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World of Genomics: Northern Ireland

In this week’s World of Genomics, we’re crossing the Irish Channel and taking a look at healthcare and genomics in Northern Ireland. This country’s scenic landscapes are known worldwide, with over a million visitors trekking to the Giant’s Causeway annually. The region’s natural beauty also attracts plenty of renowned television and filmmakers, hosting more Game of Thrones’ filming locations than any other country.

Small but mighty, Northern Ireland is no stranger to grand scientific endeavours. Renowned for its engineering prowess, Belfast was once a prominent shipbuilding city – famous for building the Titanic. But what does Northern Ireland have to offer when it comes to genomic medicine? Read on to find out!

Population of Northern Ireland

Northern Ireland is one of the four nations that make up the United Kingdom. It is situated in the northeast of the island of Ireland in the Atlantic Ocean, comprising around 27% of the population and 17% of the landmass. The Republic of Ireland is its only land neighbour, although at its narrowest point, the Irish Channel separates Northern Ireland and Scotland by only 13 miles.

The first settlers in the region are estimated to have arrived around 6,500 BC, likely from the not-too-distant British Isles. Centuries ago, Ireland was inhabited by the Gaels – a Celtic group who influenced much of Ireland’s language and culture. In the 12th Century, the island was conquered by the English. Ulster, the area now known as Northern Ireland, resisted the destruction of Celtic culture that was seen in the south. However, the 17th Century saw the immigration of many settlers from Great Britain, strengthening ties to the neighbouring nations.

The late 19th and early 20th Centuries saw many Irish natives push to end British rule over the region. Fiercely opposed by some, this unrest led to the partition of Ireland in 1920. Six Ulster counties remained under British rule, governed separately from their southern neighbours. However, this controversial separation was not accepted by all, and decades of conflict followed. The Good Friday Agreement of 1998 ended much of the civil unrest in the country, and today Northern Ireland shares an open border with Ireland.

Emigration far outweighs immigration to the country – something that was particularly prevalent in the wake of the potato famine in the 1840s – and individuals of Northern Irish ancestry are found all over the world, particularly in North America and other parts of the United Kingdom.

Geographic and Demographic Information:

Summary statistics

  • Land area: 14,130 km2
  • Gross domestic product (GDP):
    • Total: £47.37 billion (2020)
    • Per capita: £24,900 (2020)

Population statistics

  • Population size: 1.9 million (2021)
  • Birth rate: 11 per 1000 (2020)
  • Death rate: 8 per 1000 (2019)
  • Infant mortality rate: 4 per 1000 (2020)
  • Average life expectancy:  80.7 (2021)
    • Male: 78.8 (2021)
    • Female: 82.6 (2021)
  • Ethnicity: 96.6% White, 1.7% Asian, 0.6% Black, 0.1% Irish Traveller and 1.0% other.

Healthcare system

Healthcare in Northern Ireland is controlled by the Health and Social Care (HSC) service. Founded at the same time as the United Kingdom’s National Health Service (NHS) in 1948, the HSC is a separate yet similar body. As in Scotland and Wales, healthcare is devolved in Northern Ireland – meaning the Northern Irish Department for Health and the Public Health Agency are responsible for most health and social care decisions. The HSC is funded through taxation and provides free care to all citizens and permanent residents of Northern Ireland and the rest of the United Kingdom. Whilst the system covers most healthcare related costs, many people will incur charges for eye tests and dental care. Prescription medications are free-of-charge in Northern Ireland following the abolition of fees in 2010.

The primary point of contact for most health issues in Northern Ireland is an individual’s GP. In recent years, GPs in the country have become responsible for not only championing preventative care but also for minor procedures that would otherwise have been performed in a hospital. Referrals to most forms of secondary care must come through the GP. The number of primary care consultations increased by over 76% in the decade between 2004 and 2014 – on average an individual will seek an appointment with their GP or practice nurse 6.6 times per year.

Healthcare spending in Northern Ireland has continued to increase year on year. In the 2021-2022 fiscal year, over £7 billion was spent on health and social care – equating to around half of the Northern Irish Executive’s budget. However, overspending in certain areas led to inadequate care in others, and for the first time in over 20 years healthcare spending per person in Northern Ireland dropped to below that in England.

In recent years, the HSC has received criticism for underperformance, long wait times and a lack of staff. Outpatient treatments currently have a target wait time of one year, but in 2019 over 50% of patients were not seen within this timeframe. Similarly, over 80% of inpatient admissions missed a 13-week target – with 58% of patients waiting more than 52 weeks for treatment.

Healthcare priorities

The most common causes of death in Northern Ireland are cancer and circulatory diseases. However, obesity is becoming increasingly prevalent in Northern Ireland, with around a quarter of adults and a fifth of children falling into this category. To tackle this issue, the Department of Health has introduced measures such as healthier meals in schools and the ‘A Fitter Future For All’ framework. Initially launched in 2012, this initiative has been revisited over the years and was most recently revised to cover the three-year period between 2019-2022. The framework outlines how a decrease in the levels of obesity can be achieved on a nationwide scale by educating people on healthy choices, encouraging healthier meals and more physical activity.

Alcohol and substance misuse is another serious health priority in Northern Ireland. Over 16% of males and 10% of females report drinking at least three times per week. In 2021, Health Minister Robert Swann launched a 10-year drug and alcohol strategy to reduce the public health burden associated with substance misuse. The framework includes plans to reduce stigma around addiction, to encourage individuals to seek help and to educate people on the dangers of drug and alcohol addiction before it occurs.

In 2019, Ulster University laid out plans to improve mental health care in the country after it was revealed that the number of individuals waiting over a year for treatment was more than 24 times the equivalent number in England and Wales combined. At the time of the report, Northern Ireland was the only UK nation with no 10-year mental health strategy, despite around a fifth of adults suffering from a mental illness in some form.

With the country facing the problem of an ageing and increasingly unwell population, a 10-year Cancer Strategy was launched in 2022 to combat rising cancer cases. The strategy was created with a view to improve diagnostics and treatments. There is also an emphasis on prevention, through lifestyle and environmental changes. It is hoped that by 2032, earlier diagnoses will be standard and personalised treatments will be commonplace.

Genomic medicine capabilities

All pregnant individuals in Northern Ireland are entitled to prenatal testing for foetal abnormalities via ultrasound testing, provided free of charge through the HSC. However, if you wish to find out if your child is at higher risk of chromosomal abnormalities that lead to conditions such as Down’s or Edward’s syndrome, testing must typically be obtained privately. Follow-up care is primarily provided through the HSC.

Newborn genetic screening is provided free of charge for all infants within the first five days of life using a blood spot test. This test looks for a range of different genetic conditions including cystic fibrosis. Upon a positive result, treatment will be offered immediately through the HSC.

Northern Ireland has one regional genetics service that deals with requests for testing and genetic counselling. Patients can be referred to a genetic specialist by their primary care provider, for example if family history puts the individual at a higher risk of a disease such as cancer. In 2016, the Department of Health announced plans to implement testing for 11 genetic disorders that were not currently covered by the HSC.

No universities in Northern Ireland offer a dedicated genetic counselling course. However, individuals can qualify with an MSc in Genetic Counselling elsewhere in the UK or abroad, or can sometimes train within Northern Ireland through the NHS Scientific Training Programme. All genetic counsellors in the country must be registered with the Genetic Counsellor Registration Board, as in the rest of the UK.

Notable Projects

  • 100,000 Genomes Project: Northern Ireland contributed to Genomics England’s 100,000 Genomes Project, in a partnership that led to the foundation of the Northern Ireland Genomics Medicine Centre. This project aimed to understand how our genes affect our health and has led to the identification of variants involved in certain rare diseases and cancers.
  • The Northern Ireland Biobank: The Northern Ireland Biobank is housed at Queen’s University Belfast. It exists primarily to assist with cancer research and contains high quality tissue and blood samples from both patients and controls. All samples are linked to clinical information to allow for more informed research.
  • COVID-19 Variants Online Dashboard: Another project from Queen’s University Belfast, in early 2022 the University announced the launch of an online dashboard to track genetic variants of COVID-19 in the region. The project, which also involved the national Public Health Agency, was part of a push for accessible tools for genomic surveillance.
  • REDRESS: REDRESS is a partnership between UK and Irish researchers, led by Queen’s University Belfast, with an aim to address the lack of funding for rare disease research in Northern Ireland and the Republic of Ireland. The multidisciplinary network seeks to obtain funding in a variety of areas to improve the lives of those suffering from rare diseases.

Notable Organisations and Companies

  • Precision Medicine Centre: The Precision Medicine Centre is part of Queen’s University Belfast. Work at the centre integrates research, industry and healthcare with an aim to improve the field of precision medicine in Northern Ireland, provide genomic testing to patients and improve treatment outcomes. The centre already provides diagnostics for cancer patients.
  • Norther Ireland Genomic Medicine Centre: Founded in 2015, the centre was created after a £3.3 million investment to improve genomic medicine in Northern Ireland. Also part of Queen’s University Belfast, the centre aims to tackle the diagnosis and treatment of rare genetic disease.
  • Centre for Genomic Medicine: Based at Ulster University, the Centre for Genomic Medicine is home to over 200 researchers investigating a range of topics such as epigenetics, cancer and precision medicine. Over 3,000 peer-reviewed publications have come out of the centre.
  • The Belfast Experimental Cancer Medicine Centre: Another institute located at Queen’s University Belfast, the Experimental Cancer Medicine Centre is funded by Cancer Research UK. Researchers at the Centre work on a variety of topics including the identification of cancer-related biomarkers and the discovery of therapeutic targets.

Notable Individuals

  • Irwin Mclean: Irwin Mclean is a Northern Irish geneticist who currently holds the position of Emeritus Professor of Genetic Medicine at the University of Dundee, Scotland. His research focuses on genetic skin conditions. His work has earned him numerous awards and he was elected to the Royal Society in 2014.
  • David Patterson: David Patterson is a taxonomist, mostly known for his work on biodiversity informatics. His most famous work is that of the Encyclopaedia of Life, produced by the Marine Biological Laboratory in Wood Hole, Massachusetts. He was responsible for the informatics aspect of the project. He has worked in the USA and Australia, holding multiple esteemed positions such as Emeritus Professor and has published over 200 papers.
  • Amanda Black: Amanda Black is a successful Northern Irish epidemiologist. She is associate director of the National Cancer Institute’s Division of Epidemiology and Genetics in Maryland, USA and is responsible for the management of biological resources.
  • Amy Jayne McKnight: Amy Jayne McKnight is Professor of Epidemiology and Public Health at Queen’s University Belfast. She co-founded the Northern Ireland rare disease stakeholder group and was responsible for delivering reports on rare disease to the Northern Irish government.

Future Genomics Landscape

In February 2023, the Northern Irish Pubic Health Agency announced plans to integrate genomic sequencing into routine public health, learning from the lessons of the COVID-19 pandemic. Funding has been obtained from a COG-UK grant and should allow for the effective development and implementation of tools to perform routine genomic surveillance in the context of pathogen genomics.

This follows a 2022 announcement by Northern Ireland’s Health Minister of plans to progress the field of genomic medicine in a UK wide context. These plans outline framework to implement better genomic testing, rapid diagnosis and personalised treatments for patients by 2025. This complements the Northern Irish 10-year Cancer Strategy, which should lead to improved healthcare for cancer patients and those at risk, particularly through the use of genomics in diagnosis and treatment.

These plans, alongside the continued work of researchers at Northern Ireland’s excellent research institutions, prove that we haven’t seen the last of what this small country has to offer.


Northern Irish Government. Healthcare in Northern Ireland. Available at:

Northern trust. Health and Social Care in Northern Ireland. Available at:

Wikipedia. Heath and Social Care (Northern Ireland). Availablee at:

Economics Observatory. How can the Northern Irish Healthcare Be Fixed? Available at:

BBC. NI Health Review 2022. Available at:

Nuffield Trust. Future Funding and Current Productivity in Northern Ireland. Available at:

Northern Irish Government. Fitter Futures for All. Available at: