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Blueprints now available: genomic medicine in Germany needs to make up lost ground

European genomics researchers discuss ways to quickly establish genomic medicine in Germany

28 May 2019. Genomic medicine is developing at a rapid pace – with great potential for managing cancer treatments and diagnosing rare diseases. On 27 May 2019, over 100 German and international genomics researchers met in Berlin for the TMF workshop Genomic Medicine in Europe – Blueprints for Germany to discuss opportunities for launching the discipline in the country. As Professor Michael Krawczak, Chairman of the Board of Directors of TMF (Technologies, Methods and Infrastructure for Networked Medical Research), urged: “We need a national strategy for introducing genomic medicine in Germany. The type and scope of genomic diagnostics here is no longer adequate, considering international progress.”

Whole-genome sequencing (WGS) enables the identification of virtually all variations in the human genome. In oncology, sequencing an individual’s entire genome can lead to drug therapies tailored to a tumour’s specific genetic makeup. In other words, sequencing opens up more targeted and efficient treatment options.

UK introduces genome sequencing in routine healthcare


   
The National Health Service (NHS) in England has become the world’s first to introduce WGS into routine genetic diagnostics, following a six-year trial and pilot project that sequenced 100,000 genomes. The goal is to harness the large volumes of data from sequencing to enhance healthcare and develop new medications. Professor Tim Hubbard, Head of Genome Analysis at Genomics England, explained: “Given the enormous potential for research and healthcare, a further five million genomes will now be sequenced.” This increases the utilisation of available infrastructure resources, lowering unit cost. Specifically, the cost of partially sequencing a genome in the UK is now under 1000 euros, while the cost for the same procedure in Germany is approximately 2300 euros. Further keynote addresses from leading genomics researchers from neighbouring European nations, including France, Sweden and the Netherlands, demonstrated how genomic medicine can be successfully implemented in healthcare services to the benefit of patients.

   
In addition to the headway made with tailored cancer treatments, WGS also offers new possibilities for tackling rare diseases. Han Brunner of Radboud University Medical Centre in Nimjegen, the Netherlands, pointed out: “In the broader picture, rare diseases are actually anything but rare. In Germany alone, more than five million people are affected by one of some 6000 identified rare diseases.” A recent study shed light on the situation for identifying rare diseases: using WGS, nearly 30 per cent of patients were able to receive a diagnosis, with implications for treatment. In contrast, in the control group just over seven per cent were able to arrive at one – and often only after enduring a veritable medical odyssey. Julia Wilkins of Imperial College Health Partners, London, presented the latest figures underscoring the benefits of WGS for rare diseases: due to the high amount of effort and expense associated with diagnostic tests, costs prior to diagnosis would typically be three times higher than after diagnosis.

In comparison to Europe, Germany has catching up to do

Compared to elsewhere in Europe, Germany is lagging significantly behind. And this has considerable disadvantages for patients, for research, and for the economy. Genomics experts, patient representatives, health insurers, and healthcare-industry players agree that whole genome sequencing – with a focus on cancer, rare diseases, and pharmacogenomics – will in future be vital to diagnostics, prevention and treatment within the context of personalised medicine. With this in mind, workshop attendees called for reform of remuneration for statutory healthcare services, comprehensive quality management for genome sequencing, plus the creation of a wide-ranging genomic medicine programme in Germany – the latter based on examples in neighbouring countries. As a first step, a national team of experts is to be established in the near term. They will work with key stakeholders to develop recommendations for Germany’s genomic medicine strategy.

Standardisation, central data storage and quality assurance are key


   
Professor Hans-Hilger Ropers, from workshop host Max Planck Institute for Molecular Genetics, explored the future structure of genomic medicine in German healthcare. He called for whole genome sequencing that reflects international examples – i.e. is restricted to just a few university medical centres with standardised infrastructure in terms of methodology and technology. He explained: “That is the only way we can achieve the high quality and cost-efficiency to meet international standards. Furthermore, data need to be stored in a central database and made available in a way that supports seamless cooperation between research and healthcare. We owe that to our patients.”

Event slides

  1. Krawczak: Genomic Medicine in Europe – Blueprints for Germany
  2. Hubbart: Genomic Medicine in the UK
  3. Lethimonnier: French Genomic Medicine Plan 2025
  4. Wirta: WGS based rare disease diagnostics in the Stockholm healthcare region – extension to national program
  5. Brunner: Genomics Changes Medicine
  6. Wilkins: Imperial College Health Partners Rare Disease Analysis

Contact:

Wiebke Lesch, Tel. +49 (0)30 22 00 24 731

Stefan Rabe, Tel.: +49 (0)30 22 00 24 723, Mobile: +49 (0)173 6141663

Email: presse@tmf-ev.de


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