FH Europe Foundation Ambassadors have collaborated as part of the European Patients’ Forum (EPF) Taskforce on unmet needs, specifically the definition of 'unmet medical needs' and how it will shape the future of healthcare. This urgent and important issue arose in the context of the reform of the EU pharmaceutical legislation. In the spring of 2023, the European Commission adopted a proposal for a new Directive and a new Regulation, which revises and replaces the existing general pharmaceutical legislation (Regulation 726/2004 and Directive 2001/83/EC) and the legislation on medicines for children and for rare diseases (Regulation 1901/2006 and Regulation 141/2000/EC, respectively).
In a defining moment for pharmaceutical regulation in the European Union, Article 83 of the European Commission's proposal for a Directive on medicinal products for human use introduces the pivotal concept of "unmet medical need."
Over a number of weeks, the international patient advocates community brought together by the EPF, worked together to highlight the need for more inclusive approaches beyond morbidity and mortality. To develop a fair and equitable definition, they wanted to ensure the patient's voice was heard. The Taskforce believes that patients should play an active role in shaping the definition of unmet medical needs as they are the ones directly affected by it. By incorporating their perspectives and experiences, a deeper understanding of the challenges they face and the gaps in healthcare that need to be addressed is gained. Through this collaborative effort, the Taskforce hoped to create a definition that truly reflected the diverse needs of patients and paves the way for a more patient-centred healthcare system.
“If the EU only looked at morbidity and mortality as signs of unmet medical need, they would miss other vital life-changing signs that may need significant therapeutic improvements from a patient's point of view, like how well current treatments are working or how they affect the quality of life”
We thank the Ambassadors involved in this project, ensuring the needs of the community affected with inherited dyslipidaemias are well represented, especially in the context of primary and secondary prevention, quality of life and precision medicine delivery for patients with FH, HoFH, elevated Lp(a) and FCS.
A position paper on this crucial topic prepared by the EFP has now been published.
Read more on the topic:
On 6th October 2023, FH Europe Foundation Community Engagement Manager, Emma Print, was invited to speak at the Italian Ministry of Health as part of AISC’s 9th Annual Congress. The topic was “FH - What is the Real and Undetected Issue? How can we Raise Awareness?”
Emma spoke to an audience of 250 patients and healthcare professionals, highlighting that cardiovascular diseases are the no.1 cause for death globally and in Europe. 1 person in 16 people diagnosed with coronary artery disease have FH.
Globally 1 person in 250-300 people have FH and yet 90% of those don’t know it!
Emma then extrapolated the data to make it more relevant for the Italian audience, illustrating that approximately 196,000 people in Italy will have FH (based on population data from 3rd Oct 2023).
She highlighted the impact FH (especially undiagnosed and untreated FH) can have on the family, and how we at FH Europe Foundation are advocating for change with a focus on FH paediatric screening, building on this with a high level technical meeting under the Slovenian Presidency in 2020, and then with the Prague Declaration in 2022.
The key takeaway message for the audience was to ‘know your numbers’. If anyone has high levels of cholesterol and/or a family history of early heart disease, it is essential to be checked for FH. You may save your own life and those of your family.
FH Europe Foundation would like to thank Professor Salvatore Di Somma and AISC for this opportunity, and Professor Francesco Fedele for translating.
On October 2nd, 2023, Genomics England released a list of more than 200 rare conditions that will be screened as part of “The Generation Study”, which will commence in National Health Service (NHS) hospitals in late 2023. The study aims to discover rare genetic conditions earlier. By leveraging the latest advancements in genomic research, the Generation Study is on a mission to unlock the full potential of early detection and intervention for rare genetic conditions. With a goal to sequence the genomes of over 100,000 newborn children, this ambitious initiative aims to lay the foundation for a future where personalised healthcare for every infant is a reality.
The initial list includes 223 individual conditions, among them homozygous familial hypercholesterolaemia (HoFH) and familial chylomicronaemia syndrome (FCS), caused by genetic changes in over 500 different genes. Those genes have been selected based on four key principles developed by Genomics England:
The study will identify suspected diagnoses for 500-1,000 out of the 100,000 babies who take part in this newborn screening (NBS) initiative by providing them with earlier access to testing and hopefully treatment. The initial list may be subject to further changes during the study, with any changes highlighted in an amended published list. Thousands of children are born in the UK every year with a treatable rare condition that could be detected using genome sequencing.
The inclusion of HoFH and FCS on the list of conditions to be tested for is truly inspiring. It has the potential to create preventive care for those born with these rare conditions and leave a lasting impact on both families and society. The findings will surely provide a body of evidence which will improve the care for people in the UK and beyond.
An interesting fact: Prof. Steve Humphries from the UK and FH Europe’s Scientific Committee Advisor worked with Genome England regarding HoFH and FCS. He also advocated adding HeFH into the study, but sadly it was not accepted.
The official press release by Genomics England
The official list of selected conditions
The key 4 principles for choosing the conditions to screen for
Tags: #HoFH #FCS #Genomics #Screening #RareDiseases #Precision #screening #NBS