The Wales Genomic Medicine Centre

Lead Research Organisation: Cardiff University

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 £1 million award is the MRC’s investment in the Wales Partnership, managed by the University of Cardiff. It partners funding of £2.3m from the Welsh Government. Together, funds will be used in Wales to (i) sequence 420 genomes of people with rare diseases (and often also their families), (ii) to build and develop infrastructure for genomics, (iii) to increase training in genomics and (iv) to increase public engagement with genomic research.

Technical Summary

The overall vision of the Wales GeMeC is to bring benefit to patients through improved diagnosis, together with improved understanding of rare diseases through the contribution of samples from patients in Wales. The award 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 and also build the capacity of the Welsh NHS, 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 Genomics England Science Advisory Committee
Geographic Reach National 
Policy Influence Type Participation in a advisory committee
Impact The 100KGP has enabled precise diagnosis of rare inherited diseases for patients in the UK through the increased effectiveness of whole genome sequencing over traditional genetic diagnosis in some settings, for example in intellectual disability/developmental delay. This will improve the quality of genetic counselling available to these families. These benefits have not yet eventuated in the Wales GMC because WGS results will only be available for Wales GMC patients later in the project. Wales is not participating in tumour sequencing in patients affected by cancers at this time (i.e through this award).
 
Description Genomics Partnership Wales
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Participation in a advisory committee
Impact Members of the GMC team have been appointed to the Genomics Partnership Wales Governance Board. The Board is responsible for implementation of the Welsh Government's "Genomics for Precision Medicine Strategy" through additional resources of £6.3M over 5 years committed to development of genomic medicine by Welsh Government in association with the £1M MRC award for Wales to join the 100KGP and develop the Wales GMC. New services for delivery in Wales of clinical and laboratory genomic medicine have been developed, increasing access to genomic diagnosis, implementation of genomic technologies to increase efficiency and effectiveness of these services and appointment of new posts in laboratory genomic medicine (clinical scientists), bioinformatics, genetic counselling and clinical gen9omic research.
 
Description Welsh Government Genomics for Precision Medicine Strategy
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Citation in other policy documents
URL http://gov.wales/topics/health/publications/health/strategies/genomics/?lang=en
 
Description Welsh Rare Disease Implementation Plan
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Citation in other policy documents
Impact Wales' involvement in the 100,000 Genomes Project through the Wales GMC is cited in the Welsh Rare Disease Implementation Plan and has led to improved access to genomic diagnosis for patients from Wales who are affected by rare diseases through access to diagnostic whole genome sequencing.
URL http://gov.wales/docs/dhss/publications/170726rare-diseasesen.pdf
 
Description Clinical Research Fellowship in Genomic Medicine
Amount £255,200 (GBP)
Organisation Welsh Assembly 
Sector Public
Country United Kingdom
Start 04/2019 
End 04/2022
 
Description Genomics Strategy
Amount £69,500 (GBP)
Funding ID GEN04 
Organisation Health and Care Research Wales 
Sector Public
Country United Kingdom
Start 04/2017 
End 03/2018
 
Description Infrastructure Support Groups
Amount £1,666,666 (GBP)
Organisation Health and Care Research Wales 
Sector Public
Country United Kingdom
Start 04/2018 
End 03/2020
 
Description Cardiff and Vale University Health Board 
Organisation Cardiff and Vale University Health Board
Country United Kingdom 
Sector Public 
PI Contribution Established mechanisms and infrastructure to enable patients with rare diseases and receiving health care through this Health Board to access whole genome sequencing for accurate diagnosis via 100KGP and confirmatory testing in NHS All Wales Genetics Laboratory.
Collaborator Contribution Contributed to governance structure, patient identification for recruitment, systems for confirmatory diagnostic genetic testing in NHS laboratory, mechanisms for utilization of individual genomic findings in clinical care.
Impact Establishment of new NHS posts in Wales in laboratory genomics and bioinformatics.
Start Year 2017
 
Description Genomics England Ltd. 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Establishment of data sharing agreement. Recruitment of patients and family members from Wales affected by rare diseases, sampling for whole genome sequencing (by Genomics England) and provision of phenotype/clinical data for the UK 100KGP data resource. Recruitment started Feb 2018 and closes Sept 2018. 38 of 420 recruited by end Feb 2018.
Collaborator Contribution Establishment of data sharing agreement. Establishment and testing of inter-laboratory arrangements for QA and sample flow and inter-partner transfer of clinical data and genome sequencing findings between GEL and the Wales Genomic Medicine Centre.
Impact Development of the Welsh Government Strategy on Genomics for Precision Medicine (2017). Investment by Welsh Government in genomics infrastructure for the NHS in Wales (£6.5M over 5 years of which >£2m already allocated).
Start Year 2017
 
Description SAIL databank 
Organisation Secure Anonymised Information Linkage Databank
Country United Kingdom 
Sector Public 
PI Contribution Initiating a scoping exercise between the Wales GMC, Wales Gene Park and SAIL databank to determine issues surrounding addition of genomic data to routinely collected data on the Welsh population and advise on potential mechanisms and solutions for this. The Wales GMC funds a researcher with SAIL to undertake this work.
Collaborator Contribution Initiating a scoping exercise between the Wales GMC, Wales Gene Park and SAIL databank to determine issues surrounding addition of genomic data to routinely collected data on the Welsh population and advise on potential mechanisms and solutions for this. The Wales GMC funds a researcher with SAIL to undertake this work.
Impact none yet
Start Year 2017
 
Description Wales Gene Park 
Organisation Cardiff University
Department Wales Gene Park
Country United Kingdom 
Sector Academic/University 
PI Contribution The collaboration between the Wales Genomic Medicine Centre (GMC) and Wales Gene Park is helping the latter in its mission to harness genomics to improve health and wealth in Wales
Collaborator Contribution Wales Gene Park is supporting public engagement and professional (NHS staff) education in relation to the 100KGP in Wales through a programme of awareness raising in collaboration with the Genetic Alliance and a programme of education in all district hospitals across Wales. Wales Gene Park is also supporting the development and implementation of IT and bioinformatics for the Wales GMC.
Impact 1) Access to whole genome sequencing for patients with rare diseases in Wales for diagnosis 2) improved understanding of clinical applications of genomics in the NHS workforce in Wales 3) development of a better integrated plan for IT infrastructure supporting genomics for health service and research needs in Wales
Start Year 2017
 
Description Welsh Assembly Government 
Organisation Welsh Assembly
Country United Kingdom 
Sector Public 
PI Contribution Member of the Wales GMC team have been invited members of the Welsh Government Genomics Taskforce that has developed and is implementing the Welsh Government "Strategy on Genomics for Precision Medicine"
Collaborator Contribution Welsh Government, though the Cabinet Secretary for Health and Social Care and his team including the Chief Scientific Advisor (Health) and Director of Health and Care Research Wales have committed to £6.5M of new funds over 5 years for development of genomic medicine in the NHS in Wales that is essential to the service transformation aim of the Wales GMC. >£2M of these funds have been allocated in 2017/8.
Impact 1) new genomic laboratory infrastructure for All Wales Genetics Service (NHS) 2) new NHS genomics posts including clinical scientists, bioinformaticians and clinical staff.
Start Year 2017
 
Description 3G public genetics conference - North Wales 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact talk on 100KGP and Q&A session in conjunction with North West Coast GMC to 48 members of public aged >50 years.
Year(s) Of Engagement Activity 2017
URL http://www.walesgenepark.cardiff.ac.uk/2017/08/04/3g-public-genetics-conference-north-wales/
 
Description All Wales Medical Genetics Service update 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Talk from 100KGP Wales team to All Wales Medical Genetics Service (clinicians, counsellors, NHS lab scientists) to raise awareness of 100KGP
Year(s) Of Engagement Activity 2017
 
Description Genomics 6th Form Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Schools
Results and Impact The 6th Form Conference aims to stimulate interest in biomedical service and research careers among sixth formers in Wales.
Over 1500 pupils attended across 2 sites in N and S Wales.
Year(s) Of Engagement Activity 2018
URL http://www.walesgenepark.cardiff.ac.uk/2018/08/17/sixth-form-genetics-conference-save-the-date/
 
Description Genomics Roadshow, Wales 
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 Presentations from GMC Wales on genomic medicine and 100KGP at grand rounds in hospitals (N=16) in each Health Board in Wales and in 3 HEIs to health care students
Purpose was to raise awareness of opportunities in genomic medicine, and for recruitment to 100KGP across all health boards in Wales
Involved 1125 health professionals and students
Year(s) Of Engagement Activity 2018,2019
URL https://www.healthandcareresearch.gov.wales/events/2018/06/20/genomics-roadshow-for-health-professio...
 
Description Rare Disease Day event at Welsh Govt 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Policymakers/politicians
Results and Impact Rare Disease Day and formal launch of 100KGP in Wales at Welsh Governement hosted public event. Media interest - covered by local media in Wales.
Year(s) Of Engagement Activity 2017
URL http://www.walesgenepark.cardiff.ac.uk/2018/01/15/rare-disease-day-2018-senedd-reception/
 
Description SWAN undiagnosed genetic conditions event, Cardiff 30th Jan 2018 
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 Talk and Q&A session on 100KGP by 100KGP Wales team members to 46 patients/carers at SWAN charity information day in Cardiff.
Year(s) Of Engagement Activity 2017
URL http://www.undiagnosed.org.uk/news-events/events/undiagnosed-genetic-conditions-information-event-ca...