The Northern Ireland Genomic Medicine Centre

Lead Research Organisation: Belfast Health and Social Care Trust

Abstract

The genome is the complete set of genetic material in each of the cells of our body, inherited from our parents. Sometimes, changes (mutations) happen that cause disease. If someone has a disease, it’s now possible and affordable to read their genome to see if it might be caused by a mutation. If it has, scientists can use that information to understand the disease better, and perhaps one day treat or cure it. The UK's Department of Health (DH) set up its own company called Genomics England (GeL) to sequence the genomes of consenting families or individuals who suffer from rare genetic diseases and cancers. GeL has £100m from DH England to sequence 100,000 genomes. The MRC wants to work with the Devolved Governments of Northern Ireland, Scotland and Wales to help to develop in genome sequencing too, and to contribute to the 100,000 genomes project through GeL. We hope to help build a UK-wide partnership that can deliver better and faster results for patients.
This £750,000 award is the MRC’s investment in the Northern Ireland Partnership, managed by the Northern Ireland Genomic Medicine Centre (NI GeMeC). It partners funding of £2.3m from the Northern Ireland Government. Together, funds will be used to sequence 1,300 genomes of people with rare diseases (and often also their families).

Technical Summary

The overall vision of the NI GeMeC is to bring benefit to patients through improved diagnosis, together with improved understanding of rare diseases and specific cancers by analysing unique prospective sample collections available in NI. By doing so, we will contribute to the development of a UK-wide resource of linked genomic, phenotypic and health record information that would be a key asset driving patient care and directing key research programmes at a local, national and international level. It will harness and enhance existing regional capability in genomic medicine and research, building the capacity of Northern Ireland Health & Social Care (HSC), Universities and Industry to translate research into patient benefits, through active participation in the UK 100,000 Genomes Initiative and beyond.

Publications

10 25 50
 
Description Dept of Health Rare Disease Metrics Task and Finish Group for the UK Rare Disease Research Strategy
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description Engagement with NI Department of Health - Genomic Medicien Governance, Policy & Strategy Development
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Gave evidence to a government review
 
Description Genome UK The Future of healthcare Strategy published October 2020
Geographic Reach National 
Policy Influence Type Participation in a national consultation
 
Description Member of Northern Ireland Rare Disease Stakeholder Group
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
Impact This workgroup developed the NI statement of intent and Rare Disease Implementation Plan, of which a key component was NI's participation in 100 KGP. We are working on delivering the goals of our NIRDIP, for example by introducing rare disease teaching to undergraduate medical, science and nursing students, alongside holding multiple CPD training courses for postgraduates. .
URL https://www.health-ni.gov.uk/publications/northern-ireland-implementation-plan-rare-diseases
 
Description Personal and Public Involvement invited meeting with HSC Expert Panel
Geographic Reach National 
Policy Influence Type Gave evidence to a government review
Impact A new policy has been developed to promote personal and public involvement by our NI public health agency.
 
Description Research for Better Health and Social Care - Implementation Workshop
Geographic Reach National 
Policy Influence Type Participation in a national consultation
 
Description UK Devolved Nations Genomics Group
Geographic Reach National 
Policy Influence Type Participation in a advisory committee
Impact Improvement in planning for diagnostics of Rare Diseases, leading to better access to treatments, prenatal diagnosis, preimplantation diagnosis, etc.
 
Description Dept of Health (NI) funding for NI GMC
Amount £2,700,000 (GBP)
Organisation Government of Northern Ireland 
Department Department of Health
Sector Public
Country United Kingdom
Start 03/2016 
 
Description Collaboration with Geisinger on new developments in communicating and delivering next generation genomic analysis for disease 
Organisation Geisinger Health System
Country United States 
Sector Hospitals 
PI Contribution I visited the Geisinger to see how their highly automated systems are implemented and discussed options with Regeneron for further molecular analyses. I've delivered multiple talks at their sites, including at medical grand rounds. We have several joint projects running focused on molecular analyses, computer-based prediction systems based on electronic healthcare records for rare diseases, and public perceptions of genomics.
Collaborator Contribution Geisinger brings a range of expertise including large genomic resources linked to electronic healthcare systems, an easily accessible population for qualitative research, and significant expertise of clinical-academic researchers.
Impact This collaboration has led to three funding applications (two successful, one pending) with an application to MRC planned for later this year (ethical approval pending).
Start Year 2016
 
Description Collaboration with Genomics England Ltd 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution We are working with GEL on multiple aspects of the 100,000 Genomes Project, including patient recruitment, phenotyping, sample processing and genome sequencing. Dr Shane McKee sits on the GEL Scientific Programme Committee.
Collaborator Contribution Partners are supplying phenotype information and recruiting patients to the 100KGP, as well as developing systems that are workable in the real world.
Impact Presentation from Devolved Nations at British Society for Genetic Medicine, October 2017. Representation on Scientific Advisory Committee for 100KGP. Recruitment of subjects complete (end of 2018); results coming through (2019).
Start Year 2015
 
Description DDD Study 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution The NIGMC programme is subsuming work already carried out (and ongoing) through the DDDUK Study, based at the Wellcome Trust Sanger Institute in Cambridge. The DDD Study is returning genomic results to the NI Regional Genetics Service, and we are using these to pump-prime and test our genomic reporting systems as well as patient feedback and consent modelling. We have recruited over 700 families to DDDUK, with results back on approx 50% of these. In addition we have obtained detailed phenotypic information coded using HPO terminology, providing a valuable resource for investigating rare diseases in our population. The work done - and ongoing - via the DDD Project continues to contribute to the NI Genomic Medicine Centre project, including analysis of variants, feedback to DDD itself, the use of the DECIPHER platform for clinical staging of cases. NOTE: Although this collaboration started before the current Award, activities relating to the DDDUK partnership have been aligned to the 100,000 Genomes activity stream, and thus are highly relevant to this Award.
Collaborator Contribution Our partners in the other Regional Genetics Services are engaged in similar activities, and we work closely with all of them to delineate rare syndromes and improve reporting and investigation.
Impact Consent modelling; Sample collection Phenotyping Patient data-set completion Patient recruitment in live clinical scenarios Communication with patients & families Result validation Result feedback
Start Year 2010
 
Description Memership NHS Englang Genomic Medicine Service Working Group 
Organisation NHS England
Country United Kingdom 
Sector Public 
PI Contribution Clinical and Scientific experts from Northern Ireland have joined NHS England Genomic Test Evaluation Working Groups for Rare and Inherited Diseases, Cancer and Pharmacogenomics. Scientific experts have also joined NHS England Reporting and Interpretation Working group.
Collaborator Contribution Working groups have members from all four UK nations which work together to develop a National approach to Genomic testing, reporting and interpreting.
Impact NHS England published a National Test Directory December 2020.
Start Year 2020
 
Title Open Platform for Genomics 
Description We are working with partners in industry to establish an Open Platform based on the OpenEHR standards to facilitate recruitment and phenotyping for the 100,000 Genomes Project. The product chosen for the base platform is Think!EHR from Marand (sourced via eHealthLinks), and the front-end/user-facing interface is GENIE (supplied by University Hospital Birmingham). This architecture will allow us to gather data from our consenting patients, and synchronise that with the Genomics England Ltd data warehouse, greatly enhancing the ability to generate genetic results from genomic data. UPDATE MARCH 2019: This project is progressing, and subject to funding being identified, is planned to commence with a Purchase Order to be signed in April 2019. This is structured as a capital delivery programme; the Delivery Partner is CAMBIO Ltd, and additional Partners are University Hospitals Birmingham (GeNIE interface), Marand Software (Think!EHR platform), Jon Reed, Kathy Farndon and Mark Thornton working as part of the team assembled by CAMBIO to deliver the overall project. 
Type Of Technology e-Business Platform 
Year Produced 2018 
Impact This will be Northern Ireland's first OpenEHR implementation, and will have a significant impact on other projects in the region. 
 
Description ACBI - Potential, Reality and Promise of the 100K Human Genome Project 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited talk delivered at the 39th ACBI Annual Conference 2016: Association of Clinical Biochemists in Ireland, where the audience were interested to learn about 100 KGP developments and our local implementation, capacity building, and training plans.
Year(s) Of Engagement Activity 2016
URL http://www.acbi.ie/Article.asp?pID=255
 
Description Accessing rare disease drugs in NI - Translarna managed access 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact BBC1 news interview having successfully campaigned to have rare disease drugs available in NI. This was agreed under a managed access agreement for Translarna (ataluren) and Vimizin as the first two rare disease drugs available in NI and paved the way for later drugs to be made available. This also led to an ongoing project (funded by pharma) co-developing with clinicians, patients, families, carers, allied healthcare professionals, academia and industry a training module for patients around orphan drug logistics in NI.
Year(s) Of Engagement Activity 2016
 
Description All Ireland Duchenne Muscular Dystrophy Research & Information Day 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Engagement event primarily aimed at patients, families and carers; Co-hosted by Karen McKevitt MLA & Dr Amy Jayne McKnight
Year(s) Of Engagement Activity 2012,2016
 
Description All Ireland Rare Disease Day annual conference (including world birth defects day conference) 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Policymakers/politicians
Results and Impact Annual rare disease day conference open to the general public; the audience mostly includes policy makers, politicians and practitioners, with patients next represented and good industrial representation. University students (under/post grad) typically present poster abstracts, which are made available through OSF with DOIs. There is usually local media coverage of the event, which results in lots of enquiries about rare disease developments in NI.
Year(s) Of Engagement Activity 2016,2017,2018
 
Description B1MG UK Country Visit 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact UK discussion on different areas of development underway to support the NHS Genomic Medicine Service Developments
Year(s) Of Engagement Activity 2021
 
Description Behçet's Disease Conference 2016 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact This conference was used as an exemplar for raising awareness of rare diseases. NI has a much higher incidence of Behcet's disease than reported in the rest of the UK, but this disease is challenging to diagnose (typically by exclusion) and many individuals attending learned about the event through local press announcements / pre-coverage. We realised that many individuals living with rare diseases do not have an opportunity to network with others living with similar challenges and are not aware of local events.
Year(s) Of Engagement Activity 2016
 
Description Hosting all Ireland rare disease day annual conference 2020 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact ,
Year(s) Of Engagement Activity 2020
URL https://www.qub.ac.uk/sites/RareDisease/Events/RareDiseaseDay2020.html
 
Description Joint NI / Ireland Rare Disease Day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Presentation (Dr Shane McKee) on "What a difference a genome makes" to joint North-South Rare Disease Day in Belfast, 28 Feb 2020. Discussion focused on outcomes from the 100,000 Genomes Project (the main subject of this Award), and the changes to patient pathways resulting from "front-loading" the diagnostic process with genome data. The aim is to avoid the "Diagnostic Odyssey" that many patients go through, and this objective has been considerably enhanced by NI's participation in the UK 100,000 Genomes Project, facilitated by this Award and by the NI Department of Health.
Year(s) Of Engagement Activity 2020
URL https://www.rarediseaseday.org/event/united-kingdom/328
 
Description NI Genomic Medicine Centre - talk to patient groups 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Patients, carers and/or patient groups
Results and Impact Update on the NI genomic medicine centre (launched 2015) and recruitment for 100 KGP delivered to primarily patients, families and carers.
Year(s) Of Engagement Activity 2016
 
Description Participation in Rare Disease Day 2019 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Developing agenda and talk for rare disease day 2019 - engagement with local councillor and multiple patients / carers / family members
Year(s) Of Engagement Activity 2019
 
Description Participation in an activity, workshop or similar - UKRI Population Research Resource Workshop 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact ESRC, MRC and the Wellcome Trust hosted an invited workshop to examine the need for a new resource to help maximise the use of data and samples from longitudinal population research studies and to develop and support best practice across studies.
Year(s) Of Engagement Activity 2019
 
Description Presentation at ACB Regional Meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Keynote talk (upcoming) at ACB (Association for Clinical Biochemistry for Northern Ireland) on 27 April 2018. Talk will deal with the 100,000 Genomes Project and particularly data infrastructure to support the analysis of genomic data.
Year(s) Of Engagement Activity 2018
URL http://www.acb.org.uk/docs/default-source/meetings/regional-meetings/acb-ni-meeting-20180427---provi...
 
Description Public Registry and Education/Information Workshop 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Workshop to discuss perspective on registry and education / information resources in NI with registered attendees primarily patients, but including those from multiple medical specialities, general public, charities, and industry SMEs for patient portals to larger Pharma.
Year(s) Of Engagement Activity 2018
 
Description Raising awareness of rare diseases with a focus on improving diagnosis and communication 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact NVTV news feature; BBC Radio Ulster, BBC Radio Foyle, Downtown Radio slots promoting improved diagnosis and communication for rare diseases, including a focus on NI's participation in 100 KGP.
Year(s) Of Engagement Activity 2015,2018
URL http://www.nvtv.co.uk/shows/focal-point-monday-12-march-2018/
 
Description RariTea - community wishes from patient engagement 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Patients, carers and/or patient groups
Results and Impact This was a public engagement event designed to share progress and help build a local rare disease network in a geographically isolated area.
There were 54 guests present including seven polititicians with at least 22 rare disease diagnoses in the room.
Local council funding received as a direct consequence of community (participant) requests has ensured three rare disease patient empowerment events run 2019_2020, culminating in a 2020 RariTea.
Year(s) Of Engagement Activity 2019
URL https://osf.io/3xpa4/?view_only=af523f2e596b427ea5818e99ec791735
 
Description Reception in Bangor Castle to promote awareness of rare diseases throughout all communities, to highlight the isolation that is often faced by individuals living in rural communities, and to mark International Rare Disease Day 2018 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Patients, carers and/or patient groups
Results and Impact Reception in Bangor Castle to promote awareness of rare diseases throughout all communities, to highlight the isolation that is often faced by individuals living in rural communities, and to mark International Rare Disease Day 2018. This reception was reported in local and national newspapers (telegraph, chronical, spectator), along with a full page of coverage in the Ulster Tatler (The Ulster Tatler is Northern Ireland's longest established and most widely read monthly magazine)
Year(s) Of Engagement Activity 2018
 
Description Recruitment Launch, NIRGS, BCH 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact We had a formal launch of our recruitment phase for the 100,000 Genomes Project. This took the form of a meeting at the Regional Genetics Laboratories for staff and representatives from the NI Department of Health, including the Chief Scientific Officer and the Chief Medical Officer. The star of the show was definitely one of our patients and her wonderful parents. Photographs and interviews were given and placed prominently on the Belfast Trust website.
Year(s) Of Engagement Activity 2018
URL http://www.belfasttrust.hscni.net/3101.htm
 
Description Registry, Education / Information, and Ni GMC for 100 KGP workshop focused on health and social care staff 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Workshop with sessions specifically tailored to rare disease registries, information and educational resources, and commencing cross-disciplinary recruitment for 100 KGP through the NI Genomic Medicine Centre
Year(s) Of Engagement Activity 2017
 
Description Series of Open Meetings seeking public views on genomic medicine and local challenges of living with rare diseases. 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact A series of open meetings were held to discuss perceptions of the general public on living with rare diseases, in particular focused on the challenges of diagnosis, information and education needs in NI.
Year(s) Of Engagement Activity 2017
 
Description The Incredible Shrinking Dysmorphologist (presentation to Afula Genetics Dept, Israel) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact A talk outlining the approach of phenotyping in the Genomics age; the importance of careful diagnostic phenotyping and data integrity in interpretation of complex genomic variant data sets. Dysmorphology skills remain very important in working out precise diagnoses and the roles of gene variants in disease causation.
Year(s) Of Engagement Activity 2019
 
Description UK Devolved Nations working group on Genomics 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Policymakers/politicians
Results and Impact Ongoing dialogue in the four Devolved Nations in relation to development of genomic policy, impacting at Department of Health level.
Year(s) Of Engagement Activity 2017,2018,2019,2020
 
Description UK Rare Disease Forum (Edinburgh) 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact UK Rare Disease Forum, meeting professionals, patients, study members, policymakers to discuss the approaches of each devolved nation to genomics and the progress of the 100KGP.
Year(s) Of Engagement Activity 2019
 
Description raindrop-rardtac webinar 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Informing and increasing awareness of rare disease research. Launch of the All Ireland Students Network for Rare Diseases (RDSnET)
Year(s) Of Engagement Activity 2021
URL https://www.qub.ac.uk/sites/RareDisease/Events/RareDiseaseResearchandTeachingInitiativesinAcademia.h...