The Wales Genomic Medicine Centre
Lead Research Organisation:
Cardiff University
Department Name: UNLISTED
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.
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.
Organisations
- Cardiff University (Collaboration, Lead Research Organisation)
- Welsh Assembly (Collaboration)
- University of Melbourne (Collaboration)
- Secure Anonymised Information Linkage Databank (Collaboration)
- UNIVERSITY OF BIRMINGHAM (Collaboration)
- CARDIFF AND VALE UNIVERSITY HEALTH BOARD (Collaboration)
- Genomics England (Collaboration)
- UNIVERSITY OF EDINBURGH (Collaboration)
People |
ORCID iD |
Publications
Brock S
(2023)
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
in Journal of medical genetics
Daniels H
(2021)
Exploring the Use of Genomic and Routinely Collected Data: Narrative Literature Review and Interview Study.
in Journal of medical Internet research
Fry AE
(2021)
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
in American journal of human genetics
Jones K
(2020)
Toward a Risk-Utility Data Governance Framework for Research Using Genomic and Phenotypic Data in Safe Havens: Multifaceted Review.
in Journal of medical Internet research
Palles C
(2022)
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
in American journal of human genetics
Parry DA
(2021)
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
in Genetics in medicine : official journal of the American College of Medical Genetics
Prentzell MT
(2021)
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.
in Cell
Rabin R
(2020)
Genotype-phenotype correlation at codon 1740 of SETD2.
in American journal of medical genetics. Part A
Ragoussis V
(2022)
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
in Journal of medical genetics
| Description | Genomics England Science Advisory Committee |
| Geographic Reach | National |
| Policy Influence Type | Participation in a guidance/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 guidance/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 | Wales Gene Park |
| Amount | £3,895,000 (GBP) |
| Funding ID | RES35175 |
| Organisation | Government of Wales |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2020 |
| End | 03/2025 |
| 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. Established shared NHS and research high throughput (NovaSeq) NGS platform. Established Genomics Sounding Board - formal PPIE mechanism for input to genomics. |
| 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 | MBD4 inherited tumour syndrome collaboration |
| Organisation | University of Birmingham |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. Published findings jointly with collaborators. |
| Collaborator Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. |
| Impact | Publication: Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet. 2022 May 5;109(5):953-960. |
| Start Year | 2020 |
| Description | MBD4 inherited tumour syndrome collaboration |
| Organisation | University of Edinburgh |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. Published findings jointly with collaborators. |
| Collaborator Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. |
| Impact | Publication: Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet. 2022 May 5;109(5):953-960. |
| Start Year | 2020 |
| Description | MBD4 inherited tumour syndrome collaboration |
| Organisation | University of Melbourne |
| Country | Australia |
| Sector | Academic/University |
| PI Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. Published findings jointly with collaborators. |
| Collaborator Contribution | Undertook clinical and molecular research investigating families with polyposis/colorectal cancer. |
| Impact | Publication: Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. Am J Hum Genet. 2022 May 5;109(5):953-960. |
| Start Year | 2020 |
| Description | SAIL databank |
| Organisation | Secure Anonymised Information Linkage Databank |
| Country | United Kingdom |
| Sector | Academic/University |
| 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 | SAIL databank |
| Organisation | Secure Anonymised Information Linkage Databank |
| Country | United Kingdom |
| Sector | Academic/University |
| 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.3) funding of £1M for high throughput NGS (NovaSeq) platform with shared NHS (diagnostic) and academic (research, via Wales Gene Park) use. Has enabled introduction of new NHS genomic services in Wales to include whole genome sequencing.4) Established Welsh Government Cross Party Group on Rare Diseases with membership from Wales GMC and patients affected by rare diseases and their representatives (e.g. Rare Disease UK, Genetics Alliance), providing advice and information to Welsh Govt in this area. |
| Start Year | 2017 |
| Title | NHS genetic tests for variants identified during 100KGP |
| Description | Pathogenic and likely pathogenic genetic variants identified by 100KGP project or identified in project data through additional research have been confirmed by the NHS All Wales Genetics Laboratory and reported to clinicians enabling confirmation of diagnoses, access to prenatal and preimplantation genetic diagnosis and cascade genetic testing for patients in Wales with previously undiagnosed genetic conditions. |
| Type | Diagnostic Tool - Non-Imaging |
| Current Stage Of Development | Small-scale adoption |
| Year Development Stage Completed | 2022 |
| Development Status | Under active development/distribution |
| Impact | Recruitment to further research studies following confirmation of molecular diagnosis |
| Description | "Spotlight on Genomics" event at Wales Festival of Innovation |
| 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 | 75 multidisciplinary professionals working in genomics took part in this workshop at the Wales Festival of Innovation. Outcomes were newly established links between industry, academia and NHS practitioners. |
| Year(s) Of Engagement Activity | 2018 |
| 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 | Public lectures on genomic medicine organised by Wales Gene Park |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Public/other audiences |
| Results and Impact | 340 attendees at public lectures on genomic medicine organised by Wales Gene Park for Wales GMC. Purpose: to inform, involve and engage public in relation to 100KGP and opportunities to participate in genomic research. |
| Year(s) Of Engagement Activity | 2018,2019 |
| URL | http://www.walesgenepark.cardiff.ac.uk/2019/10/01/wales-gene-park-annual-report-2018-2019/ |
| Description | Rare Disease Day 2018, Senedd Welsh Govt Building, Cardiff |
| 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 | Event for approx 130 people including politicians, patients and rare disease charities, researchers and health care professionals at which 100KGP and opportunities and challenges in genomic medicine were reported and reviewed. Outcome: patient voice and professionals identify needs and priorities to Welsh Govt. in relation to priorities of Govt policy "Genomics for Precision Medicine". |
| Year(s) Of Engagement Activity | 2018 |
| URL | http://www.walesgenepark.cardiff.ac.uk/2019/10/01/wales-gene-park-annual-report-2018-2019/ |
| 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 | Rare Disease day reception 2019, Welsh Govt. |
| 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 | 140 attendees approx at event hosted by Welsh Govt for primarily for patients and professionals to review progress and identify priorities and challenges for patients with rare diseases in Wales. |
| Year(s) Of Engagement Activity | 2019 |
| 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... |