A recent international workshop hosted by the Mater Hospital aimed to address educational gaps in genomic medicine. David Lynch reports
In April, the Mater Misericordiae University Hospital in Dublin hosted the European Society of Human Genetics’ (ESHG) precision genomic medicine workshop.
The hybrid event had a focus on clinical utility. It was described by organisers as the first of its kind “in scale and scope globally”.
The workshop emerged through a collaboration between the Mater, the ESHG, the Human Genomic Society of Australasia, and the Canadian College of Medical Geneticists.
Speaking to the Medical Independent (MI), Dr James O’Byrne, Consultant Clinical Geneticist at the Mater Hospital, said the workshop’s aim was to provide practical education.
With the field of genomics making significant strides in recent years, an educational gap has emerged in its clinical use across medicine.
“This is the reason why [the workshop] is important and the reason why the three major genetics societies have come together for the first time to do this,” Dr O’Byrne told MI.
“Because there is a recognition that there needs to be a general upskilling of healthcare staff in the application of genetics and genomics in clinical practice.
“This is because, essentially, the technology that has developed to allow for genomics to be used in healthcare has pushed genomics into healthcare in a way that it can’t be ignored.”
Dr O’Byrne said these developments have caught many people working in medicine “by surprise”.
He added that too few healthcare professionals currently have the skills and knowledge to apply genomic technology in “an efficient, effective, and safe way”.
The lack of adequate education to support the implementation of these medical advances remains a significant challenge.
“Because the promise is huge around this,” said Dr O’Byrne, “but you have to know how to do it properly.”
He said it was vital for all healthcare staff – not just consultants but “the support staff around them” – to be informed about genomic advances.
“There has to be a general upskilling across the world.”
International
The workshop welcomed speakers and attendees from 54 countries. The participants included educators and experts in the field of precision medicine from multiple clinical and academic institutions, including Ireland.
According to the organisers, the workshop provided up-to-date practical knowledge of the area and equipped the attendees with the basic principles of precision medicine.
Speakers included Dr Leslie Biesecker, Director of the Centre for Precision Health Research at the National Institutes of Health’s National Human Genome Research Institute, US.
Dr John McDermott, Clinical Geneticist and National Institute for Health and Care Research Academic Clinical Lecturer, University of Manchester, UK, spoke on the everyday application of genomics in healthcare.
According to Dr O’Byrne, genomics is now being applied in “different shapes and forms” across healthcare.
“It’s not just about making a diagnosis in a patient or a family – it is also the different gene-related therapies that have come in – there are multiple strands to it and they are all interconnected… the bottom unifier is that someone is looking at the person’s DNA information.”
He added that much of this progress has only taken place over the “last 20 to 30 years”.
“There are gene therapies that are coming through now that we would have [only] talked about in the 1990s… we didn’t really see them until very recently.”
The workshop was designed to equip attendees with a broad understanding of key aspects of precision genomic medicine, including both current and emerging applications in germline and somatic contexts.
Participants learned how to build an effective, balanced multi-disciplinary clinic involving both laboratory and clinical experts. They also discussed gene- and genotype-driven therapies that are now becoming available in clinical practice. Ethical considerations and the role of new technologies, such as artificial intelligence, were also central themes throughout the workshop.
According to organisers, modern healthcare increasingly enables clinicians and scientists to make accurate diagnoses and offer targeted therapies based on well-defined, biologically informed disease subtypes. These approaches take into account individual differences in genetic makeup, behaviour, culture, lifestyle, and environmental factors.
Recent advances in science and technology – particularly in genomics – have generated new insights into the foundations of health and disease, ushering in a new era of medicine.
“It is often likened to the Wright brothers’ first flight in 1903 and then landing on the moon 66 years later,” said Dr O’Byrne, about the scale of recent progress.
From the completion of the Human Genome Project in 2003 to the development of next-generation sequencing – which has enabled “massive parallel sequencing” – the technology has become “a lot quicker and also a lot cheaper”.
Rather than costing billions of US dollars, sequencing a genome can now cost under a thousand dollars, with some now aiming for a ‘hundred-dollar genome’.
Timeframes have also shifted significantly, with processes that once took years now achievable in a matter of hours.
National strategy
On a policy level in Ireland, there have been recent publications and developments in the area.
The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland was published in December 2022. The National Genetics and Genomics Office (NGGO) was established in 2023 to drive the implementation of the strategy.
The NGGO has the stated aim of improving Ireland’s genetic and genomic medicine services.
Earlier this year, HSE National Doctors Training and Planning (NDTP) published a report entitled Clinical Genetics Medical Workforce in Ireland 2024-2038.
According to the document, as of July 2024, there were eight consultants employed within the HSE as consultants in clinical genetics.
These consultants all work full-time, with four expected to reach retirement age in the next 10 years.
The majority of this workforce are based in the Department of Clinical Genetics in Children’s Health Ireland (CHI) in Dublin.
The report also highlighted that cancer genetics services are provided at St James’s Hospital in Dublin by consultant medical oncologists with expertise in genetics. However, these roles fall outside the scope of the NDTP report, which focused solely on consultants in clinical genetics.
According to the report, the current staffing level amounts to roughly 0.15 whole-time equivalent (WTE) consultants per 100,000 people – half the recommended minimum of 0.3 per 100,000 set by international guidelines.
Based on 2024 population figures, the report estimates a need for 16 WTE consultants in clinical genetics, rising to 18 WTE by 2038.
For more information about the precision genomic medicine workshop, visit: www.mater.ie/healthcare-professionals/eshg-precision-medicine/
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