Edition of 11 August 2017

EURORDIS, Rare Diseases Europe, has published the results of the first European investigation on the social impact of rare diseases. According to a press release from EURORDIS, more than 3,000 rare diseases patient organisations took part in a survey entitled “Juggling care and daily life: The balancing act of the rare disease community”.

Led in 23 languages and in 42 countries, the investigation was carried out with the help of the ‘Rare Barometer Voices’ community which gathers around 5,000 patients suffering from rare diseases, in the context of the INNOVCARE project which focuses on rare diseases that is co-funded by the EaSI (Employment and Social Innovation) programme. This project is led by the Spanish Health Ministry and Social Services with EURORDIS as a partner.

According to the investigation, rare diseases have a serious impact on the daily life of patients and their families. The management and coordination of everyday care represent a real burden for patients and their families:

• 42% of respondents said that more than 2 hours a day are needed for a patient care;
• 62% of respondents said that more than 2 hours a day are dedicated to the disease while almost a quarter dedicated more than 6 hours a day to patient care;
• At least 64% of carers are women;
• 38% of respondents said that they were not able to go to work due to their condition for more than 30 days in the last 12 months;
• 41% of the patients and carers had needed a special sick day from work without obtaining it;
• 60% of the 3,000 respondents are patients suffering from a rare disease or a member of their family.

The everyday impact of rare diseases is equally processed, by introducing mental disorder, work and potential economic issues related to it.

Read the full report on the EURORDIS website

In this article published by the Journal of Genetic Counselling, a study on patients with genetic conditions like spinal muscular atrophy (SMA), that are under-represented in a literature that explores the implication of developments in genetics – developments that are changing the capacity and scope of screening practices is highlighted. According to a survey which interviewed a cross-section of people with SMA ranging from severe and early onset (Type II SMA) to milder, later onset (Type III / IV SMA) on their opinions regarding screening practices, the study has found that more severely affected individuals are less likely to support screening and more likely to view the condition positively than those with Type III or IV SMA. More findings, conclusions and subsequent recommendations for engaging more people with conditions in a discussion of adopting screening techniques are contained within this article, according to a survey which interviewed a cross-section of people with SMA ranging from severe and early onset (Type II SMA) to milder, later onset (Type III / IV SMA) on their opinions regarding screening practices.

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In an article for the European Journal of Pharmaceutical Sciences, the authors detailed in a recent report that to support open innovation in the scientific community it is necessary to share resources in order to address new questions, or provide more accurate answers to old questions when merging information from different resources. This should increase the reliability of scientific findings through enhanced transparency due to the sharing of resources between organisations. Meanwhile, concerning the field of pharmacometrics, this step has already been taken. Actors in the field are publicly sharing their data, models and workflow. Issues are being raised concerning the sharing of the resources as regards the data formats, exchange standards, and database properties. Some organisations are working on these issues in order to propose standards. With stronger collaboration between organisations, this approach will promote more sharing of knowledge from the pharmacometrics community and thus collaborative work.

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