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Background: Patient-centered health care for children with inborn errors of metabolism (IEM) and their families is important and requires an understanding of patient experiences, needs, and priorities. IEM-specific patient groups have emerged as important voices within these rare disease communities and are uniquely positioned to contribute to this understanding. We conducted qualitative interviews with IEM patient group representatives to increase understanding of patient and family experiences, needs, and priorities and inform patient-centered research and care., Methods: We developed a sampling frame of patient groups representing IEM disease communities from Canada, the United States, and United Kingdom. With consent, we interviewed participants to explore their views on experiences, needs, and outcomes that are most important to children with IEM and their families. We analyzed the data using a qualitative descriptive approach to identify key themes and sub-themes., Results: We interviewed 18 organizational representatives between February 28 and September 17, 2014, representing 16 IEMs and/or disease categories. Twelve participants voluntarily self-identified as parents and/or were themselves patients. Three key themes emerged from the coded data: managing the uncertainty associated with raising and caring for a child with a rare disease; challenges associated with the affected child's life transitions, and; the collective struggle for improved outcomes and interventions that rare disease communities navigate., Conclusion: Health care providers can support children with IEM and their families by acknowledging and reducing uncertainty, supporting families through children's life transitions, and contributing to rare disease communities' progress toward improved interventions, experiences, and outcomes.

Background: Responsiveness to citizens as users of technological innovation helps motivate translational research and commercial engagement among academics. Yet, retaining citizen trust and support for research encourages caution in pursuit of commercial science., Objectives: We explore citizen expectations of the specifically academic nature of commercial science [i.e. academic entrepreneurship (AE)] and the influence of conflict of interest concerns, hopes about practical benefits and general beliefs., Design, Setting and Participants: We conducted a cross-sectional national opinion survey of 1002 Canadians online in 2010., Results: Approval of AE was moderate (mean 3.2/5, SD 0.84), but varied by entrepreneurial activity. Concern about conflict of interests (COI) was moderate (mean 2.9/5, SD 0.86) and varied by type of concern. An ordinary least-squares regression showed that expectations of practical benefits informed support for AE, specifically that academic-industry collaboration can better address real-world problems; conflict of interest concerns were insignificant., Conclusions: These findings suggest that citizens support AE for its potential to produce practical benefits, but enthusiasm varies and is reduced for activities that may prioritize private over public interests. Further, support exists despite concern about COI, perhaps due to trust in the academic research context. For user engagement in research priority setting, these findings suggest the need to attend to the commercial nature of translational science. For research policy, they suggest the need for governance arrangements for responsible innovation, which can sustain public trust in academic research, and realize the practical benefits that inform public support for AE., (© 2014 John Wiley & Sons Ltd.)

Objectives: Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population-based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent., Methods: Eight focus groups (FG; n = 60) included education, deliberative discussion and pre-/post-questionnaires. Data were analysed quantitatively and qualitatively., Results: Quantitatively, the majority supported NBS for serious disorders for which treatment is not available (95-98, 82%). A majority endorsed screening without explicit consent (77-88%) for treatable disorders, but 62% supported unpressured choice for screening for untreatable disorders. Qualitatively, participants valued treatment-related benefits for infants and informational benefits for families. Concern for anxiety, stigma and unwanted knowledge depended upon disease context and strength of countervailing benefits., Conclusions: Anticipated benefits of expanded infant screening were prioritized over harms, with information provision perceived as a mechanism for mitigating harms and enabling choice. However, we urge caution around the potential for public enthusiasm to foster unlimited uptake of infant screening technologies., (© 2013 Blackwell Publishing Ltd.)