Wendy J. Ungar

Neurodevelopmental disorders are lifelong conditions with onset in early childhood that impair cognitive, social, behavioural and physical functioning. Their consequences extend beyond healthcare, shaping education, social and community services, and family life. Economic evaluations can guide payers by quantifying the value for money of interventions, but standard methods require adaptation for this context. This paper offers practical guidance for pharmacoeconomic evaluations of interventions for children with neurodevelopmental disorders, synthesising methodological literature and applied experience to articulate core challenges, recommend solutions and highlight emerging opportunities. Evaluations must address five inter-related issues: defining and justifying an analytic perspective that captures multi-sectoral costs and benefits; identifying and valuing direct, indirect and intangible costs across health, education and social domains; selecting outcomes sensitive to changes in child functioning and health-related quality of life that can be economically valued; incorporating spillover effects for caregivers and families; and modelling long-term developmental trajectories amid data scarcity and uncertainty. We recommend adopting a societal perspective; applying comprehensive context-appropriate costing; combining generic and condition-specific outcome measures; explicitly including caregiver and family impacts; integrating equity analyses; and using long time horizons supported by robust modelling such as microsimulation or agent-based approaches. Promising directions include capability-based frameworks and digital biomarkers to enable real-world measurement of function and quality of life. Tailored pharmacoeconomic methods are essential for credible policy-relevant evaluations of neurodevelopmental disorder interventions. Transparent reporting and alignment with international standards will improve comparability, support uptake by decision makers, and promote equitable resource allocation for children and families affected by neurodevelopmental disorders.

Background: Infants discharged home from a neonatal intensive care unit (NICU) often have multiple ongoing medical needs. The Coached, Coordinated, Enhanced Neonatal Transition (CCENT) program provides nurse navigator-led support for caregivers of high-risk infants through their first year after transitioning from the NICU to home. The objective was to compare health care resource use and costs between CCENT and standard care control groups post-discharge. Methods: Resource use and costs were collected at 4 months and 12 months post-discharge from families enrolled in the CCENT randomized controlled trial across Canada. Infant healthcare utilization and parent mental health service use and costs were analyzed from public health care system and family payer perspectives and were compared statistically between groups and within groups over time. Results: A total of 97 and 105 infants were randomized to the intervention and control groups, respectively. Significant reductions in use of medications and equipment were observed over time in both groups while use of allied health professionals decreased and emergency department (ED) visits increased for CCENT. Annual total healthcare costs per child to the public payer were $4135 (95% CI $2825, $5709) for the CCENT group and $4578 (95% CI $2246, $8356) for controls. The cost of delivering CCENT was $669 per family (SD $362). The average annual out-of-pocket cost per family was $724 (95% CI $467, $1024) for CCENT and $728 (95% CI $479, $1007) for controls. Conclusions: This study indicates the importance of considering patterns of healthcare utilization, program costs and costs to families when implementing NICU to home care interventions. Excluding the cost of a nurse navigator, costs to the healthcare system were not increased in the intervention group. Such a program may help families access appropriate care.

Genomic sequencing (GS) for patients and families with rare disease creates the opportunity for precise diagnosis as well as the option to learn about medically actionable secondary findings (SF). Debate persists internationally on how to manage the analysis and disclosure of SF, especially in settings where service delivery models for GS are still in development and outcomes are preliminary. This study aimed to understand parents' decision to opt‐out of learning about their child's SF for adult‐onset conditions and whether an SF identified in a child was inherited. All children received GS as part of their diagnostic work‐up for a rare disease. Sixteen semistructured interviews were conducted with parents. Guided by a qualitative approach, interviews were analyzed with inductive content analysis. Participants reported that the timing of decision‐making, competing priorities, anticipated adverse psychological outcomes, and health‐related beliefs and worldviews contributed to their decision to opt‐out of receiving SF. An emphasis was placed on a preference for flexible SF delivery models to aid in reducing the burden of SF decision‐making at the time of indication‐based testing. Genetic service delivery models that separate the timing of decisions about indication‐based test results and SF may address patient preferences. Findings from this work may inform clinical practice and policy in jurisdictions where SF delivery models are still being developed and optimized.

Health Technology Assessment (HTA) agencies vary in the approach used and extent to which patients’ values and preferences are incorporated into the evidence assembly and review processes to inform...

Introduction: Genomic testing allows for the identification of disease-causing genetic variants and may also reveal secondary findings (SF) unrelated to the reason for testing. As the list of medically actionable genes continues to grow, it is important to understand the impact of these findings on clinical care and patient experience, particularly in paediatric settings. This work will generate novel evidence on the clinical, patient, family and system impacts of medically actionable SF generated from genomic testing. Methods and analysis: This mixed-methods, prospective, observational study will describe the impacts of SF on clinical care and the patient and family experience. Participants include probands and/or parents of probands who receive SF (ie, cases), clinicians involved in managing their care and controls matched 2:1 to cases based on age group, phenotype and primary genomic testing result. We aim to enrol 50 cases and 100 controls among those who receive genomic testing through Genome-wide Sequencing Ontario or other local sequencing initiatives in Ontario, Canada. Clinicians involved in follow-up care will complete questionnaires related to risk assessment, medical recommendations and clinical utility of SF post-result disclosure and one year later. Patient questionnaires will record health service use and psychological outcomes (ie, personal utility, empowerment) every 6 months for 2 years. These data will be compared between cases and controls using parametric tests. Cases will be invited to a qualitative interview to learn about their experiences. Data will be analysed using quantitative and qualitative techniques, triangulating datasets to enhance the validity and depth of the findings. Ethics and dissemination: This study is approved by the Clinical Trials Ontario (CTO) Research Ethics Review System (REB# CTO 3655). We plan to present our results to academic, patient, clinician and decision-maker audiences through articles and presentations at provincial, national and international meetings.

Pre-school children with or at risk of developmental disabilities have diverse care needs in this critical period for neurodevelopment. Complexities in ser