Rare diseases

Evaluating population newborn screening practices for rare diseases

The EU has recommended that Member States should develop European guidelines on diagnostic tests or population screening, while respecting national decisions and competences (Council Recommendation on an action in the field of rare diseases (2009/C 151/02 ) ).

Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically. Screening programs are often run by national or regional governing bodies with the goal of screening all infants born in the jurisdiction. The practice of newborn screening varies from Member State to Member State and there is no unified systematic approach at the European Union level.

Following the Council Recommendation, the European Commission launched a call for Tender on Evaluation of population newborn screening practices for rare disorders in Member States of the European Union in July 2009, in order to:

  • report on the practices of neonatal screening (NBS) for rare disorders implemented in all the Member States including number of centres, estimate the number of infants screened and the number of disorders included in the NBS as well as reasons for the selection of these disorders
  • identify types of medical management and follow-up implemented in the Member States
  • establish a network of experts analysing the information and formulating a final opinion containing recommendations on best practices and recommending a core panel of NBS conditions that could be included in all MS practices
  • develop a decision-making matrix that could be used by Member States’ programs to systematically expand (or contract) screening mandates
  • report on the practices on NBS, including medical management and follow-up, will be provided. A network of experts (EUNENBS: European Network of Experts on Newborn Screening) will be established.

Please find here the four files about these tenders: