ISNS International Society For Neonatal Screening




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 !

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"


ISNS publishes its own journal, please see


Worldwide members per November 1, 2015

375 members in 73 countries.
Countries with at least one member are shown in blue-grey, others in green.




  • News
  • Events

The current state of newborn bloodspot screening in Australia and the lessons it needs to learn from international programmes to upgrade its operation is explained in Frontiers in Public Health. The authors say that NBS has been operating successfully in Australia for almost 50 years but currently it does not have any coherent national policy or decision-making process that is concurrently agreed by government. The authors describe the policy environment in the United States, United Kingdom and New Zealand which could provide useful information. In Australia the establishment of the Australian Screening Advisory Committee in 2001, now known as the Standing Committee on Screening has played an important role in providing guidance on what constitutes a good screening program through the development of the Population-Based Screening Framework in 2008. However, the authors believe that Australia is operating in an environment, which lacks a considered decision-making process for government, particularly in regards to assessing conditions for screening.

The authors believe that changes to newborn screening programs should be planned instead of being reactive often in response to new technologies. The authors provide several options to overcome the funding barrier, which they describe as chief obstacle, to developing and implementing a national decision-making framework for newborn screening in Australia. They believe that a national decision-making approach, supported by state implementation of decisions, would support consistent decision making across local-level programs.
Read the Open Access article

(source: Orphanews 10-10-2015)

Almost all the guidelines published till date on genetic testing on children for adult onset conditions recommend deferring such tests unless there is a clear indication that it will prevent the future outcome of the condition. Whether the general public agrees with this recommendation is addressed in an article published in European Journal of Human Genetics.

Testing the attitudes of a representative sample of the adult-British public revealed that, contrary to the guidance documents, 47% believed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. Younger respondents of the survey and men were more likely to support this kind of testing as well as carrier testing. The authors also presented 4 arguments in support of deferring testing to the participants, out of which “a child’s future ability to decide for her/himself if and when to be tested” was generally the least supported argument in the sample. However, the authors noted that women were significantly more likely to consider all 4 arguments as valid to defer testing for adult onset conditions.
Read the Open Access article

(source: Orphanews 10-10-2015)

RD-ACTION, the new Joint Action consisting of the member states of the European Union for rare diseases, was launched on 17 September in Luxembourg, under the auspices of John Ryan, Acting Director of the Health Division and Food Security (DG Health), Jacques Remacle, Head of Health CHAFEA unit (Consumers, Health, Agriculture and Food Executive Agency) and Patrice Dosquet, representing the French Ministry of Health.

Following the two previous Joint Actions - Orphanet Joint Action and EUCERD - RD-ACTION represents renewed support of the European Commission (EC) to rare diseases, through its Directorate General for Health (DG SANTE). RD-ACTION has three main objectives:
- to contribute to the implementation, by member states, the recommendations of the EC Panel in relation to policies on these diseases,
- support the development of Orphanet and make it sustainable, and finally
- help Member States to introduce the ORPHA code in their health systems to make rare diseases visible.

With a global budget of €8,344,079, this work will last three years (until June 2018), following the logic of coherence and continuity vis-à-vis the previous actions, but aims to go further in terms of concrete implementation and consolidation policies.

This action is coordinated by Orphanet (INSERM), bringing together no less than 63 European and non-European participants. The responsibility of implementing the various actions will be carried out by Orphanet (Ana Rath), University of Newcastle (Kate Bushby, coordinator of the EUCERD Joint Action which just ended), the German Institute for Documentation and Medical Information DIMDI (Stefanie Weber), the University of Vienna (Till Voigtländer) and EURORDIS (Yann LeCam). The National Bank of Rare Diseases Data (BNDMR) represented by Rémy Choquet, will work towards the codification, notably the requirement of definition and bringing solutions to the Member States for the implementation of coding rare diseases. DIMDI and the Register of the Venetian region (Paola Facchin) will drive the implementation and testing of these solutions. EURORDIS will work towards dissemination actions along with Orphanet and Higher Health Institute (ISS, Italy). The dissemination actions include the 8th European Conference on Rare Diseases and Orphan Products, 26-28 May 2016, Edinburgh. The Directorate General of Health (DGS France, represented by Patrice Dosquet) will lead the work towards a financially sustainable European Orphanet database.

RD-ACTION was designed in the spirit of integration and coherence between the data produced by Orphanet, which provides, among others, the necessary analysis towards policy recommendations, and political action that will then guide the production, operation and dissemination of this data. Participants will ensure effective communication between the reality of each state and the EC Panel, in order to concretely support the implementation of their recommendations.
Read the European Commission press release on RD ACTION

(source: Orphanews 10-10-2015)