Health Minister announces new innovative era of treatment for rare diseases

Date published: 29 October 2015

Health Minister Simon Hamilton has announced £3.3m investment to create a Northern Ireland Genomics Medicine Centre that will provide rare disease patients with a much earlier and more accurate diagnosis.

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It is estimated that one in seventeen people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases of rare diseases being identified in children.  This investment will lessen the uncertainty and anxiety associated with not having a diagnosis for patients and their families, enabling the faster provision of appropriate treatment and care when a diagnosis is made.

The ongoing treatment and care of cancer patients, taking part in this programme, will be informed by information about their own genome.  Improved treatment for future patients with cancer is also expected to increase as a result of this initiative.

Minister Hamilton said; “The creation of the NIGMC is one of the first actions in the Northern Ireland Rare Diseases Implementation Plan that I have launched today with an additional commitment of £70,000 investment to progress other key actions in the Plan.

“The Plan embodies my commitment to implement the UK Rare Diseases Strategy in Northern Ireland. It provides a holistic approach to caring for people with a rare disease and to maximise the available resources for research, innovation and collaboration across the UK to benefit the entire rare disease community. The Plan also provides the opportunity to work with the Republic of Ireland to realise the mutual benefits of cross-border collaboration on rare diseases.

“The NI GMC will bring together health, academia, industry and patients placing Northern Ireland, as part of the UK GMC network, at the forefront of medical innovation by sequencing genomes on an unprecedented scale, bringing better treatments to patients with cancer and rare disease.


“I welcome this partnership with NHS England, Genomics England Limited and the contribution of £750,000 funding for the NI GMC from the UK Medical Research Council. The Northern Ireland Executive is providing the remaining £2.5million investment in the GMC.”

Dr Nathan Richardson, head of molecular and cellular medicine at the Medical Research Council, said: “This is an exciting opportunity to establish a strong partnership between Northern Ireland and England in genomic medicine. These joint investments will help establish a centre of excellence in genomic medicine in Northern Ireland and will support the UK-wide ambitions to reap the benefits for patients from whole genome sequencing research and linkage to NHS data.”

Dr Shane McKee, chair of the NI GMC leadership group, said: “We are excited and delighted to be part of this important initiative. We welcome the Minister’s commitment to ensuring that our patients can benefit from – and participate in – the scientific advances that are coming directly from research into genes and genomes. In Northern Ireland we have a proven track record in rare disease and cancer diagnostics, and we already lead the UK in delivering vital health information to the point of care. Now the challenge is to turn clinical and genetic information into improved treatment and management.

Our participation in the 100,000 Genomes Initiative via the NI Genomic Medicine Centre will allow us to rapidly set up an infrastructure to deliver on these goals. The challenge will be to build an enduring legacy where patients, families, health professionals and researchers can create personalised precision care pathways that improve lives, enhance research, and support the wider community.”

Christine Collins, chair of the NI Rare Diseases Partnership said: "The Northern Ireland Rare Disease Partnership welcomes the publication of Northern Ireland’s Rare Disease Plan. The plan for the foundation of a Genomics Medicine Centre here in NI is especially exciting.

“The Centre brings hope and an opportunity to participate in building a better future for all families living with a rare disease; a superb new resource for the clinicians working to give them a diagnosis and improve understanding of their conditions; and clarity and impetus for those working to create new pathways for treatment and management.   

“Northern Ireland has so much to contribute, as well as so much to gain, from these developments. Working together, we can reap the full benefits from these initiatives; and provide better opportunities for all our young people and families into the future."

Professor Mark Caulfield, Chief Scientist of Genomics England said; “I am absolutely delighted that Northern Ireland are the first devolved nation to join the 100,000 Genomes Project. This funding by the NI administration and the MRC opens the opportunity of equity of access to genomic medicine for people across the province with rare disease, cancer and infection.”

Notes to editors: 

1. The Northern Ireland Genomics Medicine Centre (NI GMC) is a regional initiative to be based in the Belfast Health and Social Care Trust. The NI GMC’s leadership group includes clinical, research, policy and health and social care representatives from Queen’s University Belfast, the University of Ulster, Health and Social Care Board, Public Health Agency, Northern Ireland Pathology Network and the Department of Health, Social Services and Public Safety. Its membership will be widened to include industry representatives.

2. The NI GMC will start its work later this year. The initial funding for this initiative is for the period up to 2018 to: submit 1700 rare disease and cancer samples to Genomics England Limited for Whole Genome Sequencing; produce an earlier diagnosis for 25% of participating patients with inherited rare disease; and, provide additional clinically relevant information as a result of whole genome sequencing that will enhance an understanding of disease in 20% of participating patients with cancer.

3. Genomics England is a wholly owned company of the Department of Health and was set up to deliver the 100,000 Genomes Project.  This flagship project will sequence 100,000 whole genomes from NHS patients and their families working in partnership with regional Genomic Medicine Centres across the UK.

4. Genomics England will create a dataset of anonymised whole genome sequences matched with clinical data at a scale unique in the world. Participating patients will have the opportunity to benefit from clinical insights derived from the sequencing of their genome while at the same time contributing to knowledge which will be valuable to the whole patient community. It is from that knowledge that world leading therapeutic products and processes will become available to all patients.

5. The Northern Ireland Rare Diseases Implementation Plan has been produced by DHSSPS working with representatives from Health and Social Care, Queen’s University Belfast, University of Ulster and the Northern Ireland Rare Disease Partnership. The plan identifies a range of actions to be taken forward in Northern Ireland during the period 2015-2021 in respect of the 51 Commitments in the UK Rare Diseases Strategy that the Health Departments from the four UK countries endorsed in 2013.  These Commitments are set out under five key themes in the UK Strategy. The Northern Ireland Plan has a sixth theme, setting out a commitment to work with the health authorities in the Republic of Ireland to realise the mutual benefits of cross-border collaboration on rare diseases.

6. Media enquiries about this press release to DHSSPS Press Office on 028 9052 0575, or out of office hours contact to Duty Press Officer via pager number 07699 715440 and your call will be returned. Follow us on Twitter @healthdpt

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