Edition of 31 January 2019

An extraordinary meeting of the Steering group on Health Promotion, Disease Prevention and Management of Non-communicable Diseases was organised on the 28th September 2018 with the representatives of 23 Member States, as well as Norway and Iceland. The meeting aimed to give information on the Horizon 2020 research programme and the Structural Reform Support Programme as well as present an outlook for Horizon Europe, the Reform Support Programme and the European Social Fund+. The importance of improving linkages between health policy and research policy was acknowledged. The Horizon 2020 programme seeks to foster work and projects for a better understanding of disease; health promotion and disease prevention; diagnostics and therapeutics; health policy research; and implementation research. This should allow for synergies between EU research and health programmes to emerge. A proposal to bring five funds together (the current ESF, Investing in Youth (YEI), Support for the most Deprived (FEAD), Employment and Social Innovation programmes) under the future ESF+ was mentioned. As a whole, the meeting exposed the Commission’s desire to work across silos and promote cross-fertilisation and coherence between EU programmes.

Following this event, the steering group held its official first meeting on the 6 November 2018 in Luxemburg. The group discussed the opportunity of cooperating with the Expert Group on Health Information as a means to support decision making; the development of Orphanet and the rare disease registry platform by the Joint Research Centre; and the need to prioritise mental health as the area for best practices.

The General Court backed the European Commision and the European Medicines Agency in a case brought by Bristol-Myers Squibb Pharma (BMS) and confirmed the obligation to prove the significant benefit of a medicinal product over all other authorised medicinal products before being granted a market authorisation. The case in point concerned BMS’ obligation to collect comparative data between its own product and a drug authorised after the company submitted its marketing authorisation application. Such comparison can be quite difficult to assess due to a lack of publicly available data for newly authorised medicinal products. Nevertheless, the Court confirmed the Committee for Orphan Medicinal Products’ (COMP) negative opinion on the grounds that the information gathered by BMS did not allow for a sufficient comparison.

With the success of the Orphan regulation many more companies are developing similar orphan drugs at the same time. The ensuing competition for market authorisation is hence challenging the COMP’s stringent rules and processes for granting such approval.

Last June 2018, the European Commission published the final report of a study on cross-border health services with the objective of providing guidance enhancing information provision to patients. It intends to provide key principles for good National Contact Points (NCPs) services and are designed to assist NCPs in their mission of providing clear and accurate information on the issue of cross-border healthcare. The document outlines 9 guiding principles:

• Principle of Visibility
• Principle of Accessibility
• Principle of Transparency
• Principle of Inclusion
• Principle of Duality
• Principle of Information to outgoing patients in accordance with the Directive
• Principle of Information to incoming patients in accordance with the Directive
• Principle of Information to healthcare providers
• Principle of Cooperation

Overall, the principles aim to improve the uniformity, quality and patient-oriented standards of NCP practice.

The UK government published on 4 January a further guidance note on the regulation of medicines, medical devices and clinical trials in the case of a no Brexit deal. It reasserts the UK’s decision to opt out from the European medicines regulatory network with the Medicines and Healthcare Products Regulatory Agency (MHRA) taking over the regulatory functions of the EU in this domain. All the centrally authorised products approved by the EU until now should be granted a UK marketing authorisation and orphan drugs would still keep their ten-year marketing exclusivity period. The UK market would stay open for products fulfilling EU regulation for a non-specified “time-limited period”. Finally, the government reiterated its commitment to align the regulation of clinical trials with EU standards in the event of a no-deal.

Last December the 100 000 Genomes Project launched in the UK in 2012 announced that it had reached its objective of sequencing 100 000 human genomes: 85 000 National Health Service patients with a rare disease or related to an individual affected by one as well as the genomes of tumor cells. The project has already yielded positive results as 25% of the people with rare diseases who took part in the initiative were able to receive a diagnosis for the first time, increasing their chance of being treated. Furthermore, the UK government is planning to extend the project with a target of 5 million genomes to be sequenced over the next five years.

An article from the Journal of Genetics and Genomics, reviews the use of whole-exome sequencing (WES) to reveal genetic causes of unexplained recurrent spontaneous abortion and foetal malformations. The authors advance the benefits derived from the use of such technology but also unveil its limits. Indeed, WES only covers around 97% of the exons of targeted genes in the human genome and is limited in detecting a certain number of mutation types. Overall, the paper argues for a continued and improved use of WES as a means for prenatal genetic diagnosis which, combined with the research in other fields, can considerably enrich our understanding of these diseases.

A new bill, S-484, aiming to revise newborn screening for congenital disorders in New Jersey was adopted by the Senate. It plans the establishment of a “Newborn Screening” program in the Department of Health and of a Newborn Screening Advisory Review Committee. The goal of the latter would be to annually review screening technologies, treatment options, educational and follow-up procedures and revise the list of disorders comprised in the newborn screening program.

All changes would require the approval of the Commissioner of Health which would also take on the responsibility of providing timely information and recommendations for referral to specialist services for newborn infants diagnosed with certain disorders. Finally, the bill allows for parents of newborn infants to opt out of the screening program if they have a religious objection.

Current Rheumatology Reports released a review of anxiety and mood disorders in patients with systemic lupus erythematosus (SLE) with a focus on their etiology, assessment, and management. The paper reveals that the presence of anxiety and depression which are common in patients affected by SLE is not a direct manifestation of the disorder but is often related to adverse outcomes like medication non-adherence and SLE disease flares. The article finally points out the need for regular screening and treatment for these comorbidities and a gap in research regarding potential pharmacotherapy treatment for anxiety and mood disorders in SLE. It also pushes for further investigation on biomarkers, autoantibodies and inflammatory pathways as a means to shed light on their etiology.

The American journal of Medical Genetics published a literature review on the psychosocial impact of 22q11 deletion syndrome on patients and relatives. The main themes emerging from the literature were: the often complex and mixed emotions of families and patients alike, the educational and healthcare challenges linked to the diagnosis including the uncertainty and stigma associated with 22q11DS and finally the struggle for independence and individualisation of patients.