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.
Study Is First to Evaluate Success of Infant Screening Program for Immune Disorder
By Juliana Bunim on August 19, 2014
Severe combined immunodeficiency (SCID), a potentially life-threatening, but treatable, disorder affecting infants, is twice as common as previously believed, according to a new study that is the first to examine the national impact of this newborn screening test.
The study is the first combined analysis of more than 3 million infants screened for SCID in 10 states and the Navajo Nation. Infants from participating programs born from the start of the first pilot program in January 2008 through July 2013 were included.
In May, 2010, SCID was the 29th condition added to the national recommended uniform panel for newborn screened disorders, and California began screening newborns statewide on August 15, 2010, just four years ago. Currently, 23 states conduct newborn screening for SCID, and the test is performed for nearly two-thirds of infants born across the country.
“Now that infants with SCID are being detected at a very young age, we can tailor protection and early treatment for them while they are still healthy, without having to also treat the complications from infections that result from the disease. This leads to the best outcomes in terms of survival and immune reconstitution,” said senior author Jennifer Puck, MD, a pediatric immunologist at UCSF Benioff Children’s Hospital San Francisco, who developed the dried blood spot test to screen newborns for SCID.
The study appears in the August 19 issue of JAMA.
SCID is a group of rare disorders caused by defects in genes involved in the development and function of T and B lymphocytes, immune cells critical for fighting infections. All babies are protected from infections during the first months of life by antibodies transferred from their mothers. However, as this early protection wanes at around two months of age, babies born with SCID are at risk for life-threatening infections. SCID is fatal, usually within the first year of life, unless treated with immune-restoring treatments such as transplantation of blood-forming cells from the bone marrow of a healthy donor or gene therapy. Over 80 percent of affected infants do not have a family history of the condition to alert their doctors of the condition before serious infections develop.
Co-first authors Antonia Kwan, PhD, a postdoctoral scholar at UCSF and Roshini Abraham, PhD of the Mayo Clinic, gathered data from screening programs and immunologists who followed up with infants in the participating states. “Although each public health program was designed a bit differently, all were successful at detecting SCID, and no cases of SCID were missed,” said Kwan.
The researchers found the screening detected 52 SCID cases, affecting 1 in 58,000 infants. Previous estimates, based on limited data, had suggested that SCID was more rare, affecting only 1 in 100,000 babies. The incidence of SCID was not significantly different in any state program but was higher in the Navajo Nation, where an ancestral trait is known to confer a higher risk of being born with the disease.
The ability to diagnose infants early allows physicians to immediately set up infection precautions to protect the baby, and start treatment while the baby is healthy. Of the 52 babies found in the study to have SCID, 49 received immune-repairing therapies such as transplants of blood-forming stem cells, enzyme replacement therapy and/or gene therapy. Three infants died before treatment was given. Four died after receiving transplants, while the other 45 treated infants survived.
Of those 52 cases of SCID identified by newborn screening, nine were considered “leaky SCID.” These infants had an incomplete mutation in a typical SCID gene, retaining small amounts of immune function that can actually be detrimental because the poorly regulated cells can attack the baby’s own tissues. “We’re finding that leaky SCID is more common than previously thought,” said Puck. “Before screening we’d typically not make the diagnosis for several months or even years, but because of newborn screening they are being treated before they get into any trouble.”
The screening test detects more than a dozen genetic causes of SCID, in addition to other conditions with significantly low T cells. The researchers discovered that population-based testing uncovers a broader range of the underlying genetic causes for SCID than previously known. For example, X-linked SCID, a form of the disorder caused by mutations in a gene on the X chromosome and affecting only males, previously had been thought to account for half of the cases of the condition, but this study found only 19 percent of newborn screened SCID infants had X-linked disease with a corresponding increase in other gene defects. Moreover, the proportion of SCID infants without a known genetic defect (15 percent) was higher than anticipated, indicating that widespread screening presents opportunities to discover previously unknown genes implicated in SCID.
“The whole point of newborn screening is to identify conditions that are treatable, and for which early treatment saves lives,” said Puck. “The excellent outcomes of SCID infants across the country reported in this study prove that SCID is such a condition.”
Morton Cowan, MD, chief, Division of Allergy, Immunology and Blood and Marrow Transplantation at UCSF Benioff Children’s Hospital San Francisco also was a co-author.
A complete list of the 80 co-authors is available in the paper.
The study was supported by grants from the National Institutes of Health, Jeffrey Modell Foundation and PerkinElmer Genetics, among grants to individual authors and screening programs.
UCSF Benioff Children’s Hospital San Francisco creates an environment where children and their families find compassionate care at the forefront of scientific discovery, with more than 150 experts in 50 medical specialties serving patients throughout Northern California and beyond. The hospital admits about 5,000 children each year, including 2,000 babies born in the hospital.
UCSF is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. It includes top-ranked graduate schools of dentistry, medicine, nursing and pharmacy, a graduate division with nationally renowned programs in basic, biomedical, translational and population sciences, as well as a preeminent biomedical research enterprise and two top-ranked hospitals, UCSF Medical Center and UCSF Benioff Children’s Hospital San Francisco.
(source: Jelili Ojodu, APHL)
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)