Someone has to tell them : exploring hereditary cancer risk disclosure in Sweden

Abstract: Summary in EnglishBackground: An awareness of hereditary susceptibility for breast, ovarian and colorectal cancer in high-risk families enables targeted cancer prevention. A discovered hereditary risk in one family member (proband) may thus be important for several members of that family. Identified at-risk relatives can be offered surveillance to allow early detection or in some cases risk-reducing surgery to lower the risk of disease and premature death. Problem: The current clinical praxis with family-mediated risk disclosure leaves up to half of all at-risk relatives uninformed of their potential cancer risk. Complementary disclosure pathways have demonstrated promising results suggesting new opportunities to develop clinical management of hereditary cancer risk disclosure. However, concerns over legal liability, risk of inducing cancer worry and lack of robust outcome data from randomized trials among other factors, have hampered translation of emerging findings into clinical practice.Aim: This thesis explores perceptions and preferences on the disclosure of risk information concerning hereditary cancer syndromes in the general public and in patients. The work also estimates cancer worry levels in the Swedish population and explores willingness to participate in screening colonoscopy at different hypothetical levels of lifetime risk of colorectal cancer. Methods: Two quantitative and two qualitative studies were designed to address the aims. Data collection included focus groups, a population survey, and semi-structured patient interviews. Quantitative data was analyzed using descriptive statistics and groups were compared using tests and regression analysis. Interview data was analyzed with inductive qualitative content analysis of both manifest and latent content. Focus was placed on participants’ perceptions and preferences and patients’ management of risk disclosure as well as their interaction with genetic healthcare professionals.Results: Study I describes how lay people view the roles and responsibilities involved in risk disclosure. Respondents assumed genetic healthcare professionals (HCPs) would have a clear mandate in leading the risk disclosure process and wanted to be actively involved in shaping this process. They expected healthcare services to provide easy-to-understand, personalized information suitable for themselves and potential relatives. Findings from Study II show a strong public preference to share and receive risk information about hereditary cancer (90% and 89% respectively in a 10% cancer risk scenario). A majority wanted to receive information about a potential hereditary cancer risk from a healthcare professional (80%) and also preferred healthcare services to inform their at-risk relatives (58%). Preferred options for contact were by letter or telephone, followed by digital options. Study III presents novel data on cancer worry levels in a Swedish population-based sample (mean 9.46 of a total 24 on the 6-item cancer worry scale). Female respondents and those with children had higher cancer worry scores, and those with higher worry levels were also more inclined to participate in a screening colonoscopy. For each increasing risk level presented (5, 10 or 70% lifetime risk of colorectal cancer) more respondents reported interest to undergo colonoscopy. Study IV describes patient experiences of family disclosure, which is seen as difficult yet important, and often performed for the sake of others. Patients also describe the feeling unqualified in the role as proband, while others consider it a straightforward task which needs to be done. The patient data also illustrates the difficulties in communicating complex health information and patients’ struggles to navigate benefits and drawbacks of interacting with relatives. Patients also envisioned solutions to perceived barriers and outlined alternatives for healthcare services to better facilitate the risk disclosure process.Conclusion: Findings in this thesis indicate a missing link in the communication between proband, relative and healthcare regarding hereditary cancer risk information. The combined results suggest that risk disclosure would benefit from being more:Standardized – by increasing transparency about the risk disclosure process and harmonize disclosure options to guide probands and healthcare professional in the clinical setting.Systematic – by establishing follow up of risk disclosure as routine care and clearly define communication duties of healthcare professionals and probands early in the process.Situational – by tailoring professional support for risk disclosure and adapting the content and approach to the coping style, behavioral type and need of each family.Clinical implications: This thesis highlights the challenges of risk disclosure in families with increased risk of hereditary cancer and strengthens the argument for shifting towards more healthcare involvement in the process of informing at-risk relatives. The findings complement existing evidence on how hereditary cancer risk disclosure could develop further to better support proactive management of cancer risk in families affected by hereditary cancer.