Voices on newborn screening: the opinion of people living with a rare disease
Report | Rare Barometer | Published: May 2024
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.
From the point of view of the rare disease community, newborn screening programmes should allow parents to prepare their child to live life to its full potential, regardless of the existence of treatments or interventions for the rare disease they are living with. This point of view is aligned with the results of several surveys on the opinion of the public and prospective parents on newborn screening.
Other resources:
- Survey results in 24 languages: eurordis.org/publications/rb-nbs-survey-results/
- EURORDIS’ strategy and resources on diagnosis: eurordis.org/our-priorities/diagnosis/
- EURORDIS’ key principles for newborn screening: eurordis.org/publications/key-principles-for-newborn-screening/
Cite this report: Dubief J., Gross E.S., Faye F., Voices on newborn screening: the opinion of people living with a rare disease. A Rare Barometer survey with the Screen4Care project. EURORDIS-Rare Diseases Europe. May 2024.