ISNS position concerning recent statements by EURORDIS and IFCC on newborn screening policies

The continued development of Newborn Screening within Europe and in the wider International context.

It is now more than 50 years since whole population screening for phenylketonuria began in the US and Europe.   This has been widely regarded as an exceptional advance in public health policy offering significant health benefits for the children that are detected early and treated promptly.   In consequence, many of us share the vision of extending the availability of newborn screening for a growing range of conditions to those children who do not already benefit from this life changing intervention and there are currently a number of initiatives working in this area:

  • In January 2021 EURORDIS published a position paper ‘Key principles for Newborn Screening’ ( The document seeks to emphasise the value and importance of newborn screening as a means of securing the early detection of rare diseases and by doing so significantly improving the outcome of the patients affected.   It calls upon member states within Europe to adopt the principles outlined in that document.
  • ISNS, IPOPI, ESID and members of the European Reference Networks are working together as part of the initiative ‘Screen4Rare’ ( at parliamentary level and with the European Commission to provide access to the good quality information and advice which is key to effective decision making and policy formation at a national level. Screen4Rare respects the autonomy of member states and is seeking to work with policy makers at a national and EU level to develop and support newborn screening throughout Europe.
  • In a broader International context a recently formed partnership between ISNS and the International Federation of Clinical Chemistry (IFCC) is seeking to extend the benefits of well organised screening programmes, where this is appropriate, into low and middle income country settings. This initiative, described in the rather grand title: ‘A Global Taskforce’ ( is also planning collaborations with other international groups working in this area.    The aim is to help initiate and support national activity to provide ethically based, well organised and sustainable newborn screening programmes managed and run within a local context.

It is important, as ISNS works to support newborn screening, that the importance of national autonomy aligned to the best interests of parents and patients is emphasised throughout and that the value of the long established Wilson and Jungner criteria to guide screening into areas where treatment is both possible and available is reasserted.

Prof Jim Bonham, ISNS President
February 2021