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The growing role of genetics in healthcare highlighted

Human genes hold the key to unlocking new disease treatments and cures and we now have the technology to unlock that information in Ireland, the ISR 2018 Autumn Meeting heard.

Dr Jeff Gulcher, a neurologist and co-Founder of Genomics Medicine Ireland (GMI), gave a topical presentation on the role of genetics in healthcare.

GMI is a privately-funded Irish genomic studies company, with its own purpose-built genome sequencing laboratory in Dublin that is working in partnership with the medical community, patients, academic researchers and the global biotech and pharmaceutical sectors to obtain new insights to help with the development of new treatments and diagnostics across a spectrum of chronic health conditions for the people of Ireland and beyond.

It uses large gene-sequenced well-characterised cohorts for its work on drug target discovery and validation, and is currently recruiting 45,000 patients across seven diseases in a collaboration with AbbVie. Ireland’s population structure and relative homogeneity increases the power of gene discovery, he said.

Dr Gulcher highlighted some of the projects GMI is currently partnering on in Ireland, including one looking at the genomic basis of chronic respiratory conditions, such as asthma and asthma-COPD overlap (ACO), in collaboration with St Vincent’s University Hospital, Dublin, and University College Dublin (UCD).

Recently, the company announced its collaboration with the Department of Clinical Neurosciences at the University of Cambridge, UK, to expand GMI’s research examining the underlying genetic factors contributing to multiple sclerosis (MS).

The collaboration will leverage up to 15,000 DNA-extracted MS samples from a biobank the University has established. This large dataset, when combined with samples already being collated via GMI’s ongoing Irish cross-border MS research study, will result in one of the world’s largest MS-focused genomic studies ever conducted.

In the field of rheumatology, GMI is working in partnership with University Hospital Limerick on a landmark genomic study on ankylosing spondylitis and non-radiographic axial spondyloarthritis with the objective of identifying commonalities and linkages that can help diagnose the diseases early on, predict their severity, and suggest personalised treatments — or even a cure.

During his presentation, Dr Gulcher discussed the results of his own gene sequencing, and the particular risk factors and familial disease links his genome data uncovered. He explained how he had altered his lifestyle, losing weight, and became more active to offset his risk of diabetes as identified in his data, and was also aware of the importance of screening for particular cancers and diseases that he had a higher risk of developing.

He posited the health risk-prediction value of everyone having their genome sequenced, though privacy concerns and the potential for abuse of this data were raised by some audience members during the Q&A session.

Meanwhile, in the final presentation of the conference, Dr Lihi Eder, Assistant Professor of Medicine, University of Toronto, Canada, discussed cardio-metabolic diseases in psoriatic arthritis (PsA).

Quoting a number of studies, she said it is now known that PsA is associated with a much higher risk of cardiovascular (CV) events — over 40 per cent higher than the general population. She said this is likely due to a complex mix of traditional risk factors and systemic inflammation. Dr Eder said raising awareness of this particular risk in PsA patients is very important and they should be CV risk-stratified and screened where appropriate. She also noted that TNF inhibition (ie, suppressing inflammation) may be associated with a reduction of CV risk.

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