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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. [ABSTRACT FROM AUTHOR]

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie's Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie's Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program. [ABSTRACT FROM AUTHOR]

The most effective option for gastric cancer risk management in individuals with a CDH1 germline pathogenic or likely pathogenic variant (PV) in Australia is prophylactic total gastrectomy (PTG). There is, however, increasing confidence in endoscopic surveillance as a risk management strategy thus affording individuals with a CDH1 PV with challenging decisions regarding their gastric cancer risk management. For young people, this decision‐making comes at a complex development stage of emerging and young adulthood. This study aims to explore the factors that influence young people's decision‐making about their gastric cancer risk management due to a CDH1 PV. Potential participants were identified and approached through the Parkville Familial Cancer Centre in Melbourne, Australia. Thematic analysis was used to interpret and analyze the data. Qualitative interviews were conducted with 13 people with a CDH1 PV aged 18 to 39 years, inclusive. The interviews found that participants' familial and shared experiences of cancer and risk management, perceived tolerance of uncertainty, and desire for control over their cancer risk were fundamental in their decision‐making about their gastric cancer risk management. The participants' young adult life stage was also deemed particularly important in decisions about the timing of PTG. The findings of this study are vital to inform decisional counseling discussions with this unique population. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: Tubo-ovarian cancer (TOC) is a sentinel cancer for BRCA1 and BRCA2 pathogenic variants (PVs). Identification of a PV in the first member of a family at increased genetic risk (the proband) provides opportunities for cancer prevention in other at-risk family members. Although Australian testing rates are now high, PVs in patients with TOC whose diagnosis predated revised testing guidelines might have been missed. We assessed the feasibility of detecting PVs in this population to enable genetic risk reduction in relatives., Patients and Methods: In this pilot study, deceased probands were ascertained from research cohort studies, identification by a relative, and gynecologic oncology clinics. DNA was extracted from archival tissue or stored blood for panel sequencing of 10 risk-associated genes. Testing of deceased probands ascertained through clinic records was performed with a consent waiver., Results: We identified 85 PVs in 84 of 787 (11%) probands. Familial contacts of 39 of 60 (65%) deceased probands with an identified recipient (60 of 84; 71%) have received a written notification of results, with follow-up verbal contact made in 85% (33 of 39). A minority of families (n = 4) were already aware of the PV. For many (29 of 33; 88%), the genetic result provided new information and referral to a genetic service was accepted in most cases (66%; 19 of 29). Those who declined referral (4 of 29) were all male next of kin whose family member had died more than 10 years before., Conclusion: We overcame ethical and logistic challenges to demonstrate that retrospective genetic testing to identify PVs in previously untested deceased probands with TOC is feasible. Understanding reasons for a family member's decision to accept or decline a referral will be important for guiding future TRACEBACK projects., Competing Interests: Belinda CreightonEmployment: Cancer Specialists 1/84 Bridge Rd, Richmond VIC 3121 AustraliaConsulting or Advisory Role: Bristol Myers Squibb, Eisai Dinuka AriyaratneResearch Funding: AstraZeneca Elizabeth ChristieHonoraria: AstraZeneca Sian FeredayConsulting or Advisory Role: Geneseq Biosciences Pty LtdResearch Funding: AstraZeneca (Inst), AstraZeneca (Inst) Nadia TraficanteResearch Funding: AstraZeneca (Inst) Bryony ThompsonConsulting or Advisory Role: Genetic Technologies Kenneth DoigStock and Other Ownership Interests: CSL Limited Christopher LoveEmployment: Geneseq Biosciences Yeh Chen LeeConsulting or Advisory Role: GlaxoSmithKlineResearch Funding: AstraZeneca (Inst)Travel, Accommodations, Expenses: AstraZeneca Rachel WilliamsHonoraria: AstraZeneca Andrew N. StephensConsulting or Advisory Role: Invion Pty Ltd (Inst)Research Funding: Invion Pty Ltd (Inst) Adeline TanEmployment: Sonic HealthcareStock and Other Ownership Interests: Sonic Healthcare Stephen B. FoxConsulting or Advisory Role: Novartis (Inst), BMS (Inst), AstraZeneca (Inst), MSD (Inst), Pfizer (Inst), Roche (Inst)Research Funding: AstraZeneca (Inst), Amgen (Inst), Roche (Inst), BMS (Inst)Expert Testimony: AstraZeneca (Inst), MSD (Inst)Travel, Accommodations, Expenses: Ventana Medical Systems, AstraZeneca, MSD Mary-Anne YoungUncompensated Relationships: Illumina (Inst) Jane HillOther Relationship: Medicines Australia Paul A. CohenEmployment: St John of God HealthcareStock and Other Ownership Interests: Clinic IQHonoraria: AstraZenecaConsulting or Advisory Role: Clinic IQResearch Funding: ANZGOG, St John of God Foundation Penelope M. WebbResearch Funding: AstraZeneca (Inst) Michael FriedlanderHonoraria: AstraZeneca, MSD, Lilly, Takeda, Novartis, GlaxoSmithKlineConsulting or Advisory Role: AstraZeneca, MSD, AbbVie, Lilly, Takeda, Novartis, GlaxoSmithKlineSpeakers' Bureau: AstraZeneca, ACT GenomicsResearch Funding: BeiGene (Inst), AstraZeneca (Inst), Novartis (Inst)Travel, Accommodations, Expenses: AstraZeneca David BowtellHonoraria: AstraZenecaConsulting or Advisory Role: Exo TherapeuticsResearch Funding: Roche/Genentech, AstraZeneca, BeiGenePatents, Royalties, Other Intellectual Property: AstraZeneca Genentech Roche Kathryn AlsopResearch Funding: AstraZeneca (Inst)No other potential conflicts of interest were reported.