Our vision: ISNS is recognized worldwide for its contributions to the detection of neonatal conditions and the prevention of their adverse outcomes through excellence in neonatal screening.
Our mission: To enhance the quality of testing and medical services through dissemination of information, guidelines and best practices that benefit all family members and their babies by helping to ensure protection of babies from life-quality threatening conditions.
Welcome to the website of the International Society for Neonatal Screening (ISNS).
This society is aiming to advance screening for neonatal and infant sicknesses and disorders, worldwide.
ISNS has around 350 members in more than 70 different countries. Most members have a professional (para)medical background but a few are involved in parents' or patients' organisations.
For more information about ISNS visit the ISNS-Info section (see above).
ISNS welcomes new members who have demonstrated an active interest in neonatal screening.
Why should I join as a member?
As a member you are entitled to see the privileged pages containing specific news items, a monthly neonatal screening literature service and a discount to ISNS-related conferences. Under certain conditions you may apply for travel grants to such conferences. Having access to the on line membership directory you have easier access to other members sharing specific interests.
How do I become a member?
Please read the Membership-info section (see above) and subsequently click on the button "Member subscribe"
Worldwide members per May 1, 2014
350 members in 68 countries.
Countries with at least one member are shown in blue-grey, others in green.
The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the EUCERD Joint Action, with the cooperation and input of the rare disease community including Member States representatives of the EC Expert Group on Rare Diseases, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State levels throughout 2013. The report includes EU Member States’ progress in developing and implementing a national plan/strategy for rare diseases, as recommended by the Council Recommendation on an Action in the Field of Rare Diseases.
By end 2013, the deadline to elaborate national plans/strategies for rare diseases, most EU Member States had submitted a plan/strategy to their national authorities and sixteen countries have adopted a plan/strategy. France and Spain have implemented and assessed their first plan. As a number one priority, most countries plan to identify and design centres of expertise for rare diseases. Many of these plans/strategies, however, have no dedicated budget for their actions, a result of the unfavourable economic context which may hinder the implementation of defined measures. The next challenge for EU Member States will be to effectively implement and assess these plans, which the new Commission Expert Group on Rare Diseases will follow closely.
The year 2013 was not without its highlights. The EUCERD ended its mandate with two new recommendations and one opinion adopted in 2013 (five recommendations and one opinion adopted throughout its mandate). It is hoped that the Committee’s success to meet its goals will be mirrored by the new EC Expert Group on Rare Diseases which replaced the EUCERD in January 2014. Once again, Rare Disease Day was an immense success in 2013, with 73 participating countries. 2013 also saw important developments concerning the 2011 Cross-Border Healthcare Directive, which led to the publication in 2014 of the Commission Delegated and Implementing Decisions concerning European Reference Networks.
The International Rare Disease Research Consortium (IRDiRC) also underwent a year of intense activity with the constitution of its Scientific Committees, the first IRDiRC conference in Dublin in April 2013 and publication of its policies and guidelines, all aimed to reach diagnosis of most rare diseases and 200 new therapies for rare diseases by 2020. Regarding orphan medicinal products, the EMA received 201 applications for Orphan Designation in 2013, the Committee on Orphan Medicinal Products adopted 136 positive opinions and the European Commission granted 136 orphan designations. Seven new orphan medicinal products received EU marketing authorisation in 2013.
For first time readers, the five-part report’s first volume provides an overview of rare disease activities in Europe. Additional individual country reports are available via the National resources link. These country reports provide up-to-date information concerning national activities on rare diseases. For readers familiar with past reports, a synthesis of all 2013 activities is proposed in Part II, Key developments in the field of rare diseases in Europe in 2013. The report covers the following topics: development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services. Readers will find bibliographies, web addresses organised by country and rare disease national plan/strategy document links. Once again, over one hundred contributors supported this report update.
The six volumes of the report are freely accessible via the EUCERD Joint Action website.
(source: Orphanews July 17, 2014)
At the invitation of the European Commission, a Conference on European Reference Networks (ERNs) was held on 23rd June 2014 in Brussels. The conference aimed to discuss the organisation of specialised networks across the EU and examine the next steps of the deployment process, in preparation of the forthcoming call for European Reference Networks in the fourth quarter of 2015.
The establishment of ERNs lays in accordance with Directive 2011/24/EU on patients' rights to cross-border healthcare. In the directive, along with low prevalence complex diseases or conditions, rare diseases are mentioned explicitly as an area in particular need of European clinical entity networks. Regardless of the region, the network must provide highly specialised, affordable, high-quality and cost-effective care.
The idea of linking centres of expertise throughout Europe in an effort to pool expertise and concentrate knowledge and resources is, of course, very attractive. The principles of such an approach were explored in depth by the Rare Disease Task Force and, subsequently, by the EU Committee of Experts on Rare Diseases (EUCERD) who published reports and recommendations.
The Member States and the European Commission began exploring the necessity of such networks in 2003, resulting in the publication of a Commission Delegated Decision and a Commission Implementing Decision on 10th March 2014. While the first document sets out criteria and conditions that ERNs and healthcare providers wishing to join ERNs must fulfil, the second document defines criteria to establish and evaluate ERNs and facilitate the exchange of information and expertise on establishing and evaluating such networks.
The conference gathered 340 participants from 29 countries who represented national public health authorities, as well as experts who coordinated past collaborative networks, financially supported by DG Research or DG Public Health, and patient organisation representatives. Participants expected to gain a clearer understanding of the type of ERN to propose in order to prepare for the first call in 2015.
The future ERNs will consist of networks of healthcare centres expected to collaborate without a specific allocated budget to support their networking activity. These networks will be quite different from the network models funded in the past in the field of rare diseases, which were networks between experts with allocated budgets to reach specific goals in research or public health. To date, no ERN of the new type exists, besides possibly networks in the field of cancer which benefit from funding through sources independent of the EC budget. The selected ERNs will have to support their budget through other sources to be identified.
The new ERNs are intended to network centres of expertise, but such centres will not necessarily be designated ones. Furthermore, while Member State health care authorities will be required to endorse and approve the selection of networks, they will not have given their prior consent at the stage of application for these networks. A further question concerns the scope of ERNs: should they be designed around one disease or around a large group of diseases? The Commission indicated that networks should include all diseases within a therapeutic area which may be difficult to reconcile with the very concept of highly specialised health care.
(source: Orphanews July 17, 2014)
In her article published in Molecular Genetics and Metabolism, Pillers argues the case for systematic genetic screening of newborns and children at-risk of developing or carrying mutations for Duchenne Muscular Dystrophy (DMD). Belgium remains the only country to conduct systematic newborn screening and follow-up testing for DMD. Germany, Wales and Canada have abandoned DMD routine genetic testing and the US have never implemented newborn screening. The US Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) recommends screening for 57 disorders, among which DMD does not feature.
Pillers argues that past criteria for excluding DMD from routine screening , namely high rates of false positives and lack of treatment, no longer apply to the disease. The author highlights that growing progress in DMD genetic diagnosis and potential treatments must be considered. While ten years ago, no medical benefit resulted from newborn screening for DMD, today’s personalised therapeutic approaches show promise in slowing disease progression and, in some cases, reversing the underlying causes of DMD. Two drugs in late stage clinical development, Ataluren (PTC Therapeutics) and Drisapersen (Prosensa) demonstrate efficacy to increase dystrophin production - a key protein in muscle function - in DMD patients affected by several DMD gene mutations. The author therefore urges newborn screening committees to address the value of routine testing, enabling early disease management.
Consult the first page preview
(source: Orphanews July 17, 2014)