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.
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
Heidi Carmen Howard, Bartha Maria Knoppers, Martina C Cornel, Ellen Wright Clayton, Karine Sénécal and Pascal Borry
endorsed by the European Society of Human Genetics; the P3G International Paediatric Platform; the Human Genome Organisation; and the PHG Foundation
The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more
services based on these and other high-throughput technologies will become available to patients and the wider population.
Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.
European Journal of Human Genetics advance online publication, 28 January 2015; doi:10.1038/ejhg.2014.289
With the new year comes new beginnings, resolutions and wishes for the future, but this moment also offers the opportunity to review the previous year’s achievements. 2014 was both a busy and fruitful year for the rare disease community, punctuated with a number of major events bringing together old friends and new from across stakeholder groups and from the four corners of the globe, the 2014 European Conference on Rare Diseases in Berlin and Orphan Products and the International Rare Disease Research Consortium’s second conference in Shenzhen.
2014 saw the first meeting of the European Commission Expert Group on Rare Diseases, which replaced the European Union Committee of Experts on Rare Diseases. This multi-stakeholder group, has a mandate to aid the Commission with the development and implementation of rare disease policies. The Commission outlined its future priorities for the field of rare diseases in its implementation report, published in Autumn 2014, which took stock of the achievements following the implementation of the Commission Communication : Rare Diseases Europe’s Challenge (2008) and the Council Recommendation on an Action in the field of rare diseases (2009). In particular, the report highlighted the adoption of 16 national plans/strategies in Member States by the December 2013 deadline defined by the Recommendation: 4 additional plans were adopted in 2014 making the total 20 to date. The report concluded with a list of actions envisaged in the future year by the European Commission, which included the intention to maintain the EU’s coordinative role in the development of European policy on rare diseases and to support national activities, including plans and strategies for rare diseases. In addition, the Commission voiced their intent to continue support to the IRDiRC and initiatives developed under its umbrella and to play a role in collaborating with important international stakeholders in the field of rare diseases. Support to ensure proper codification of rare diseases was also cited as a priority as was support to increasing public awareness of rare diseases and patient empowerment. Finally, the Commission highlighted that much work would be carried out concerning the implementation of the Directive on cross-border healthcare including support to the development of tools to faciltate the cooperation and interoperability of European Reference Networks for rare diseases.
The Expert Group on Rare Diseases will provide support to the European Commission in the implementation of these goals. The Expert Group met three times in 2014 and adopted in its last meeting of the year a first recommendation on improving the codification of rare diseases which marks an important step forward in ensuring that rare diseases are made visible in health information systems through the use of Orphacodes when no appropriate specific code exists in current coding systems. Next steps to ensuring a coherant and integrated strategy in the field of coding of rare diseases will be pursued by the future Joint Action for Rare Diseases to start in 2015 which will support rare disease activities at European level, including Orphanet and the activities of the Expert Group.
The Expert Group was supported in its endeavours in 2014 by the EUCERD Joint Action through which a range of expert workshops were organised on the themes of quality of care for rare diseases and centres of expertise, European Reference Networks, national plans/strategies for rare diseases, trans-border genetic testing, evaluation of rare disease health projects and Orphacodes. Five national conferences were co-organised by Eurordis and National Alliances of rare disease patient organisations throughout Europe in the scope of the Joint Action with the aim of promoting the elaboration and implementation of national plans/strategies for rare diseases (consult the available conference reports).
At the European level, 2014 also saw the launch of the a much anticipated ontology of rare disases which represents an all-inclusive and singular resource point for the ontological analysis of rare diseases. The Orphanet Rare Disease Ontology (ORDO), jointly developed by Orphanet and the European Bioinformatics Institute (EBI), provides a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other pertinent features, in a language directly understandable by computers. ORDO is available to all on the sites of BioPortal, EBI as well as Orphadata.
2014 was a year rich in rare disease events, kicked off by the highly successful international Rare Disease Day on 28th February 2014. Last year marked a record high of 84 participating countries and 410 events around the world: 9 countries participated for the first time (Cuba, Ecuador, Egypt, Guinea, Jordan, Kazakhstan, Kenya, Oman, and Paraguay). EURORDIS, organiser of the day, held a policy event in Brussels to mark the day. The 7th European Conference on Rare Diseases and Orphan Products was held in Berlin from 8-10 May bringing together 750 participants from over 40 countries, providing an excellent networking opportunity and the time to share experiences and explore new horizons. Taking stock of achievements and future endeavours to improve the quality of life of people with rare diseases, the conference report, presentations, and abstracts from the conference cover a range of interesting themes, ranging from healthcare services to research, from orphan products to approaches beyond medical care.
Another major event was the much awaited 2nd International Rare Diseases Research Consortium (IRDiRC) conference which took place in Shenzhen, China on 7-9 November 2014. Organised by IRDiRC in partnership with BGI, the conference brought together over 600 rare disease stakeholders from all over the world to discuss and share experiences and expertise. The main theme of the conference was collaboration, placing emphasis on contributing towards expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support. IRDIRC promises to contribute to the development of 200 therapies for rare disease and means to diagnose all of them by 2020, which can only be possible through the collaborative efforts of academics, researchers, clinicians, industry leaders, policy makers and patient advocates, internationally.
In terms of support to the IRDiRC’s aims, the European Commission started to launch previously announced calls for proposals, including the continuation of the activities of the E-Rare ERA-Net on rare diseases which funds joint transnational calls between European funding bodies: this coordination activity was assured for the period of 2014-2019.
In the field of orphan medicinal products, 2014 saw a record number of orphan designations and market authorisation approvals in Europe and the USA. At European level, the European Medicines Agency’s Committee on Orphan Medicinal Products (COMP) granted 196 positive opinions for orphan drug designation out of 259 examined submissions, and the European Commission granted 160 designations. Twelve products were granted marketing authorisation at European level in 2014 (consult the COMP’s meeting report of December 2014).
In the US, the Food and Drug Administration (FDA) reached a milestone with a record 15 approvals for rare diseases, with the previous high being 13 drugs in 2012. Additionally, out of the 9 drugs that received breakthrough status by the US FDA, 5 belonged to the orphan drug category. Although this provides an excellent incentive to developers of orphan drugs, they often carried with them a price tag that remains unaffordable by many rare disease patients.
What are the hopes of the ever advancing rare disease community at the start of this new year? As at the end of each year, there is cause for both pessimism and optimism. The rare disease field remains politically dynamic, but the biggest challenge for the year ahead will be the successful implementation of national plans and strategies for rare diseases in the current economic context. Limited resources, both at European and national level, will mean that priorities will have to be established and creative solutions will have to be imagined to ensure that the goals proposed by these initiatives can be reached. Scientific discoveries continue to accelerate in the field of rare diseases, bringing with them a wealth of new knowledge to be applied in order to improve the day to day lives of those living with a rare disease.
(source: Orphanet 17-01-2015)
As of January 1, 2015, ISNS starts a new open access journal, the Internatonal Journal of Neonatal Screening (IJNS). A contract was signed with MDPI, a publisher in Basel, Switzerland.
Anyone involved in neonatal screening is invited to submit papers whether they are of fundamental scientific or purely technical nature.
You can find all you need to know at the following website: