Edition of 21 December 2018

On the occasion of the 4th Conference on European Reference Networks (ERN) held on 21 and 22 November 2018, EURORDIS launched recommendations on how to better integrate ERNs into health systems which was one of the key points highlighted at the conference. At present, not all European Union (EU) Member States are represented in the various ERNs. This hinders ERN access to patients and the flow of information generated within the ERNs that could benefit all EU Member States. Integrating ERNs into national health systems is necessary to overcome this accessibility problem and to facilitate the acquisition of knowledge and skills in all national health systems. EURORDIS has published a list of 10 recommendations to link ERNs to national health system infrastructures, that are stated below as published:

1. Create a good level of awareness at national level of the ERN model among all key stakeholders
2. Ensure political leadership and ownership of the ERN system at national level and generate sound evidence on the value of the ERN model
3. Review or adapt national policies on rare or low prevalence and complex conditions to address integration of ERNs into the national health systems
4. Member States to set up national networks of rare disease expert centres and the rare disease patient community to create national networks compatible with the ERN-disease groupings
5. Incorporate new Full Members and Affiliated Partners specifically to cover ERNs geographical and/or expertise gaps
6. Set Up National Coordination Hubs and designate ERNs national focal points
7. Streamline the process to endorse healthcare providers that apply for full membership
8. Define and validate ERN referral pathway at national level to ensure timely access to ERNs advice and adequate management of care referrals
9. Establish a funding mechanism to finance ERNs virtual advice
10. Develop a mechanism to recognise and adopt at national level clinical guidelines reviewed or adopted by the ERNs

These recommendations will help ERNs to integrate with national health systems to improve care for all rare disease patients in Europe, accelerate their diagnosis and promote the advancement of research through better and genuine collaboration between all Member States.

In 2013, the federal government of Germany adopted a national action plan for rare diseases, which included the establishment of a central information portal on rare diseases (ZPISE). A study published in JMIR Research Protocols aimed at defining the needs of patients, their families, and medical professionals, in order to ensure the best implementation of this portal. The study also spawned the development of quality criteria for website on rare diseases to ensure that the information linked with the portal meets the quality demands. These two steps allowed the test of a prototype for the information portal, with satisfying results.

An update on the status of the Human Phenotype Ontology (HPO) was recently published in Nucleic Acids Research. The paper describes new content, language translations, mappings and computational tooling, as well as integrations with external community data. It also mentions the newly redesigned HPO website. HPO recently achieved status as an IRDiRC recognized resource and is used by the Global Alliance Genomics and Health and the associated Matchmaker Exchange. The authors also underline the long-term collaboration between the HPO project and Orphanet in the framework of the HIPBI-RD project, which has resulted in more than 60,000 HPO annotations for disease in the Orphanet database. The collaboration also spawned the creation of the HPO-ORDO Ontological Module (HOOM).

A comparative analysis of authoritative documents was combined with 15 semi-structured interviews with professionals in the field of prenatal screening in the Netherlands, in order to provide the ethical framework of non-invasive prenatal testing. Four outcomes were drawn from the study, in that the test should only be relevant to reproductive decision-making, adequate counselling should be provided so that parents can make an informed choice, the rights of future children should be respected, and the out-of-pocket cost should be restrained to guarantee an equal access. The authors of this study published BMC Pregnancy and Childbirth argue that the conclusions drawn can be applied to international and other health care systems.

Fifty patients with adult-onset myotonic dystrophy type 1 were evaluated using the Nine Hole Peg Test (NHPT) as a measure of dexterity. The reliability of the test was validated in a paper published in Neuromuscular Disorders. Authors of the study postulate that the test could be considered as a candidate outcome measure to monitor natural history of the disease and therapeutic response in clinical trials.