Table 1.

The key points identified in stakeholders’ discussion. Abbreviations: NBS—Newborn screening; ERN—European Reference Networks.

The Key Points Identified in Stakeholders’ Discussion.
(1)To celebrate and promote newborn screening (NBS) as a life-changing intervention for children with rare disease, helping to ensure a good clinical outcome in serious or life-threatening conditions.
(2)The considerable unwarranted variation in practice, both in the number of conditions screened at birth, ranging from 2 to 35 per country, and in the way in which NBS is planned and delivered.
(3)The use of second-tier testing t avoid false-positive results that may unnecessarily alarm families.
(4)The need for clear case definitions for disorders allowing comparison and improvement of the effectiveness of NBS programmes in order to optimize treatment strategies.
(5)The importance of ensuring that the outcome of NBS programmes is assessed and used to guide current and future practice: a core role for the European Reference Networks (ERNs).
(6)The vital importance of managing national NBS as a programme spanning community, laboratory and clinical activity to ensure that outcomes are improved and good clinical practice achieved. (7)The desire to identify and monitor key performance indicators to help assess the operational effectiveness and quality
(8)The need to share information between member states as NBS programmes grow and develop.
(9)The opportunities and ethical challenges for member states posed by the increased availability of genomic testing and treatment when considered in the context of NBS for Rare Diseases including its potential to significantly increase the range and scope of conditions identified.