Patient preferences in genetic newborn screening for rare diseases: study protocol

Area of Science:

• Genetics
• Public Health
• Bioethics

Background:

• Rare diseases (RDs) affect millions, yet research and expertise, particularly in genetic newborn screening (gNBS), are limited.
• Patient and public perspectives are increasingly recognized as vital for shared decision-making in gNBS.
• The Screen4Care project aims to shorten the diagnostic journey for RDs using gNBS and digital technologies.

Purpose of the Study:

• To assess the perspectives, attitudes, and preferences of expecting parents in Italy and Germany regarding gNBS for RDs.
• To gather insights from both expecting parents seeking genetic consultation and those from the general population.
• To inform the development and implementation of gNBS programs by incorporating user needs.

Main Methods:

• A mixed-methods approach combining qualitative (focus groups, interviews, nominal group technique) and quantitative (survey, discrete choice experiment) research.
• Recruitment of 2084 participants across Germany and Italy.
• Analysis using thematic qualitative and logit-based quantitative methods.

Main Results:

• Qualitative data from focus groups and interviews will identify key attributes influencing parental decisions regarding gNBS.
• Quantitative data from surveys and DCE will measure the relative importance of these attributes and preferences for gNBS.
• Results will provide a nuanced understanding of parental acceptance and concerns related to gNBS for RDs.

Conclusions:

• Understanding parental perspectives is essential for the successful and ethical implementation of gNBS for rare diseases.
• The findings will contribute to patient-centered approaches in rare disease diagnosis and management.
• This research supports the broader goals of the Screen4Care initiative in improving diagnostic timelines for RDs.