Turning science fiction into personalised care: how genome sequencing helps patients

The sequencing of human genomes is destined to shape the future of healthcare as we know it.

The first human genome sequence took 13 years to complete and cost just short of £1bn. Even a decade ago, getting it done on the NHS in two days for under £1,000 was the stuff of science fiction.

And yet it is now part of the UK government’s new National Genomic Strategy, published late February.

But will genome sequencing really help patients?

Better decisions

It will certainly help some people make better decisions about their health. It is rare that genome sequencing can tell you that you will definitely develop a certain disease. But abnormalities in your genetic code can help spot an increased risk or genetic tendency towards it.

This can enable the NHS to offer preventive solutions that diagnose and address conditions before the symptoms occur. The most famous example of this is the mutation in the genes that are associated with a type of breast cancer that runs in families.

The function of these genes is to repair cell damage and keep breast cells growing normally – everyone has them. But when these genes contain abnormalities or mutations, the genes don’t function normally, which causes an increase in that person’s risk of developing breast cancer.

If a person knows that they have a specific genetic abnormality, they can work with their health team to use the information to inform decisions that are personally right for them.

Health and social care secretary Matt Hancock’s ambition is to sequence five million genomes in the UK by 2023-2024. His new National Genomic Strategy builds on the 100,000 Genome Project implemented by Genomics England, which has helped make the UK an international genome sequencing success story

But what about people who are already sick? By sequencing a person’s genome, not only can they get an accurate, very specific diagnosis, the information can enable healthcare providers to design and deliver personalised treatments that maximise their own chance of recovery.

This is why the National Genomic Strategy focuses on people with certain cancers and rare genetic disorders, where diagnosis can be tricky, and the response to “average” treatment can vary a lot from person to person.

The idea is to make sure that the UK can offer a predictive, preventive and personalised health and care service for these people. The possibilities are exciting.

Health and social care secretary Matt Hancock’s ambition is to sequence five million genomes in the UK by 2023-2024. His new National Genomic Strategy builds on the 100,000 Genome Project implemented by Genomics England, which has helped make the UK an international genome sequencing success story. 

The recent My Genome: our Future conference in Brussels was packed with speakers from the UK from leading NHS geneticists, to leading researchers and Genomics England.

The success of the programme is underpinned by the fact that the 100,000 genomes project not only connected to research organisations but also rooted itself in the NHS and NHS patients.

Thirteen Genomic Medicine Centres were established by NHS England in NHS trusts across the country which had a track-record of providing excellence in genomic services.

These GMCs were responsible for recruiting NHS patients to enrol in the project. The testimonies on the Genomic England website speak for themselves – sequencing offered NHS patients, mainly children, answers when there was previously no diagnosis.

Other countries have been keen to learn from Genomics England’s example and bring their health systems on board. In 2018, for example, Genomic Medicine Sweden received a two-year grant to strengthen precision medicine throughout Sweden and implement genomics broadly in healthcare so that patients will receive access to new diagnostics and treatment.

The small country of Estonia is 17 years into its long-term genome sequencing programme. It has just announced that over the following four years, some 430,000 people from a population of 1.3 million – one third – will be asked to contribute their DNA to the project.

The samples are stored in a repository, the Estonian Genome Centre, based in the University of Tartu. The genetic data collection, which builds on existing genetic records of over 52,000 Estonians collected since the centre opened in 2001, is the core of a plan to revamp the small country’s healthcare system.

Many of the challenges around genomic medicine are shared challenges.

That’s why governments across Europe have come together in the Million European Genomes Alliance, an agreement to collaborate on the secure and authorised access to national and regional banks of genetic data and other data relevant for health that will help achieve our shared ambitions in genomic medicine faster and more effectively.

This important alliance should hopefully be unaffected by Brexit.

The more understanding we have of the human genome, the more effectively we can diagnose, treat and prevent illness. Working across international borders will help speed up progress and turn science fiction into the UK’s ability to deliver personalised care that is more and more effective for patients.