Identification of translational dermatology research priorities in the U.K.: results of an electronic Delphi exercise.

BACKGROUND: Translational research is the direct application of basic and applied research to patient care. It is estimated that there are at least 2000 different skin diseases; thus, there are considerable challenges in seeking to undertake research on each of these disorders. OBJECTIVES: This electronic Delphi (e-Delphi) exercise was conducted in order to generate a list of translational dermatology research questions that are regarded as a priority for further investigations. METHODS: During the first phase of the e-Delphi exercise, 228 research questions were generated by an expert panel that included clinical academic dermatologists, clinical dermatologists, nonclinical scientists, dermatology trainees and representatives from patient support groups. RESULTS: Following completion of the second and third phases, 40 questions on inflammatory skin disease, 20 questions on structural skin disorders/genodermatoses, 37 questions on skin cancer and eight miscellaneous questions were designated as priority translational dermatology research questions (PRQs). In addition to PRQs on a variety of disease areas (including multiple PRQs on psoriasis, eczema, squamous cell carcinoma and melanoma), there were a number of cross-cutting themes that identified a need to investigate mechanisms/pathogenesis of disease and the necessity to improve treatments for patients with skin disease. CONCLUSIONS: It is predicted that this list of PRQs will help to provide a strategic direction for translational dermatology research in the U.K. and that addressing this list of questions will ultimately provide clinical benefit for substantial numbers of patients with skin disorders.

Public attitudes towards genomic risk profiling as a component of routine population screening.

Including low penetrance genomic variants in population-based screening might enable personalization of screening intensity and follow up. The application of genomics in this way requires formal evaluation. Even if clinically beneficial, uptake would still depend on the attitudes of target populations. We developed a deliberative workshop on two hypothetical applications (in colorectal cancer and newborn screening) in which we applied stepped, neutrally-framed, information sets. Data were collected using nonparticipant observation, free-text comments by individual participants, and a structured survey. Qualitative data were transcribed and analyzed using thematic content analysis. Eight workshops were conducted with 170 individuals (120 colorectal cancer screening and 50 newborn screening for type 1 diabetes). The use of information sets promoted informed deliberation. In both contexts, attitudes appeared to be heavily informed by assessments of the likely validity of the test results and its personal and health care utility. Perceived benefits included the potential for early intervention, prevention, and closer monitoring while concerns related to costs, education needs regarding the probabilistic nature of risk, the potential for worry, and control of access to personal genomic information. Differences between the colorectal cancer and newborn screening groups appeared to reflect different assessments of potential personal utility, particularly regarding prevention.

Parents' evaluation of the IDEFICS intervention: an analysis focussing on socio-economic factors, child's weight status and intervention exposure.

INTRODUCTION: From April 2008 to August 2010 the Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS (IDEFICS) intervention aimed to encourage healthier diets, higher physical activity levels and lower stress levels among European children and their families. While the intervention was intended to improve children's health, we also wished to assess whether there were unwelcome aspects or negative side-effects. Therefore all parents of children who participated in the IDEFICS intervention were asked for their views on different aspects of the intervention. METHODS: A total of 10,016 parents of children who participated in the IDEFICS survey and who were involved in the intervention were invited to complete a questionnaire on positive and negative impacts of the intervention. Responses to each of the statements were coded on a four point Likert-type scale. Demographic data were collected as part of the baseline (T0 ) and first follow-up (T1 ) surveys; intervention exposure data was also collected in the T1 follow-up survey. Anthropometric data was collected in the same surveys, and child's weight status was assessed according to Cole and Lobstein. After initial review of the univariate statistics multilevel logistic regression was conducted to analyse the influence of socio-economic factors, child's weight status and intervention exposure on parental responses. RESULTS: In total 4,997 responses were received. Approval rates were high, and few parents reported negative effects. Parents who reported higher levels of exposure to the intervention were more likely to approve of it and were also no more likely to notice negative aspects. Less-educated and lower income parents were more likely to report that the intervention would make a lasting positive difference, but also more likely to report that the intervention had had negative effects. Parents of overweight and obese children were more likely to report negative effects - above all, that 'the intervention had made their child feel as if he/she was "fat" or "overweight." ' CONCLUSION: While the results represent a broad endorsement of the IDEFICS intervention, they also suggest the importance of vigilance concerning the psychological effects of obesity interventions on overweight and obese children.

Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol.

INTRODUCTION: Newborn bloodspot screening (NBS) involves testing a small sample of blood taken from the heel of the newborn for a number of serious and life-limiting conditions. In Canada, newborn screening programmes fall under provincial and territorial jurisdiction with no federal coordination. To date, we know very little about the underlying beliefs around different consent practices or how terminology is interpreted by different individuals. Differences in attitudes may have important healthcare consequences. This study will provide empirical data comparing stakeholder opinions on their understanding of consent-related terminology, the perceived applicability of different consent approaches to newborn screening, and the requirements of these different approaches. METHODS AND ANALYSIS: Parents, healthcare professionals and policymakers will be recruited in the provinces of Ontario and Newfoundland and Labrador. Parents will be identified through records held by each provincial screening programme. Healthcare professionals will be purposively sampled on the basis of engagement with newborn screening. Within each province we will identify policymakers who have policy analysis or advisory responsibilities relating to NBS. Data collection will be by qualitative interviews. We will conduct 20 interviews with parents of young children, 10 interviews with key healthcare professionals across the range of appropriate specialties and 10 with policymakers at each site (40 per site, total, N=80). The examination of the transcripts will follow a thematic analysis approach. Recruitment started in June 2014 and is expected to be complete by June 2015. ETHICS AND DISSEMINATION: This study received ethics approval from the Ottawa Health Science Network Research Ethics Board, the Children's Hospital of Eastern Ontario Research Ethics Board (both Ontario), and the Health Research Ethics Authority (Newfoundland and Labrador). RESULTS: These will be reported in peer-reviewed publications and conference presentations. The results will have specific application to the development of parent education materials for newborn screening.