Unleashing the power of genetics in different disease areas – EAPM Presidency Conference on Diagnostics for All & Public Health Genomic, April 5th – register now!!

The European Alliance for Personalised Medicine’s annual Presidency conference is now just a day away (Tuesday, 5th April) with the agenda available HERE and registration link HERE.   

The conference theme this year is ‘Determining a path for optimal integration of  Access & Diagnostics for All & Public Health Genomics’.   The conference will bring together world-leading practice and expertise that exists in pockets across countries and sectors will make it possible to apply their collective knowledge and skills to address universal health challenges, and provide a network for sharing best practice.  

The rapidly changing world of genomics in healthcare has opened up many new opportunities. Now it is time to grasp them. 

The amount of data on genomes that could be shared promises to lead to almost-immeasurable advances in early diagnoses and the ability to give the right treatment to the right patient at the right time - an overriding goal of personalised medicine. 

But there is also a clear need to provide value for money in cash-strapped healthcare systems that are struggling with ageing populations, dealing with a new clinical trial paradigm in the wake of the discovery of more-and-more rare diseases, and collapsing under the weight of a huge increase in co-morbidities.

However, evidence suggests that diagnoses are increasing, and improving, via the use of next generation sequencing and other genetic breakthroughs, with costs coming down and a growing confidence, arguably, as the public becomes more aware of the potential to improve health in this and following generations.  

The recent co-ordinated, pan-European initiative geared towards garnering crucial genetic information, furthering the networking of relevant repositories, and making use of advanced digital technologies will have an immeasurable benefit when it comes to the health of current and future EU citizens. 

The Declaration signed in 2018 - which was floated and framed by EAPM as ‘MEGA’ – has seen Member States and other countries work together “Towards access to at least one1 million sequenced genomes in the EU by 2022”. 

This is via a collaboration mechanism with the potential to improve disease prevention, allow for more personalised treatments and provide a sufficient scale for new genetic research.  

Each session will aim to develop concrete policy asks' linked to ongoing initiatives at the EU and Member state level as well as taking account of the specifics of regional and national healthcare systems. 

Think positive: The session will discuss!!

There are is much evidence now available that genetics is having a hugely positive effect in certain disease areas, such as various forms of cancer, inherited heart disease, brain diseases and for rare diseases. 

In cancer, for example, genomic sequencing can help reduce, or avoid, treatment, minimise adverse events and reduce time delays in treatment selection.

Much has been shown with the identification of the HER2/neu gene in breast cancer and the subsequent development of treatment.   

This has certainly raised the cost of the treatment of breast cancer but that is, for the most part, due to the cost of medicines for the 25-30% of women who test positive for HER2/neu.   

While it is undeniably a costly scenario, it has brought about substantial clinical benefit, while sequencing in colorectal cancer has actually saved money. 

In the arena of rare diseases, research has shown that around 1-in-17 people may, at some point in their lives, suffer from one or another (although many rare diseases go undiagnosed, so that figure is almost certainly on the low side).

Meanwhile four-fifths, at least, of rare diseases have a genetic origin with half of all new cases being found in children.  

For some rare diseases such as inherited heart disease, if effective treatments are available following disease diagnosis, sequencing could provide clinical and economic benefits.  

For certain, when it comes to genomics and economics, the debate will continue down the line, but EAPM is confident that, as the evidence begins to stack up, the ‘value balance’ will come down firmly on the side of the breakthrough sciences.

The increasing understanding of the genome is recognised as being one of the main determinants of future improvement in healthcare. 

The availability of genetic data from a large number of individuals increases the ability to investigate questions across many rare and common diseases and in different populations, and also provides more information for understanding clinical care outcomes for an individual. 

The future looks extremely positive as will be discussed in the conference tomorrow in the following sessions: 

• Opening Session:  Public Health and Genomics: the future is already here
• Plenary Session I: Bringing innovation into Healthcare Systems
• Plenary Session II: Molecular Diagnostics, Screening and Early Diagnosis to the Fore
• Plenary Session III: Diagnosis and Treating Patients
• Closing Session

The agenda is available HERE and registration link HERE. 

More coordination the key as ever through multistakeholder panels

With so much opportunity, but with so much current dispersal of Europe's steps to take advantage of it, there is an obvious need to bring the many strands closer together. Currently there is a dearth of interconnection between potential partners.

Europe needs agreement on standards for genomic data generation, analysis, privacy and sharing of genomic and associated clinical and other phenotype data, including self-reported data, data from wearables, omics, and imaging. 

And it needs more effective clinical informatics, with agreed standards for interoperability of health informatics systems. 

Coordinated national activity would ensure best practice emerging on clinical implementation. 

There are gaps that need filling with a European strategy on engaging the public in discussions around genomics and data use, and with a European training programme in genomics, informatics and personalised medicine for clinical staff. 

And discussion is needed with and among European regulators on the appropriate mechanisms for regulating clinical genomic testing.

Where we are and where we go…

Clinical and research use of genomic technologies has until now largely concentrated on the 1% of the genome that are the instructions for cells to make proteins, the genes. But we need maximum gain by concentrating on whole genome sequencing where needed. 

What is now required is access to high-quality data to increase the power of genomic testing in current clinical indications and establish the foundations for future application of genomic medicine.

Genomics has been a game-changer for clinical and translational research over the past decade, and has improved success in medicine discovery and development.  

This will be all discussed in our Presidency Conference tomorrow (April 5th) on the theme of ‘Determining a path for optimal integration of  Access & Diagnostics for All & Public Health Genomics’.

The agenda is available HERE and registration link HERE.

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