Evaluation of population newborn screening practices for rare disorders in Member States of the European Union (WC2009-096)
Background
Starting date: 01/01/2010 Newborn screening (NBS) is the process of testing newborn babies for treatable genetic,endocrinologic, metabolic and haematologic diseases. Screening for phenylketonuria was
introduced in the late 1960s and congenital hypothyroidism 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.
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 or screening revealing the status of heterozygote.
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.