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Review of practices on New born Screening across the EU: final report

18 January 2011

Newborn screening (NBS) is the process of testing newborn babies to detect a pre disease abnormality or early disease where early intervention is able to improve health outcomes.

Screening was first introduced in the late 1960s for Phenylketonuria and Congenital hypothyroidism followed in the 1970s. The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that affect blood levels of organic acids. Additional tests have been added to many screening programs over the last two decades. Newborn screening has been adopted by most countries around the world, though the lists of screened diseases vary widely from one country to another.

There is a large consensus on criteria to be considered in determining whether to screen for disorders:

(i) the disease can be missed clinically at birth;

(i) its frequency in the population is high enough;

(ii) there is a delay in diagnosis which induces irreversible damages to the baby;

(iii) there is a simple and reasonably reliable test;

(iv) there is a treatment or intervention that makes a difference if the disease is detected early;

(v) the cost of case finding should be economically balanced in relation to possible expenditure on medical care as a whole.

Despite this consensus, more and more diseases are screened at birth, which do not fulfil all these criteria, for various reasons of which one is the availability of the technology to perform the test. Ethical concerns are raised by issues such as screening for a condition with no effective treatment, unintended findings during testing and detection of the carrier status (person being carrier of mutated gene and being at risk of having affected offspring).

There is a need for identifying what are the current practices in the Member States, for what reasons the diseases to be screened are selected, how the decisions to expand the list of diseases are taken, what are the technologies used and what organisation is in place to ensure comprehensive screening of all newborns and to evaluate the performance of the programmes. The aim of this tender is the review of the current situation on newborn screening in the EU.

The expected outcomes of this review are:

  • An extensive report on the practices of NBS for rare disorders implemented in all the EU Member States including number of centres, estimation of the number of infants screened and the number of disorders included in the NBS as well as reasons for the selection of these disorders;
  • The establishment of 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 EU MS practices;
  • Developing a decision-making matrix that could be used by EU Member States programs to systematically expand (or contract) screening mandates.

Please find here the four files about these tenders: