how genomics could improve healthcare
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Ewan Birney, Director of EMBL’s European Bioinformatics Institute (EMBL-EBI), reveals how genomics could improve healthcare and pave the way to precision medicine

Sequencing the first human genome was an international endeavour that took more than ten years and cost billions of dollars. We have come a long way since and nowadays; anyone can have their genome sequenced for a few hundred dollars.

Technological advances have meant that genome sequencing is no longer restricted to the research environment. In fact, over the next five years, we expect that genomic data from over 60 million patients will be generated in the healthcare sector. However, if we want these data to reveal useful insights for human health, we must collaborate across national barriers and enable responsible data sharing in the research and clinical settings.

Potential and applications

There are at least four areas of healthcare where genomics could yield significant benefits: infectious disease, rare disease, cancer and common or chronic disease.

For example, many rare diseases have a genetic component, so single-gene tests have been used to support diagnosis and treatment since the early 1990s. This enables families to manage the disease better and can bring patient retesting to a close. Genetic diagnosis can also inform parents about the disease odds for a future child and empower them to make informed family-planning decisions. In some cases, a successful diagnosis can even lead to improved treatment and quality of life.

Other areas are not as straightforward, but can still reveal useful insights. In the case of cancer patients, sequencing the tumour genome alongside a patient’s unaffected genome can reveal how the cancer developed and what kind of treatment it is more likely to respond to.

Barriers and challenges

To draw insights from genomic data, we need large, diverse cohorts of hundreds of millions of people from all over the world. And while this seemed like a dream even as recently as ten years ago, the collective efforts of people worldwide are helping to create the infrastructure, standards and safeguards necessary to make this dream a reality.

There are still significant barriers to the widespread clinical implementation of genomics, including establishing sequencing and bioinformatics capacity to process samples, alongside data integration and interpretation challenges, workforce training and public perception.

The ethical considerations and concerns of genomic data sharing differ between countries and regions of the world, so in order to ethically and securely access to anonymised data from different populations, we need a way to perform federated data analysis without data movement. This means the data remains within national borders. Ethical considerations must sit at the heart of discussions regarding the future of genomics.

Just because technology allows us to do certain things, it doesn’t necessarily mean we should.

Alongside the ethical challenges, there are numerous technical challenges for data harmonisation, analysis and data security. Setting standards and creating a federated system for healthcare data are essential. International collaborations such as the Global Alliance for Genomics and Health (GA4GH) are helping to accelerate the potential of research and medicine to advance human health. GA4GH brings together over 500 leading organisations from healthcare, research, patient advocacy, life sciences and information technology.

Just like the scientific community has previously set up infrastructure and standards for sharing nucleotide data, protein data, sharing research results and so on, it will now have to tackle this latest challenge of enabling responsible genomic data sharing.

Millions of genomes

Since 2013, the governments of at least 14 countries have invested in establishing national genomic medicine initiatives. In countries such as the UK, France, Australia, Saudi Arabia and Turkey, infrastructure and workforce development have been happening in parallel with large sequencing initiatives. In the UK, the 100,000 Genomes Project has already made its data available for approved researchers.

National initiatives in Switzerland, Brazil and Finland are focusing more on developing infrastructures, such as common standards and data-sharing policies. A number of European member states have aligned their goals in the Million European Genome Alliance (MEGA) project. In the United States, the All of Us research programme aims to gather clinical, genomic and lifestyle data from over one million people, to speed up research breakthroughs and enable new kinds of individualised healthcare. On the other side of the world, a potentially transformative project is China’s Precision Medicine Initiative, a 15-year project aiming to sequence 100 million genomes by 2030.

The days when sequencing a human genome took years and cost billions are long gone. As we head towards an era of genomic medicine, we need not just technology, but also the infrastructure, standards, workforce and public awareness to help bring genomics into the clinic.

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EMBL’s European Bioinformatics Institute (EMBL-EBI)
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