For individuals with pathogenic/likely pathogenic variants (PVs) in BRCA1/2, risk-reducing salpingo-oophorectomy (RRSO) substantially lowers ovarian cancer risk but involves complex, preference-sensitive decisions. Emerging approaches to risk stratification and early detection, such as polygenic risk scores (PRS) and multi-cancer early detection (MCED) tests, may offer additional information relevant to this decision. However, how BRCA1/2 carriers perceive and integrate these tools when considering RRSO remains poorly understood. Semi-structured interviews were conducted with 24 female participants with BRCA1/2 PVs and no prior RRSO (M = 35.8, SD = 7.3). Transcripts were analyzed using Inductive Content Analysis. PRS generated high interest and was perceived as potentially useful for informing the timing of RRSO. MCED, in contrast, was viewed more cautiously, raising concerns about test accuracy, psychological impact, accessibility and cost, and uncertainty around follow-up procedures, with clinician guidance shaping its use. PRS and MCED were viewed as additional information to contextualize the RRSO decision, rather than determine it. While PRS and MCED may add nuance to risk communication and support planning or reassurance, they remain secondary to established clinical and personal factors shaping RRSO decisions. While PRS appeared more acceptable, MCED implementation may depend on stronger evidence around test performance to support informed decision-making.
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic pathogenic germline variants in the same Lynch syndrome (LS) gene. Affected individuals have a markedly increased risk of cancer before age 18. The frequency with which adults with LS are counseled about CMMRD and their understanding of the reproductive risk for CMMRD are uncertain. This study evaluated the awareness of CMMRD and the impact of CMMRD risk on reproductive decision-making among adults with LS. An IRB-approved electronic survey was distributed via MyChart to adult LS patients at Penn Medicine’s King Center for Lynch Syndrome, through the King Center’s listserv, and in partnership with the advocacy organization Alive and Kick’n. The survey assessed prior knowledge of CMMRD, its influence on reproductive choices, and the perceived importance of discussing CMMRD risk after LS diagnosis. Responses were analyzed using descriptive and inferential statistics. Among 150 respondents, 29
As germline genetic testing indications expand, barriers to testing persist. We evaluated the feasibility of a novel approach in which patients with cancer underwent genetic testing first, with follow-up genetic counseling only for those found to have a germline pathogenic variant (PV). Patients with advanced solid tumors who were <1 year from diagnosis were recruited. Participants received germline multi-gene panel testing after providing informed consent. Results were communicated by a research coordinator if negative and by a genetic counselor if a PV or variant of uncertain significance (VUS) was identified. Participants testing positive were scheduled for a genetic counseling visit. Participants and providers completed follow-up satisfaction surveys. Time to genetic test results was compared with a control group of patients undergoing genetic testing as recommended per standard of care. 125 patients were identified as eligible and 91 (73
Lynch syndrome is one of the most common inherited cancer predispositions. Widespread implementation of tumour-based screening and increased awareness and availability of germline genetic testing has substantially increased identification of individuals with Lynch syndrome. They are presented with complex, personal decisions about cancer surveillance, targeted treatments such as immunotherapy and prevention strategies throughout the lifespan. However, fragmented service delivery and variable integration of genetics into routine cancer care pathways present significant challenges to optimal management. This review examines the challenges of integrating genetic testing and Lynch syndrome management into routine cancer care pathways. Recommendations for a patient-centred, lifespan-oriented framework informed by clinical evidence and lived experience are proposed. Clinical, research and policy evidence was synthesised alongside insights from patient and public involvement. Three patient advocate co-authors contributed narratives from their lived experience and broader perspectives informed by engagement with international patient and advocacy networks. Mainstreaming genetic testing within oncology enables timely diagnosis and treatment stratification but remains inconsistently implemented due to system-level barriers, workforce capacity, evolving guidelines and fragmented communication. Suboptimal coordination adversely affects cascade testing, surveillance uptake and patient experience, with potential to exacerbate health inequities. Integration of molecular pathology, precision oncology, clinical genetics, peer support and psychosocial care is essential to translate advances in tumour profiling and immunotherapy into sustained benefits for patients and families. Lived experience insights highlight the importance of clear clinical ownership, longitudinal follow-up, shared decision-making and psychosocial support across the lifespan. We propose an integrated, lifespan-oriented framework incorporating centralised coordination, interoperable digital tools, joined-up cross-specialty guidelines, education, proactive genetic and psychosocial counselling at key life stages, and codesigned care pathways embedded within routine cancer services. A patient-centred, lifespan-oriented management approach is essential to optimise cancer prevention, early detection, treatment outcomes and quality of life in Lynch syndrome. Embedding patient and public involvement, education and system integration within cancer pathways provides a scalable model that may inform care delivery for other hereditary cancer predispositions.
Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease caused by pathogenic variants in the adenomatous polyposis coli (APC) gene and requires lifelong surveillance and surgical intervention such as colectomy. Studies have shown that individuals living with FAP experience a range of challenges, including altered bowel function, anxiety about developing cancer, and concerns about genetic transmission, but most have focused on short-term experiences. Consequently, this study aimed to explore the long-term psychosocial experiences of individuals living with FAP more than 10 years after diagnosis. Between January 2025 and January 2026, semi-structured interviews were conducted with individuals living with FAP more than 10 years after diagnosis. An interview guide was used, and participants were primarily asked about their experiences of living with FAP after diagnosis. The interviews were audio recorded with the participants’ permission and then transcribed verbatim. A qualitative inductive approach was used for analysis. All 10 participants resided in Japan. The mean age was 53.7 ± 16.3 years, and the mean time since diagnosis was 25.5 ± 8.9 years. All had undergone total colectomy. Four categories of psychosocial experiences of individuals living with FAP more than 10 years after diagnosis emerged: feeling abnormal and developing a negative self-perception due to the hereditary nature of FAP, feeling socially constrained by the limitations imposed by FAP, constructing an identity as a person living with FAP while sharing experiences with peers, and finding inner growth and greater depth in life through having a hereditary disease. The psychosocial experiences of individuals living with FAP more than 10 years after diagnosis fell into four categories. Although they felt “abnormal” and experienced inner conflict and isolation due to the limitations that FAP imposed on their lives, they also discovered an identity through sharing experiences with others living with FAP, and found meaning in life and value in their existence. Consequently, support for individuals living with FAP must extend beyond medical management to include the promotion of societal understanding and accompanying individuals through the process of deriving meaning from their experiences.
