Health technology assessment (HTA) can be used to make healthcare systems more equitable and efficient. Advances in precision oncology are challenging conventional thinking about HTA. Precision oncology advances are rapid, involve small patient groups, and are frequently evaluated without a randomized comparison group. In light of these challenges, mechanisms to manage precision oncology uncertainties are critical. We propose a life-cycle HTA framework and outline supporting criteria to manage uncertainties based on real world data collected from learning healthcare systems. If appropriately designed, we argue that life-cycle HTA is the driver of real world evidence generation and furthers our understanding of comparative effectiveness and value. We conclude that life-cycle HTA deliberation processes must be embedded into healthcare systems for an agile response to the constantly changing landscape of precision oncology innovation. We encourage further research outlining the core requirements, infrastructure, and checklists needed to achieve the goal of learning healthcare supporting life-cycle HTA.

Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit.

Background: Multi‐gene panel testing is replacing single‐gene testing for patients with suspected hereditary cancer syndromes. The detection of a hereditary cancer syndrome allows tested individuals to initiate enhanced primary and secondary prevention efforts—where available—with a view to reduce disease burden. Current policy prevents testing programmes from communicating genetic test results with potentially affected family members, yet it is well documented that tested individuals face multiple challenges in initiating such discussions with relatives.Objective: In response to this challenge, we sought patient recommendations about how to improve genetic risk communication to enhance interfamilial discussions about primary and secondary disease prevention.Design: We conducted 25 semi‐structured interviews with individuals who received genetic testing through British Columbia’s Hereditary Cancer Program between 2017 and 2018. Interviews were professionally transcribed and analysed using a constant comparative approach.Results: Participants described difficulty engaging in conversations with relatives who were resistant to receiving genetic risk information, when communicating with younger relatives and where participants reported strained familial relationships. Participants recommended that testing facilities provide a summary of results and implications and that resources be made available to prepare patients for challenging discussions with family members.Discussion: Our study demonstrates that individuals undergoing genetic testing for suspected hereditary cancer syndromes would benefit from additional supportive resources alongside genetic counselling. Providing this on‐going support will enhance the accurate and transparent communication of risk to facilitate the uptake of cascade testing and enhanced prevention strategies.

Background New clinical genomic assays for lymphoid cancers allow for improved disease stratification and prognostication. At present, clinical implementation has been appropriately limited, owing to a paucity of evidence to support clinical and cost effectiveness. Understanding patients’ values for precision oncology under conditions of uncertainty can be used to inform priority-setting decisions. Objectives Our objective was to ascertain patients’ qualitative preferences and attitudes for prognostic-based genomic testing. Methods Individuals who were diagnosed with lymphoid cancer between 2000 and 2018 in British Columbia, Canada, were recruited to participate in one of three focus groups. A maximum variation sampling technique was used to capture a diversity of perspectives. A patient partner was involved in the development of the focus group topic guide and presentation materials. All sessions were audio recorded and analyzed using NVivo qualitative analysis software, version 12. Results In total, 26 participants took part in focus groups held between November 2018 and February 2019. Results illustrate qualitative preference heterogeneity for situations under which individuals would be willing to undergo genomic testing for relapsed lymphoid cancers. Preferences were highly contextualized within personal experiences with disease and treatment protocols. Hypothetical willingness to pay for testing was contingent on invasiveness, the potential for treatment de-escalation, and personal health benefit. Conclusions Patients are supportive and accepting of evidentiary uncertainty up until the point at which they are required to trade-off the potential for improved quality and length of life. Demand for precision medicine is contingent on expectations for benefit alongside an acknowledgment of the opportunity cost required for implementation. The clinical implementation of precision medicine will be required to address evidentiary uncertainty surrounding personal benefit while ensuring equitable access to emerging innovations.