A public genome project will enhance healthcare quality and reduce costs

Ireland needs to join the growing number of countries performing national public genome projects. Our European neighbours in Finland, Denmark, Estonia and England have already embarked on such projects, as have countries like the United States and Japan, with Dubai the most recent to announce that it is joining this pioneering group.

The investments being made are substantial. Finland, whose population is closest in size to Ireland, is investing €59 million. The English 100,000 Genomes Project invested £300 million initially, Estonia has already spent €12 million, while Germany has allocated €360 million for a personalised medicine initiative involving the generation of genomic information from its citizens.

Politicians and civil servants in these countries are not deciding to perform these projects because of a new-found love of genomics. So why are they investing money that could be used elsewhere in their healthcare systems?

A major justification is that public genome projects will enhance healthcare quality and reduce costs. In Finland one aim is to use genomic information to predict the future risk of type 2 diabetes and cardiovascular disease. By identifying those at most risk, before they develop the disease, Finland hopes to guide targeted interventions and prevent disease onset in 2-5 per cent of people, a conservative goal.

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The Irish population has several hundred thousand people with type 2 diabetes, accounting for 10 per cent of our healthcare spending. If the number of people in Ireland with diabetes could be reduced by 2-5 per cent we would expect to save €22-€55 million each year, with a further €8-€20 million annually in savings should the same degree of prevention be possible for cardiovascular diseases.

Diagnose

The health benefits extend beyond type 2 diabetes or cardiovascular disease. Genomics England is characterising genomes from the seven most common cancers in patients; a similar focus here would substantially improve our ability to diagnose and treat this deadly disease which kills thousands of people on the island of Ireland annually.

Genetic diseases that are unusually common in our population include cystic fibrosis, alpha 1 anti-trypsin deficiency and haemochromatosis. If all those suffering from these diseases in the Irish population were assembled in one place, they would fill Croke Park, but they would only represent the tip of the iceberg for the broader group of people in the population suffering from less-recognised genetic conditions, the diagnosis of which would be facilitated by a public genome project.

By applying genomic insights in the form of a genomic test designed for the Irish population, we can diagnose people with haemochromatosis before they damage their livers inadvertently by taking iron supplements or drinking alcohol beyond moderation, and can reveal who is likely to have adverse reactions to certain drugs.

Improving our ability to diagnose genetic disease will make an immediate, positive impact on the health of the Irish population.

Homogeneous

Ireland would be exceptionally suitable for a public genome project. Our population is unusually homogeneous, mostly descended from the relatively few pioneers who settled the island 10,000 years ago. The common haemochromatosis mutation, carried by one in five in the Irish population today, has been found in ancient corpses dating from the Bronze Age, vividly illustrating how we are linked today to this limited number of ancestors. Such relative homogeneity, also found in countries like Finland, makes the discovery of disease genes easier in the Irish population.

Once discovered in Ireland, these findings multiply in impact because of our very successful history in exporting our DNA by emigration.

Tens of millions of people world-wide have Irish ancestry. Irish genetic discoveries, therefore, have major international impact, and a public genome project would attract international genomics and pharmaceutical companies to Ireland, leveraging the public effort to develop therapies that would benefit people in Ireland and beyond our shores.

What should an Irish genome project look like? First of all, genes (and the diseases they cause when damaged) don’t respect borders. The use of the word “Irish” to describe this project should be used geographically to refer to the island of Ireland as a whole. We should start by sequencing the genomes of 10,000 individuals from the island, creating the foundation for new diagnostic tools, and attracting genomic and pharmaceutical companies to develop their own research programmes focused on our population.

Repay itself

With Ireland’s healthcare system over-burdened, it seems counter-intuitive to call for extra spending for something as exotic as medical genomics. It is, however, clear that this investment is likely to repay itself many times over, while improving medical care delivery and healthcare outcomes on the island of Ireland, with immediate impact.

Genomics is the new weapon available to us to combat disease and preserve health, while at the same time reducing healthcare costs and creating economic opportunities. Ireland needs to avail of this opportunity by undertaking an all-island, public genome project.

Gianpiero Cavalleri is associate professor of human genetics at the Royal College of Surgeons of Ireland and the SFI FutureNeuro Research Centre