Genome data for next generation healthcare

Almost 50 actors in bio and IT fields met in Helsinki to discuss opportunities for using genome data to promote healthcare and well-being. Photo: Terhi Ylimäinen

Genome data for next generation healthcare – opportunities for services translating genomes into health and well-being

Heta Koski

Our knowledge of human genome will increase dramatically over the coming years. The use of genome data will also penetrate into healthcare. A whole new field has sprung up as a result of these developments, offering companies opportunities to create new products such as medical applications.

– Challenges include the pressure exerted on healthcare by new technology and – as yet unknown – negative consequences on potential misinterpretation of these data, says Tommi Nyrönen from CSC.

Nyrönen is Head of Node for ELIXIR Finland (the European Life Science Infrastructure for Biological Information) and a permanent expert on the Genome Centre Finland working group appointed by the Finnish Ministry of Social Affairs and Health.

Tommi Nyrönen is Head of Node for ELIXIR Finland (the European Life Science Infrastructure for Biological Information). Photo: Terhi Ylimäinen

Finland is ideally placed to act as a pioneer in this field, Researchers have access to extensive health data resources and the nation is one of the world leaders on developing health-related technology. Finland also has a very ambitious genome strategy that aims to harmonize national laws, educate population and medical staff on genomics and apply genome information for healthcare by 2020.

The Finnish health and genome data is currently being stored at several different systems and databases. Improvements are expected through the proposed Genome Centre Finland, Comprehensive Cancer Centre Finland (FICAN), and closer cooperation between public biobanks. This could also promote the development of the national service portfolio alongside existing gene tests and their auxiliary services.

SMEs are drivers for innovation

Health and well-being sector is typically thought suitable only for large medical corporations and big pharma. However, small and medium-sized companies also play a significant role in harnessing and understanding how genome data should be applied within this sector. SMEs innovate and commercialize products based on the academic research and publicly funded well-maintained data resources.

– SMEs have the chance to be pioneers in how genome data will be introduced into national healthcare. For example, it is important to understand how genome data of a patient can be used to facilitate choices during medical treatment, says Nyrönen.

There are as many potential products based on genome information as there are specialised fields in medicine. Will an eye operation help this particular patient? What is the predicted progression of a cancer with a particular mutational spectrum? Is it safe to give this medicine to this patient and in what quantity?

– It is possible to develop entire product family based on genome data. Health applications and artificial intelligence cannot replace doctor-patient relationship, but in the future new technology and knowledge on how to apply genome information for patient care will increase accuracy and speed of disease diagnosis making healthcare more cost-effective and tailored to the patient needs, says Nyrönen.

Research and business should cooperate

– Integrating genome data into next generation healthcare will involve many challenges.  The best way to find solutions will definitely be through international networking and supporting cooperation between the public and private sector, says Ilkka Lappalainen, Biomedical Service Development Manager for ELIXIR Finland.

A two-day ELIXIR seminar on harnessing genomics and health data was held in Helsinki during cold February to identify the requirements for cooperation. The idea was to create a place for bio and IT companies to meet those providing public resources.

Julia Wilson is dedicated to creating awareness of the importance of genome research.
Photo: Terhi Ylimäinen

– We have reached a turning point in genetics – the academic world can no longer do everything alone, says Julia Wilson, Associate Director of the Sanger Institute, one of the world's leading genomics research institutes.

– We need events like this, where we can network with public- and private-sector actors across industry and organisational borders, and learn together.

Wilson is dedicated to making both political decision-makers and the general public aware of the importance and impact of genome research, and also to forging links with the corporate world. She actively engages in this work through the Global Alliance for Genomics and Health.

Blueprint Genetics was recently chosen as one of the ten hottest start-ups by Talouselämä, a leading Finnish financial magazine, and the company's CEO, Tommi Lehtonen, concurs on the importance of contact between the research and business communities.

– Our entire business is based on scientific literature – we would have no business without it! New research data also strongly steers the design of our genetic tests.

Blueprint Genetics receives DNA samples from clinics and determines whether patients have hereditary diseases.  With the aid of automation and artificial intelligence, the company has expanded from its initial specialisation in cardiovascular diseases to cover 14 categories of hereditary diseases.

Does existing data have any value in the future?

The costs of genome sequencing have fallen dramatically over the last fifteen years.
Click photo to enlarge. Photo: National Human Genome Research Institute (NHGRI)

The costs of genome sequencing have fallen dramatically: from a hundred million dollars to about a thousand dollars in only fifteen years. The burning issue in both science and business is managing the ever larger data volumes. It is estimated that by 2025, there will be as much genome data as astronomical data, or that generated by YouTube and Twitter.

– There is more patient data available through biobanks and, thanks to the fall in costs, these patients also have genome data. Furthermore, the coverage of genomic and phenotype information has increased for each biobank sample says Anita Eliasson, Director of Operations at BC Platforms, which develops tools for data analyses.

You do not have to be a genius to realise that, as researchers are processing larger datasets, they will also require increasing volumes of storage and computing resources. Finnish research teams, for example, are harnessing BC Platforms' tools that scale against the secure CSC Cloud computing environments.

It is also worth considering the value of datasets that have been collected to date.

– At least the value of datasets that can be linked to phenotype information will rise, says Lehtonen.

Tommi Lehtonen spoke at the ELIXIR SME & Innovation Forum in February. Photo: Terhi Ylimäinen

What, then, do SMEs require to be able to generate business around biological data? Data must be maintained and, if necessary, reanalysed. It is not enough for data to simply be collected and made available for others to use.

– Data must be well documented using international standards, and it must have a sufficiently long lifecycle. Otherwise the risk for an innovation based on data collected by academic research team is often too high to be carried by SMEs, says Henrik Edgren, CSO of MediSapiens.

Genome data as platform for growth

Although advancements in genome research have enabled increasingly individualised health promotion and disease treatment, the interpretation of genome data still requires specialist expertise. DiagFactor, run by Merja Auvinen, a docent in cancer biology, is the first Finnish online genetic counselling service.

– A whole new profession is required to promote communication between hospital geneticists and medical staff – the genetic counsellor. We also need counselling targeted directly at consumers, says Auvinen.

Ilkka Lappalainen would also like to see opportunities on well-being commercialized in Finland. There are already success stories abroad.

– For example, the US company 23andMe actively discusses with its approximately one million customers world-wide. The company's business model is based on regular online interviews with the customers and correlating these data with their genome information. The company also actively engages in research projects with their strategic partners. In Finland, we already have experience with a variety of portable health devices that can be used to collect data about, for example, heart rate, blood pressure, sleep quality or tracking activities during daytime. There is still a lot we could learn from companies such as 23andMe, says Lappalainen.

Anita Eliasson reminds us how young the field is, and how quickly things change. When BC Platforms started up, universities barely even taught topics like bioinformatics.

– The genome is a digital recipe for an organism, for every single cell component and cell function that interacts with the surroundings. Although we may not be able to interpret all the information yet, we can extract the genome sequence data and some aspects of how it has been used within the cells. Interpretation efforts will continue for decades and employ hundreds of people who have not even been trained yet, says Tommi Nyrönen.

– Processing genome and personal data requires always appropriate security. National data security requirements for information management are included in the specifications for establishing the Genome Centre Finland, Comprehensive Cancer Centre, and the central services for biobanks. Current legislation will be change to support safe storage, transfer and legal use of data, while also taking EU regulations into account, says Ilkka Lappalainen.

A report issued by the Ministry of Social Affairs and Health in 2015 calculated that the Genome Centre Finland would generate considerable savings for healthcare. If collected genome data could help to prevent just 2-5 per cent of cardiovascular diseases, it would mean an estimated EUR 10–26 million in annual cost savings.


  • Finland has ratified the ELIXIR agreement, the European Life Science Infrastructure for Biological Information (Covenant 7/2015).
  • ELIXIR Finland, which operates out of CSC, is provides secure and scalable information management solutions for biological data that could also be applied to for example, healthcare.
  • ELIXIR Finland provides research teams with Finnish-developed IT tools, data storage and computing services and training for medical science and bioinformatics. Services and applications developed by other ELIXIR member organisations are also at the disposal of Finnish researchers. Bioscience researchers can also access a vast amount of biological data through ELIXIR.
  • As part of the international community, CSC acts as a driver for national requirements through, for example, ELIXIR and GA4GH Global Alliance for Genomics and Health).

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