including 117 individuals aged 13–81 years, enrolled in the National Cancer Insitute's LFS study (NCT01443468) completed 66 open-ended interviews regarding LFS experiences. An interdisciplinary team used modified grounded theory to explore physical aspects of living with LFS in psychosocial contexts.
The physicality of living with LFS included constant monitoring of LFS bodies across the family to identify physical change that might indicate carcinogenesis. Cancer screening, risk reduction, and treatment acted as dually protective and invasive, and as an unavoidable features of LFS. Connections between family members with similar embodiments normalized aesthetic changes and supported coping with visible markers of difference. In some circumstances, participants objectified the body to preserve the self and important relationships. In others, intense pain or loss created thresholds beyond which the self could no longer be separated from the body to support coping.
This paper focuses on Li-Fraumeni syndrome, a familial condition with a well-established genetic identity in which the body-self is experienced in relation to important others, to medical imaging, and to historical experiences with cancer. We expand on theories of embodied risk and inter-embodiment to describe experiences across disease trajectories, with attention to division and union between body, self, and other.
•Embodiments of genetic risk are formed in social, medical, and historical contexts.•Embodiments of cancer risk are shared in families with heritable genetic mutations.•Cancer risk management may be protective, yet also invasive and unavoidable.•Inter-embodiments normalize treatment-based aesthetic and functional change.•Division and union between body, self, and other may facilitate coping with risk.
Objectives
Adolescents and young adult (AYA) cancer survivors face unique medical and psychosocial sequalae, including chronic health conditions, late effects of treatment and fear of recurrence. The ...meaning of cancer survivorship may be further complicated for AYAs with hereditary cancer predisposition syndromes. This study used a patient‐centered framework to investigate how AYAs with Li‐Fraumeni syndrome (LFS) consider cancer survivorship.
Methods
An interprofessional team conducted 30 semi‐structured interviews with AYAs (aged 18–41, mean 31 years) enrolled in the National Cancer Institute's LFS Study (NCT01443468). Twenty had experienced at least one cancer diagnosis. Interview data were thematically analyzed by an inter‐professional team using interpretive description and grounded theory methods.
Findings
Participants viewed “survivorship” as a period marked by no evidence of formerly diagnosed disease. By contrast, participants felt the label “survivor” was tenuous since LFS is characterized by multiple primary malignancies and uncertainty about intervals between one diagnosis and the next. Many AYAs viewed survivorship as requiring a high degree of suffering. Though many personally rejected “survivor” identities, almost all articulated its various functions including positive, negative, and more complicated connotations. Instead, they chose language to represent a range of beliefs about survival, longevity, prognosis, and activism.
Conclusions
AYAs with LFS struggle with the term “survivor” due to their multi‐organ cancer risk, short intervals between malignancies, and evolving identities. Loved ones' cancer‐related suffering informed perspectives on survivorship. Survivorship care for AYAs with cancer risk syndromes requires interprofessional interventions that address their unique biomedical and psychosocial needs.
The reproductive decision-making of young people (aged 15–39 years) with Li-Fraumeni syndrome (LFS), an early onset inherited cancer syndrome, has not been studied in depth. Using interpretive ...description methodology, we conducted semi-structured interviews with 30 young Australians (mean age 25.5 years) diagnosed with LFS or at 50% genetic risk. With reflexive thematic analysis, we show how young people’s reproductive decision-making and ideals for family formation were shaped by a sense of genetic responsibility to ensure the health of future biological kin. Reproductive technology provided choices for family formation in the context of LFS and also complicated reproductive decisions, as these choices were difficult to understand, make, or carry out. We uphold that reproductive decision-making when living with LFS is a profoundly moral practice that may pose significant challenges for young people navigating their formative years. We offer genetic counseling practice recommendations to support individuals with LFS when making reproductive decisions.
This study explored the genetic testing experiences of adolescents and young adults (AYAs; aged 15-39 years) with, or at 50% risk of, an early onset cancer predisposition syndrome: Li-Fraumeni ...syndrome (LFS).
We used interpretive description and conducted semi-structured interviews with 30 AYAs (mean age 25.5 years): 26 with LFS and four at 50% risk. Findings were developed using team-based, inductive thematic analysis.
Participants reported genetic testing uptake to reduce uncertainty about their gene status and to access cancer risk management. Learning their gene status, however, introduced a new uncertainty about living with high multi-organ cancer risk. Participants preoccupied with surviving cancer during diagnostic testing underestimated the implications of LFS. Reliance on family at this life stage complicated decision-making for genetic testing, especially among adolescents.
AYAs undergoing genetic testing for LFS have unique support needs based on their life stage and require developmentally appropriate psychosocial care.
This study explored the experiences of young people with hereditary diffuse gastric cancer (HDGC), an inherited cancer predisposition syndrome, as they navigate becoming and being a parent.
We used ...interpretive description and conducted semi-structured interviews with 13 young Australians (18-39 years) with a CDH1 pathogenic variant (PV). Data were analyzed using team-based, reflexive thematic analysis.
Participants' reproductive decisions centered on the perceived manageability of HDGC, namely via gastrectomy, and timing of their genetic testing. Participants yet to have children and those with challenging gastrectomy experiences favored using reproductive technologies to prevent passing on their PV. Parents who had children before genetic testing described complicated decisions about having more children. Gastrectomy was considered a parental responsibility but recovery diminished parenting abilities.
Young people with HDGC face unique challenges navigating reproductive decision-making and parenting with gastrectomy. Findings lend credence to calls for longitudinal, developmentally sensitive genetic counseling services.
As cancer therapies increase in their complexity, effective communication among patients, physicians, and research staff is critical for optimal clinical trial management. Currently, we understand ...little about on-trial communication practices and patient trial experiences over time. This mixed-method study explored patient experiences of participating in a clinical drug trial at different time points, focussing on patient communication with trial staff.
Patients enrolled in clinical drug trials conducted at the Parkville Cancer Clinical Trials Unit were invited to complete a tailored online survey and/or a qualitative interview. Patients were recruited to three cohorts based on time since the first trial treatment: new (≥ 1 to ≤ 13 weeks), mid- (≥ 14 to ≤ 26 weeks), and long-term (≥ 52 weeks) trial patients. Descriptive statistics were calculated for survey responses. Interview data were analysed thematically with a team-based approach. Survey and interview data were integrated at the intepretation stage.
From May to June 2021, 210 patients completed a survey (response rate 64%, 60% male), 20 completed interviews (60% male), and 18 completed both. More long-term trial patients (46%) participated than new (29%) and mid-trial patients (26%). Survey data showed high (> 90%) patient satisfaction with the provision of trial information and communication with trial staff across trial stages, and many reported trial experiences as above and beyond standard care. Interview data indicated that written trial information could be overwhelming, and verbal communication with the staff and physicians was highly valued, especially for enrolment and side effect management among long-term patients. Patients described the key points along the clinical trial trajectory that merit close attention: clear and well-communicated randomisation practices, reliable pathways for side effect reporting and prompt response from the trial staff, and end-of-trial transition management to avoid a sense of abandonment.
Patients reported high overall satisfaction with trial management but outlined key pinch points requiring improved communication practices. Establishing a range of effective communication practices among trial staff and physicians with patients in cancer clinical trials may have a wide range of positive effects on patient accrual, retention, and satisfaction.
Background and Objective
Consumer engagement improves research quality and relevance but can be difficult to implement. This study aimed to explore the motivations and understand the barriers, if ...any, experienced by consumers before and when partnering with cancer research teams.
Methods
Semi-structured interviews were conducted with consumers and the results analysed thematically. Two groups were recruited: consumers who were members of the consumer registry and patients who did not have previous experience of being a consumer in a researcher partnership.
Results
Twenty-one interviews were conducted with a total of 22 participants aged between 26 and 74 years. Consumers motivation was driven by altruism to help others and personal benefits. Barriers to beginning and maintaining consumer engagement included consumers’ perceptions of being appreciated by researchers and meaningful communication between researchers and consumers.
Conclusions
Australian policy has made important steps towards consumer engagement in research. This study showed that demonstrating an appreciation for consumers and effective communication are key areas to consider when designing implementation strategies of these policies in the cancer research space in the future.
Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and ...confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client’s perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it. Semi-structured qualitative interviews were conducted with 16 genetic counselors from selected states across Australia. Data collection and analysis were guided by a basic iterative approach incorporating a hybrid methodology to thematic analysis. The findings provide indicative evidence of genetic counselors employing a relational approach in three escalating stages––covert, overt and authoritative––to encourage the disclosure of genetic information. The findings lend credence to the notion that genetic counselors envision a form of relational autonomy for their clients in the context of sharing genetic information, and they depart from individualistic conceptions of care/solely client-centered counseling when addressing the needs of other family members to know their genetic status.
Background:
CASCADE is a successful, Australia-first cancer rapid autopsy programme. Patients are recruited to the programme by their clinician once they understand that further treatment has only ...palliative intent. Despite its value, rapid autopsy is a rare research method owing partly to recruitment challenges.
Aim:
This research aimed to explore (1) how, in practice, clinicians select and recruit patients to the programme and (2) patient experiences of this process.
Design:
This was a qualitative study grounded in phenomenology. CASCADE team members (clinicians and researchers) and patients participated in semi-structured interviews. Data were analysed using an inductive, team-based approach to thematic analysis.
Participants:
Interviews were conducted with 31 participants (11 patients and 20 CASCADE team members).
Results:
Patient selection and recruitment to a rapid autopsy programme is both an art and science. In practice, patient selection is a subjective process that involves assessing a patient’s psychosocial suitability for the programme. Trust and rapport are necessary for informing this assessment and to create an environment conducive to discussing rapid autopsy. Clinicians have also crafted their own ways of delivering information about CASCADE, with both clinicians and patients acknowledging that, if not handled sensitively, recruitment could cause distress. Overall, patients were satisfied with the way in which they were recruited.
Conclusion:
Findings provide insight into how clinicians successfully select and recruit patients to a rapid autopsy programme and suggests that discussing such topics are acceptable to end-of-life patients. This research also raises thought-provoking questions about the ‘gatekeeping’ role of clinicians in recruitment.
Objective
Tamoxifen has been demonstrated to reduce breast cancer risk in high‐risk, premenopausal women. Yet, very few young women with hereditary breast and ovarian cancer syndrome in Australia use ...tamoxifen, despite this being a less‐invasive option compared to risk‐reducing mastectomy. This study aims to examine young women's decision‐making about and experience of taking tamoxifen to reduce their breast cancer risk.
Methods
Young women with a BRCA1/2 mutation participated in semi‐structured qualitative interviews, recruited mainly from a metropolitan clinical genetics service. Data were analysed using an inductive, team‐based approach to thematic analysis.
Results
Forty interviews with women aged 20–40 years with a BRCA1/2 mutation were conducted. Eleven women could not recall discussing tamoxifen with their healthcare provider or were too young to commence cancer risk management. Twenty‐three women chose not to use tamoxifen because it is contraindicated for pregnancy or because it did not offer immediate and great enough risk reduction compared to bilateral risk‐reducing mastectomy. Six women who were definite about not wanting to have children during the following 5‐year period chose to use tamoxifen, and most experienced none or transient side effects.
Conclusions
Decision‐making about tamoxifen was nuanced and informed by considerations characteristic of young adulthood, especially childbearing. Therefore, clinical discussions about tamoxifen with young women with a BRCA1/2 mutation must include consideration of their reproductive plans.
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