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Introduction: Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models are needed; e-health tools represent scalable and evidence-based solution. We aim to evaluate the effectiveness of the Genetics Navigator, an interactive patient-centred digital platform that supports the collection of medical and family history, provision of pregenetic and postgenetic counselling and return of genetic testing results across paediatric and adult settings., Methods and Analysis: We will evaluate the effectiveness of the Genetics Navigator combined with usual care by a genetics clinician (physician or counsellor) to usual care alone in a randomised controlled trial. One hundred and thirty participants (adults patients or parents of paediatric patients) eligible for genetic testing through standard of care will be recruited across Ontario genetics clinics. Participants randomised into the intervention arm will use the Genetics Navigator for pretest and post-test genetic counselling and results disclosure in conjunction with their clinician. Participants randomised into the control arm will receive usual care, that is, clinician-delivered pretest and post-test genetic counselling, and results disclosure. The primary outcome is participant distress 2 weeks after test results disclosure. Secondary outcomes include knowledge, decisional conflict, anxiety, empowerment, quality of life, satisfaction, acceptability, digital health literacy and health resource use. Quantitative data will be analysed using statistical hypothesis tests and regression models. A subset of participants will be interviewed to explore user experience; data will be analysed using interpretive description. A cost-effectiveness analysis will examine the incremental cost of the Navigator compared with usual care per unit reduction in distress or unit improvement in quality of life from public payer and societal perspectives., Ethics and Dissemination: This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals., Trial Registration Number: NCT06455384., Competing Interests: Competing interests: YB and MC are cofounders of Genetics Adviser., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Public policy approaches to funding paediatric medicines in advanced health systems remain understudied. In particular, the ethical and social values dimensions of health technology assessment (HTA) and drug coverage decisions for children have received almost no attention in research or policy., Methods: To elicit and understand the social values that influence decision-making for public funding of paediatric drugs, we undertook a series of in-depth, semi-structured interviews with a stratified purposive sample (n = 22) of stakeholders involved with or affected by drug funding decisions for children at the provincial (Ontario) and national levels in Canada. Constructivist grounded theory methodology guided data collection and thematic analysis., Results: Our study provides empirical evidence about the unique ethical and social values dimensions of HTA for children, and describes a novel social values typology for paediatric drug policy decision-making. Three principal categories of values emerged from stakeholder reflections on HTA and drug policy-making for children: procedural values, structural values, and sociocultural values. Key findings include the importance of attention to the procedural legitimacy of HTA for children, with emphasis on the inclusion of child health voices in processes of technology appraisal and policy uptake; a role for HTA institutions to consider the equity impacts of technologies, both in setting review priorities and in assessing the value of technologies for public coverage; and the potential benefits of a distinct national framework to guide drug policy for children., Conclusion: Current approaches to HTA are not well designed for the realities of child health and illness, nor the societal priorities regarding children that our study identified. This research generates new knowledge to inform decision-making on paediatric drugs by HTA institutions and government payers in Canada and other publicly-funded health systems, through insights into the relevant social values for child drug funding decisions from varied stakeholder groups., (© 2022 The Author(s); Published by Kerman University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)