Full title: Social preferences on neonatal screening for rare diseases in the Canary Islands: a discrete choice experiment
Funded by: Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC)
Granted funding: €14,000.00
Duration: 2 years (2026–2027)
Principal investigator: Cristina Valcárcel Nazco
Associate researchers: Laura Vallejo Torres, Lidia García Pérez, Aránzazu Hernández Yumar, Andrea Duarte Díaz, Oliver Rivero Arias
Background:
Neonatal screening allows for the early detection of rare diseases that, without early diagnosis and treatment, can lead to severe consequences and a high family and social burden. In the Canary Islands, the screening programme includes a limited number of conditions, but there is a growing debate about its expansion. However, there is no empirical evidence on population preferences regarding these programmes in Spain, and particularly in the Canary Islands.
Objective:
This project aims to analyse the preferences of the Canary Islands population regarding neonatal screening for rare diseases using a discrete choice experiment (DCE). This methodology, well established in health economics, allows the quantification of the attributes that citizens value most and the estimation of the trade-offs they are willing to make between criteria such as disease severity, diagnostic certainty, availability of effective treatments, impact on family life, or additional cost to the healthcare system.
Method:
The study will be conducted over 24 months and will consist of six phases. In the first phase, attributes and levels will be identified through a systematic literature review and an online Delphi process with participation of clinical experts, healthcare managers, and representatives of patient associations. This mixed approach will ensure clinical relevance, content validity, and inclusion of the perspective of affected families. In the second phase, the online questionnaire will be designed, including a choice task block (between 8 and 10 per participant), and will be validated through cognitive testing with a small group, followed by a pilot with 180 people to assess comprehension, consistency, and participant cognitive burden. In the third phase, the main survey will be implemented, targeting a representative sample of 720 residents of the Canary Islands, stratified by province, sex, and age groups. Including both pilot and main sample, the project will reach a total of 900 participants, providing the statistical power needed to estimate main effects, explore heterogeneity in preferences, and perform subgroup analyses by sociodemographic characteristics.
The subsequent phases will be devoted to statistical and econometric analysis of the data. Conditional logit models will be applied to estimate the relative importance of attributes, followed by mixed models (random parameters logit) and latent class analysis to identify subgroups with different preference patterns.
Marginal rates of substitution and implicit willingness-to-pay values will also be calculated, allowing interpretation of trade-offs between attributes in a way that is useful for decision-making.
The relevance of this study lies in its ability to generate unprecedented evidence in Spain on social preferences regarding neonatal screening for rare diseases. The results will be directly transferred to the Canary Islands Health Service and to the Spanish Network of Health Technology Assessment Agencies and Services of the National Health System (RedETS), contributing to ensuring that decisions on expanding neonatal screening are based not only on clinical and economic criteria, but also on citizens’ values and priorities. Furthermore, the findings will strengthen equity and transparency in health technology assessment, providing social legitimacy and facilitating the sustainability of decisions in a context of limited resources.
Contact person: Cristina Valcárcel Nazco (cristina.valcarcelnazco@sescs.es)