Eurordis - Rare Disease Europe

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This report presents the European results of the survey ‘Voices on newborn screening: the opinion of people living with a rare disease’, conducted by Rare Barometer within the framework of the European Screen4Care research project. This study gathered the views of more than 6,179 people living with a rare disease and family members worldwide, 5,569 of whom were living in Europe with more than 1,300 distinct rare diseases, hence representing the diversity of the rare disease community.

Respondents’ answers confirm the strong support for newborn screening from the rare disease community. They also show that people living with a rare disease and their family members mostly see newborn screening as a way to alleviate the burden of the diagnosis odyssey and to enable parents to make informed choices for their child living with severe and early onset conditions, regardless of their access to a treatment or intervention.

Jessie Dubief, EURORDIS-Rare Diseases Europe (survey design, statistical analyses, report writing).

With the contributions of Edith Sky Gross, EURORDIS-Rare Diseases Europe (background literature review and survey design) and Fatoumata Faye, EURORDIS-Rare Diseases Europe (survey design and multivariate analyses).

Rare Barometer is a not-for-profit survey initiative run independently by EURORDIS-Rare Diseases Europe. Screen4Care is a 5-years European project funded under the Innovative Medicine Initiative (IMI2 JU No 101034427). The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA. As a Screen4Care partner, EURORDIS received funding from the European Union.