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World of Genomics: Ireland

Miyako Rogers 23 August 2022

Ireland, known in Irish as Éire, is famous for its rich heritage, traditions, Guinness, pubs and St. Patrick’s Day. Ireland has a relatively healthy population, and genetics is an established area of study at universities across the country. However, there are currently very few genetic counselling services in the country, and there are no national policies or strategies for genomic medicine.

The Population of Ireland

The Republic of Ireland borders Northern Ireland, the North Channel, the Irish Sea, the Atlantic Ocean and the Celtic Sea. Its landscape features low central plains and coastal highlands. Ireland has been inhabited for over 9,000 years. Vikings and Normans invaded numerous times, until the 12th century, when England claimed sovereignty over the island. Ireland resisted English rule for 400 years until it was fully under English control by 1607. In 1919 the Irish War of Independence began, which led to the creation of the Republic of Ireland and Northern Ireland, splitting the island in two. From the 1960s onward Northern Ireland experienced much civil unrest, which slowly subsided following the Good Friday Agreement in 1998. In 1973 the Republic of Ireland joined the European Union.

Figure 1 ¦ Map of Ireland

Ireland has experienced huge shifts in population size and demographics. The Great Famine of 1845 took roughly 1 million lives, and mass emigration following this caused the population to drop from 8 million to 4 million in just 80 years. As a result, the Irish diaspora is huge, with tens of millions claiming Irish ancestry across England, the United States, Canada and Australia. In the 1990s, increased economic strength and prosperity lead to large-scale immigration, and now around 10% of the population are foreign nationals.

Geographic and demographic information

Summary statistics

  • Land area: 2018 estimate: 68,890 sq km
  • Gross domestic product (GDP):
    • Total: 2021 estimate: 498.56 billion USD
    • Per capita: 99,152.1 USD

Population statistics

  • Population size: 2021 estimate: 5,028,230
  • Birth rate: 2020 estimate: 11 per 1000 people
  • Death rate: 2020 estimate: 6 per 1000 people
  • Infant mortality rate: 2020 estimate: 3 per 1000 people
  • Life expectancy: 2020 estimate: 82 years
    • Male 2020 estimate: 80 years
    • Female 2020 estimate: 84 years
  • Ethnicities: 2016 estimate: 84.5% Irish (White), 9.1% Other White, 1.9% Asian, 1.4% Black, 0.7% Irish Travellers, 0.9% Other, 1.6% Undeclared

Healthcare system

Healthcare in Ireland is delivered through public and private entities. All residents are entitled to care through publicly funded health care facilities, which are primarily funded through general taxation. Additionally, all maternity services, healthcare and childcare up to the age of 6 and healthcare over the age of 70 are provided free of charge. The Department of Health oversees policy planning, governance, health budget allocation and performance oversight of healthcare. The Health Service Executive is in charge of the management and delivery of publicly funded health and social care services, which includes public hospitals and community health organisers.

Healthcare coverage is not universal; the population is split into categories 1 and 2. Category 1 individuals qualify for medical cards, which give them free access to primary and hospital care and minimum dental care. Category 1 consists of about 32% of the population and is primarily determined on the basis of income. Category 2 individuals do not have medical cards, although a proportion have GP visit cards, which cover GP charges for all children under 6 and adults over 70; this makes up about 10% of the population. Another segment of the population part of the long-term illness scheme, which provides free medicines and appliances for individuals with certain chronic conditions. The rest of the population pay co-payments for primary and hospital care, GP visits, emergency care, prescription medicines and inpatient and outpatient services.

Almost half the population in Ireland pay for voluntary health insurance to obtain faster access to care via privately funded hospitals and healthcare services. This has created a de-facto two-tiered system, as public hospitals face a shortage of doctors and nurses, long wait times, and overcrowding. In 2019, with only 2.9 beds per 1000 people, over 100,000 patients had to wait for beds, and hospitals frequently ran at 95% occupancy rates even before the COVID-19 pandemic. In 2019, the proportion of expenses from voluntary health insurance schemes was 14%, the second highest in the EU, and almost three times higher than the EU average (5%).

Health Priorities

In comparison to other EU countries, Ireland does very well in avoiding deaths from treatable and preventable diseases. In 2019, 84% of the population reported being in good health, which is the highest in the EU. However, almost 3 in 10 individuals do suffer from a chronic condition, and over half over the age of 65 report having at least one chronic condition. Chronic conditions also affect lower-income individuals more, with 42% of individuals in the lowest income bracket experiencing one or more chronic conditions, compared to 17% in the highest income bracket.

In Ireland, behavioural risk factors such as smoking and lack of regular exercise are major drivers of disease and mortality, particularly for lung cancer and cardiovascular diseases such as ischemic heart disease. Ischemic heart disease is the leading cause of death in Ireland, accounting for 13.6% of all deaths in 2018. To tackle this issue, organisations such as the Irish Heart Foundation are helping with prevention by providing resources and education on lifestyle choices. The Sláintecare intervention fund is investing in community-based primary care centres for those with cardiovascular disease. These centres are making diagnosis, treatment, and routine care more easily accessible, and in 2021 reduced waiting times for heart disease diagnosis from 6 months to 6 weeks.

Cancer incidence in Ireland is higher than the EU average, and over 31,000 died from cancer in 2018. Among men, prostate cancer is the major cause of cancer (31%) followed by colorectal (13%) and lung cancer (11%). In women, it’s breast cancer (27%), followed by lung (13%) and colorectal cancer (10%). The National Cancer Strategy, run by the HSE, is focused on developing and coordinating a new survivorship care programme. The National Cancer Control Programme is working on cancer prevention by producing education resources such as the “Steps to reduce cancer risk poster” as well as running initiatives to reduce tobacco use with the “Quit Plan”. To address the specific symptoms and side effects of cancer in women, the Women’s Health Initiative is a new programme funded by the Irish Cancer Society and the HSE, providing dedicated clinics and specialist health support for female cancer survivors.

Genomic medicine capabilities

Clinical genomics is an established medical speciality in the Irish Healthcare system and genetics is a long-standing research discipline in Irish universities. However, there is no national genomics strategy or associated policies in Ireland.

At the time of writing, there are only 8 clinical genetics doctors working in Ireland, and the Clinical Genetics service at Our Lady’s Children Hospital Crumlin is the main provider of genetic counselling services in the country. Consequently, there is a huge strain on human resources in the genomic medicine space and wait times for non-urgent cases can be up to 24 months. The Clinical Genetics service has only been partially recognised by the EU Directive on patient’s rights, as the lack of resources mean that they cannot fulfil all the criteria laid out by the EU. Moreover, there are no resources devoted to training more clinical geneticists, and therefore Irish doctors have to travel abroad if they wish to specialise in this field.

Most genomic medicine is focused on informing precision medicine treatments for cancer, taking up about 30% of the speciality’s workload.  In the field of foetal medicine, antenatal Comparative Genomic Hybridisation (CGH) array is offered, however there is no genetic counselling available due to a lack of capacity.

Genuity Science Ireland was previously known as Genomics Medicine Ireland, a state-backed private company that in 2020 declared a 38 million EUR loss. Genuity Science Ireland is currently leading a programme to gather genetic information on 10% of the population. However, this genetic information is not planned for use in public health policy or for health services; it’s planned to be used for private research. This situation highlights how in Ireland the lack of a national genomics strategy means there is no formal relationship between private genomics companies and public research and healthcare sectors. As a result, there is no defined role for commercial entities in the genomics space.

Notable projects

  • Biobank Ireland Trust: Founded in 2004 to develop an Irish Biobank network. Currently coordinated by St.James’s Hospital.
  • Target 5000: A multi-omics study for the diagnosis, investigation and management of inherited retinal degenerations at Trinity College Dublin.

Notable organisations and companies

Notable individuals

  • John F Atkins: Research Professor at University College Cork and Honorary Professor of Genetics at Trinity College Dublin. Atkins is renowned for showing that mRNA molecules are not always translated in a triplet manner, and for his work on recoding. His research into protein-free RNA-based life forms gained him the honour of being having the family of RNA bacteriophages Atkinsviridae being named after him.
  • William Reardon: Former Lead Clinician and Head of Department of Clinical Genetics at Children’s Health Ireland, and consulting clinical geneticist at the National Maternity Hospital and Blackrock Clinic. He is also a member of the British Society of Genomic Medicine, the Clinical Genetics Society, the American Society of Human Genetics.
  • Jackie Turner: Genetic counsellor running an ophthalmology-specific clinical genetics programme for individuals and families affected by rare genetic retinal diseases. This programme is supported by the charity Fighting Blindness.
  • James O’Byrne: Associative Clinical Professor at University College Dublin, and Consultant Clinical Geneticist. He is also involved in the Fighting Blindness clinical genetics programme.
  • Andrew Greene: Former Director of National Centre for Medical Genetics, Our Lady’s Hospital, Crumlin, and Professor of Medical Genetics at University College Dublin.
  • David Gallagher: Consultant Oncologist Geneticist and clinical professor of medicine at Trinity College Dublin:

The future genomics landscape

In 2020, genomics researchers, clinical geneticists, and companies involved in the genomics space wrote an open letter, with a series of recommendations to create a regulatory framework to help realise the potential of genomic medicine in Ireland.

The recommendations outlined the need for a national policy to establish clinical genomics services and coordinate genomics research across different sectors. A national policy should also focus on creating equitable access to genomic medicine across the Irish population. Equal access to healthcare is a major problem in Ireland, and the Sláintecare reform is a 10-year program that aims to establish universal healthcare across Ireland. Incorporating clinical genomics and giving it a defined role in Sláintecare would help bring about this change.

However, exciting things are on the horizon! On May 12th 2022, HSE announced their intention to develop a National Genetic and Genomic Strategy for Ireland, and held the first meeting of the newly set-up HSE National Genetic and Genomic Steering Group. This strategy will layout the funding and resources needed to establish future genomics medicine initiatives, develop infrastructure, data strategies, policies, workforce training and recruitment, clinical innovation and more.

Dr Colm Henry, HSE Chief Clinical Officer said, “A number of previous reviews have shown that there is a large and increasing disparity between genomic medicine services offered in Ireland and internationally, and Medical Genetics in Ireland is under-resourced for both clinical and laboratory services. As a result, patients here do not currently have timely access to genetic opinions or to genetic testing, resulting in delays in diagnosis, treatments, and interventions. This new strategy will allow our health service to tackle these shortcomings and realise the benefit of genomic medicine for patients in Ireland.”

References

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