The HSE launched the First National Genetics and Genomics Strategy for Ireland on Tuesday 13th December. The strategy outlines the planned development of an enhanced patient and family-centred genetic and genomic service that will be coordinated nationally. A press release and further details are available at the above link.

Dr Mark Bale, Advisor and Lead for the National Strategy for Genetics and Genomics for Ireland, gave a keynote talk from at ISHG 2022 in September on “An update on The National Genetics and Genomics Strategy for Ireland”. It’s great to now see the project moving forward and to see details on the strategy emerging. Speaking at the launch, Dr Bale said “In the development of this strategy, we’ve noted examples of excellence in genetics and genomics evident throughout the country. However, because of the collective, invaluable contributions of over 100 experts, healthcare professionals, advocates and patient representatives, Ireland now has a comprehensive strategy. This provides a way forward for progressing this exciting field of medicine to improve citizen health and wellbeing whilst advancing research, innovation, and discovery. I have every confidence that Ireland will rise to this occasion, beginning with implementation in early 2023.”

More on the strategy, including a 76 page report, are available at https://www.hse.ie/eng/about/who/strategic-programmes-office-overview/national-strategy-for-accelerating-genetic-and-genomic-medicine-in-ireland/

Our 25th annual conference took place on the 16th September in the Radisson Blu Hotel, Golden Lane, Christchurch, Dublin 2.

The meeting had 129 registrations and was hugely successful. After a welcome from our Chairperson Jackie Turner we had an address from Dr Mark Bale, Advisor and Lead for the National Strategy for Genetics and Genomics for Ireland who provided “An update on The National Genetics and Genomics Strategy for Ireland”. We also had an update from the IPPOSI Citizen Jury on Genetics and Genomics before the keynote talk from Prof Nicola Whiffin on “Interpreting variation in the non-coding genome”. Sequencing the coding regions only misses the impact of regions that play regulatory roles.

After coffee 5 speakers presented in our clinical plenary which took us to lunch and poster viewing. An impressive sponsored lecture from Accuscience on their FlowBot (wit a demo model on site!) followed before the keynote from Prof Lorna Harries on “Dysregulated alternative splicing – a new (and druggable) hallmark of ageing”. Unsurprisingly this talk generated a lot of excitement as Prof Harries was able to demonstrate new understandings in the ageing process, with the promise of interventions to increase “healthspan”.

Our basic research plenary followed before our final keynote from Prof Dan Bradley who gave us history and genetics on a tour of ancient Ireland as informed through ancient DNA. Honorary membership was then deservedly bestowed on Prof David McConnell who entertained everyone with his look back on the research genetics community in Ireland.

There was a warm reception for the two Secondary Student Essay Prizes:

  • First Prize: Amy Deng – Institute of Education, Leeson Street
  • Second Prize: Eoghan Strain – Scoil Mhuire Buncrana, Co. Donegal

The conference concluded with the announcement of the best presentations listed below. The oral presentations were voted on by all attendees and the poster prizes were judged by the ISHG committee.

Prizes 2022

  • Best Postdoctoral Oral Presentation: “AAV-delivered gene therapy for dry AMD provides benefit in murine and cellular models” presented by Dr. Sophia Millington-Ward. Prize of €150 cash & Registration fees for the ESHG 2023
  • Best Postgraduate Oral Presentation: “Methylome profiling of young adults with depression in Ireland” presented by Amy Louise Doherty. Prize of €150 cash, & travel scholarship to ESHG 2023.
  • Best Postdoctoral Poster: “Therapeutic potential of AAV-ophNdi1 for the treatment of neurodegenerative disease”  presented by Dr. Naomi Chadderton. Prize of Registration fees for ESHG 2023.
  • Best Postgraduate Poster: “Folic acid intervention during pregnancy alters DNA methylation, affecting neural target genes through two distinct mechanisms” presented by Luke Hilman. Prize of Registration fees for ESHG 2023.
  • Young Investigator Award Rebecca Mahoney. Prize of €150 cash prize & travel scholarship to 2023 ESHG meeting.

The National Genetics and Genomics Strategy is to be published by end of this year.

On Friday, 30th September 2022, as part of the development of the National Strategy for Genetics and Genomics, the HSE hosted a Town Hall event at the Royal College of Physicians of Ireland, attended by Minister for Health, Stephen Donnelly TD. Minister Donnelly said: “I welcome the opportunity to attend the National Genetics and Genomics Strategy Town Hall. Genomics has the potential to transform healthcare provision, allowing for a more cost-effective healthcare system that delivers better patient outcomes. As part of the Programme for Government we made a commitment to genomics and the €2.7million in funding that we have secured for the implementation of this Strategy is a testament to the work achieved to date. I look forward to the publication of this Strategy.”

The development of the National Genetics and Genomics Strategy has been underway since May this year. An expert Steering Group chaired by Dr Mark Bale (who gave the first keynote talk at the ISHG Conference this year), former Genomics Advisor to the UK Department of Health, and including representatives from a range of clinical specialities in Ireland, academic and patient representatives, and international experts in the area of genetics and genomics is leading the development of the strategy. This work is a priority of HSE Chief Clinical Officer, Dr Colm Henry, and is led by the Strategic Programmes Office of the CCO.

The National Strategy, which will be published by the end of this year, will define what actions and resources are needed so that the HSE can develop a genomic service for Ireland that will improve health outcomes, drive down the cost of care, and fuel scientific innovation and discovery.

*** The above text is taken from the HSE Press Release. *** See there for further information on the Town Hall event.

See the National Strategy for Genetics and Genomics in Ireland website for details including its purpose, principles, objectives, a timeline and other details.

The African Society for Human Genetics has partnered with the SFI Centre for Research Training in Genomics Data Science on a publicly available webinar series that will take place from the 14-18th November 2022. 

Please see below for details. The zoom link to register is https://zoom.us/meeting/register/tJUlceGtrDwtG9yyi_Ow7CHLf3r12Cb6GHk1

African Genomics webinar flyer

The Health Research Data Protection Network (HRDPN) is a Network of data protection professionals from Universities, Hospitals, the HSE, NCTO, and not-for-profit Research Organisation/Networks.

The HRDPN has published a Practical Guide on Data Protection for Health Researchers.

This Practical Guide (“the Guide”) is intended to provide general information and understanding of the law to researches to help them understand with plain non-legal language their and their organisation’s role with regard to Data Protection, as well as related responsibilities and requirements.

The guide is available on the useful resources page of the National Clinical Trials Office website: https://ncto.ie/events-news/usefulresources/

Read the latest report of the IHRF on Health Reseach.
Their conclusions will be music to your ears!

The ISHG is pleased to share the recently published HRCI publication ‘Using data for better health research’

Winners of the 2021 National DNA Day Schools Essay Writing Competition, and details of the 2022 Competition.

Our 24th National conference again took place online this year. Our conference was really well received, our delegates particularly enjoyed the lunchtime discussion (for and against) reporting secondary findings (when found in a diagnostic laboratory) between Prof Gianpierro Cavalleri and Dr Lisa Bradley.