Shaping future policies and practices of NBS in Europe

Newborn screening (NBS) is the process of testing newborn babies for treatable, genetic, endocrine, metabolic and hematological diseases. This is a very important topic in the Council Recommendation on Rare Diseases and for National Plans. The workshop was perfectly timed, coming as it did during the finalisation of the EU Tender on Newborn Screening for rare diseases, led by the Istituto Superiore di Sanita. The day offered a clear and extensive picture of neonatal testing across Europe: its history, perspective, the questions and challenges it raises, future policies and how NBS can be part of a national plan for rare diseases.

“Some of our participants had misconceptions about NBS, confusing it with gene testing or misinterpreting its purpose, for example” says Fabrizia Bignami, EURORDIS Therapeutic Development Director who moderated the workshop with Luciano Vittozzi from the Istituto Superiore di Sanita (ISS). So the day started appropriately with a PlayDecide session, helping everyone to understand the basics: what is NBS, when and how it is carried out, examples and case studies. Nine groups played in four languages (English, French, Spanish, Dutch) and Chrystalla Thoma from Thalassaemia International Federation (TIF) felt that the participants learnt a lot through the debate session, whilst an industry representative, thought that “it was an ingenious way to gather input on very complicated subjects and allowed all stakeholders to dive deeply into all issues and come up with consensus-based solutions.”

Antoni Montserrat, Policy Officer for rare diseases at the DG Sanco Health information unit, gave a detailed update on the EU Tender on Newborn Screening for rare disorders, begun in 2009 and being finalised this year. All the aspects relevant to the implementation of a public health action on newborn screening have been studied and evaluated. The various outcomes are:

• a report on the practices of NBS for rare disorders (consisting of the main features of existing NBS practices which are useful to the development of national policies on NBS in the EU);
• an expert opinion document, including a decision-making matrix, on the development of European policies in the field of NBS for rare diseases;
• the creation of a EU Network of Experts on NBS;
• and the organisation of a European Experts Consensus Workshop on NBS.

The final report from the European Network is expected to be available in September 2011.

Eugénie Dekkers from the Centre for Population Screening/RIVM in Netherlands presented a very interesting overview of the organisation and practice of neonatal screening in Europe. Screening for phenylketonuria was introduced in the late 1960s and for primary congenital hypothyroidism in the 70s: both screenings were rapidly adopted across Europe. The development of new techniques in the early 1990s led to the expansion of potentially detectable congenital metabolic disorders. Additional tests have been added to many countries’ screening programmes, though the list of screened diseases varies widely from country to country. (Watch the testimony of Carmen Cordea, a mother of a PKU child and read her story)

Peter Burgard from the University of Heidelberg in Germany stressed the importance of communication between the laboratory carrying out the screening and parents. “NBS is an interdisciplinary, multilevel, scientific and clinical enterprise that includes patients and families. Our most important goal is to establish and maintain a shared perspective by all institutions and professionals on the condition, diagnostic decisions, treatment and care.” He also discussed the results of a survey on European NBS programs, in particular the interaction between NBS laboratories, confirmatory diagnosis services and treatment units.

The day delivered a wide consultation, with speakers’ presentations, the views and opinions of patients groups present, the different comments and discussions that concluded the workshop. “The speakers at the workshop were experts in NBS and they all acknowledged the importance of involving patients in the decision making process for including additional NBS practices in the different countries,” says Fabrizia Bignami. “All agree that NBS can be useful and effective for a minority of rare diseases but that it cannot answer the needs of all diseases and we cannot expect it to be systematic. Patients, associations and experts believe that there is a need for specific training of neonatologists in order to enable them to investigate unusual symptoms in newborns, and to direct families towards the most appropriate diagnostic testing and rare disease centres of expertise,” concludes Fabrizia Bignami.

This article was first published in the July 2011 issue of the EURORDIS newsletter
Author: Nathacha Appanah
Photo credits: © EURORDIS