Edition of 12 April 2019

Rare Barometer Voices is the EURORDIS survey initiative that brings together over 8,000 rare disease patients, family members and carers who share their experiences and opinions on the issues that matter to the rare disease community. This latest survey, available in 23 languages, is designed to provide a detailed, up-to-date insight into the unmet treatment needs of people living with a rare disease. As well as providing an overview of rare disease patients’ experience of treatments at a global level, the Rare Barometer Voices framework enables the results to be analysed in a number of different ways including by geography, disease group, gender and age. These insights will be used to advocate for positive change for the rare disease community on a number of different themes including prioritisation of unmet treatment needs, reinforcing good clinical practices for paediatric and adult patients, identification of off-label use of treatments and accelerating the development of, and timely access to all, rare disease treatments and therapies. Results will be shared with patient organisations, policy makers and the general public via a full report and associated infographic. Where response rates allow and upon request tailored infographics will be created to show country, ePAG (European Patient Advocacy Group) grouping and disease specific results. Requests for these tailored infographics can be sent to rare.barometer@eurordis.org.

New figures released by the Irish Pharmaceutical Healthcare Association demonstrates that only 29% of orphan drugs authorised by the European Medicines Agency are available in Ireland. The United Kingdom and Germany had the best results with a score of respectively 92% and 96%. The study includes rare disease drugs authorised between 2015 and 2018 and assesses the rate of availability to patients of these medicines.

The Welsh Congenital Anomaly Register has published data which now encompasses rare diseases data collection in children. They are published and available on the register’s website.

A review article published by Cell Journal set out to describe the state of genetic variant discovery, genotyping, and functional interpretation and discuss the prospects for future advances. It specifically focused on whole-genome sequencing technique and implications for rare human diseases. The paper points out two main challenges: comprehensive variant discovery and accurate prediction of functional effects of variants. Whereas the first one seems to be in the way of being solved, the prediction of variant effects represents bigger hurdles in spite of a consensus regarding the need to use various approaches. The authors conclude that to meet these objectives there is a necessity to integrate genomics with population-scale phenotyping and clinical implementation.

Five United States states now conduct screening test for Spinal Muscular Atrophy on newborns: Missouri, Minnesota, New York, Pennsylvania and Utah. According to an Advisory Committee on Heritable Disorders in Newborns and Children report, newborn screening of the four million babies born in the US each year, could prevent the death and mechanical ventilation in 48 infants by their first birthday. Other 13 states are currently in the process of passing laws requiring such screening.