Genomics: Exploring new horizons

Founded in 2015, Genomics Medicine Ireland (GMI) is an Irish life sciences company engaged in large-scale, population-based genome research studies on the island of Ireland which are examining the relationship between genetics, health and disease.

Genomics is the study of the DNA contained in the cells of our body that acts as the blueprint for every human being. DNA research helps us understand our risk of developing certain diseases, predict a patient’s response to medications and other treatments, and can assist with the development of new treatments.

GMI is building a genomic database which will include data from about 10 per cent of the Irish population, including patients with various disease conditions and participants from the general population.

This information, linked to other environmental and lifestyle data, will be used to assist in the development of new diagnostic techniques and in understanding cell and system biology with the aim of discovering new and better disease treatments. The company has already enjoyed early success in establishing genomic research studies on the island of Ireland for a number of conditions including multiple sclerosis, Alzheimer’s, inflammatory bowel disease, ankylosing spondyliti and asthma.

One example of the power of genomics to deliver new treatments is cystic fibrosis. About 4 per cent of people living with this condition are affected by a mutation known as G551D, and a new genomics-based drug, Ivacaftor, has been developed that is very effective in individuals with this genetic mutation.

Another example of a new drug developed as a result of genomics medicine is Keytruda, which is used to treat melanoma and non-small-cell lung cancer.

New medicines and treatments are by no means the only application for this breakthrough technology, as Dr Patrick Buckley, director of the GMI Genomics Centre explains. “Currently, a lot of drugs have no effect,” he says. “The power that genomics gives us now is to target the right patients with the right drugs. This is enabling personalised or precision medicine.”

Startling

The statistics when it comes to the efficacy of drugs are quite startling. The number one drug in the US is only effective in 25 per cent of cases. This means 75 per cent of patients are receiving it unnecessarily. That’s not just bad news for the patients concerned, it means extra costs for health services.

On the other side of the coin is the programme being run by GMI with Temple Street Children’s University Hospital. “We are working with our Irish clinical and research partners and returning datasets from their patients for their own research initiatives,” says Buckley. “We have established a rare-disease research programme in conjunction with Temple Street which provides free access to whole genome sequencing to children and their families with undiagnosed disorders.”

This works by comparing the genomes of the child and the healthy parents and looking at the differences to try to spot the genes which may be responsible for the disease. “A genetic diagnosis can mean access to new or better treatments, more targeted and co-ordinated care and improved understanding of what the future may hold for the child,” Buckley adds.

This science does not come cheap. While the cost of whole genome sequencing has come down dramatically over the years – from $2.7 billion from the first human genome sequence to less than $1,000 today, the GMI project involving some 400,000 people on the island of Ireland will cost between €500 million and €700 million to complete when all aspects are taken into account.

“Our business is based on a public-private partnership model,” Buckley points out. “This is the norm for genomics research initiatives internationally as private sector involvement enables faster, more cost-effective, and actionable results. Our database is funded by pharmaceutical companies who will have a short period of exclusivity to develop new drugs and therapies. Our ultimate aim is to integrate the knowledge and insights we produce into the healthcare system with all the benefits that can deliver.”