Edinburgh-St Andrews Consortium for Molecular Pathology, Informatics and Genome Sciences

Lead Research Organisation: University of Edinburgh
Department Name: Ctr for Genomic & Experimental Medicine

Abstract

The human genome project and the technological advances that accompanied it, including the recent advent of the "thousand dollar genome" have opened up new possibilities in medicine, including the opportunities for more precise, molecular diagnoses and personalised treatment based on genome information. The technologies are now at a stage where, with appropriate validation and optimisation, they will soon be moved into routine clinical care to accelerate disease diagnosis and improve patient outcomes. However, to introduce this "step-change" in diagnostics and pathology successfully into the clinic, will require the coordinated action of expertise from multiple fields, including the physical sciences, and training of modern-style pathologists to be familiar with multiple advanced technologies.
The Edinburgh-St Andrews Molecular Pathology Node will integrate the proven strengths of the Universities of Edinburgh and St Andrews in molecular pathology and diagnostics (training, development and clinical implementation), image analysis of complex phenotypes and computing, with the breadth of genome medicine and genome sciences experience available within the Universities and NHS Lothian. These strengths include institutes and centres with substantial existing MRC, EPSRC and charitable investment including the MRC Human Genetics Unit, MRC Farr Institute, CRUK Cancer Centre and EPSRC-funded supercomputer and optical imaging facilities.

The main aims of the Node will be: (1) training a new generation of molecular pathologists capable of handling modern genome-analysis-aided approaches to diagnosis and treatment of human disease; (2) developing new tests and clinical applications utilizing the advantages of novel technologies; (3) creation of new algorithms, standard operating procedures, data flow schemes and advanced statistical and computational methods that will directly facilitate analysis of the vast and complex data generated by genomics and imaging methods, to implement these new molecular pathology approaches in the clinic. We will focus on areas of clinical need where we believe genome-based assays will most rapidly enter the clinic, particularly the genetic diagnosis of acutely ill children and babies, genetic diagnosis in fetuses with congenital malformations, inherited subtypes of common diseases in adults, and the diagnosis and monitoring of patients with cancer through development of "liquid biopsies" from cell-free DNA in circulating blood.

A significant part of the proposed work will be done by practicing clinicians and diagnosticians in the framework of a purpose-designed Masters Research Programme in Molecular Pathology, to which experts in many fields will contribute, including those in the UK National External Quality Assurance Scheme (UK NEQAS) for Molecular Genetics and Pathology, which is based at the Royal Infirmary in Edinburgh. Together with our world-leading partners from the biotechnology and pharmaceutical industry, we will develop and integrate these genome and imaging-based methods to implement new diagnostic methods in healthcare and to produce and sustain a generation of "genomically-skilled" pathologists who will be leaders in the introduction of these methods into routine practice for the next generation of doctors and scientists.

Technical Summary

The Edinburgh-St Andrews Molecular Pathology Node will integrate proven strengths in molecular pathology, (training, development and clinical implementation), image analysis of complex phenotypes, informatics and genomics to build expertise, quality assurance and capacity in 21st century molecular diagnostics. Drawing on additional strengths in the MRC Human Genetics Unit, MRC Farr Institute, CRUK Cancer Centre, EPSRC-funded supercomputer facilities and industrial collaborations, we will establish a Masters by Research in Molecular Pathology, and thus train a new generation of scientists who will develop new assays, algorithms and standards for genome and epigenome analysis and interpretation for clinical use. We will implement state-of-the-art genome technologies to mainstream molecular diagnosis of Mendelian diseases in adult medicine and establish rapid genetic diagnosis of acutely ill children and neonates. We will develop "liquid biopsies" for managing cancer via genetic and epigenetic analyses of tumours and cell-free circulating DNA and will use state-of-the art digital imaging, image analysis and spectroscopy of tumours to provide more precise diagnoses and predictive stratification for patient management. The leads for this proposal all work at the interface of academia and the NHS and, by defining diagnostic standards in collaboration with the UK National External Quality Assurance Scheme (UK NEQAS) for Molecular Pathology and Genetics, hosted in Edinburgh by NHS Lothian, can ensure that these innovations are translated rapidly to clinical practice in the NHS. The Node's activities will be dovetailed with industry at every stage: technology development, assay design and implementation, data interpretation and clinical validation. The new Molecular Pathology Masters programme will produce and sustain a generation of new academic pathologists and help create a virtual Centre for Molecular Pathology as a basis for a substantive MRC Centre in the longer term.

Planned Impact

Through the clinical, academic and public engagement activities of the PI and co-Investigators, there has already been significant public, industrial and healthcare interest in the proposed activities of this Node.

Following the "Clinical Genomes Scotland" meeting in Edinburgh in October 2014, organised by Aitman, Porteous and Hastie, the Clinical Genetics Forum of Scotland held a number of meetings, culminating in the recommendation to the Scottish Chief Medical Officer (CMO) for the funding of 750 clinical genome sequences per year. Detailed discussions with the CMO have now led to provision for £1 million for clinical sequencing of Scottish genomes. This funding is part of an overall package of £10 million, to be jointly provided by the MRC and Scottish government, contingent on successful peer review of a single Scottish application for this funding (submitted February 2015, Aitman co-PI). If awarded, this funding will have a major impact on genome activities in Scotland and across the UK.

The public sector has also shown considerable interest in the genome and pathology activities of this grouping of researchers. For example, the PI has been invited by Genetic Alliance and Rare Diseases UK to speak at their annual reception at the Scottish Parliament in February 2015. Public events are planned by co-I Morris as part of the public engagement activities of the Scottish Farr Institute.

The proposed Node has also received considerable interest from local, national and international industry. The globally leading genome sequence company, Illumina, is one of our formal partners and will share early access protocols and software and has allocated a half-time postdoctoral scientist to work with us in their development labs. The leading multinational pharmaceutical company, Biogen Idec, has sponsored three Masters studentships and indicated its keenness to collaborate with us on genome-based disease stratification projects. Other companies, including Nucana, Definiens, Qunitiles and Aridhia have indicated they will collaborate with the Node, once established, on clinical trials of genome-based assays.

Overall, the training of 18 Pathologists as Masters students on our MSc by Research, who will be versed in the most up-to-date genome and computational technologies in their applications to healthcare, will create a step-change in training of academic pathologists. We anticipate that some of our graduates will be the leaders in development of molecular diagnostics for the next generation of clinicians and healthcare scientists.

Publications

10 25 50
 
Description Edinburgh visit of Illumina CEO, CFO and CTO to Edinburgh Genomics facilities and SGP
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
 
Description Informing the Future of Medical Genomics in Scotland, Precision Medicine Summit
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Contributions to BEIS report on Precision Medicine and consideration by Scottish Government.
 
Description Member, European Research Council Advanced Grant Panel LS2
Geographic Reach Europe 
Policy Influence Type Membership of a guideline committee
Impact Award of European Research Council Advanced grants.
 
Description National Diagnostics Advisory Group
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
Impact Sponsorship and engagement with the pharmaceutical company Bristol Myers Squibb is leading to economic development in Scotland and across the UK.
 
Description Priorities for Translational Research and Innovation in Scotland, Scottish Policy Conferences, Cancer Care
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Raising the profile of genomic research to the attention of the Scottish Government.
 
Description Scottish Clinical Genetics Research Day
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Enhancement of Scottish clinical genetics research and knowledge and understanding of genomic tools available.
 
Description Scottish Genomes Partnership - Scottish Science Advisory Council
Geographic Reach National 
Policy Influence Type Participation in a guidance/advisory committee
Impact Working with the Scottish Science Advisory Council, raising the profile of Genomic Medicine and the potential for its future use to the Scottish Government via the publication of the report "Informing the Future of Genomic in Scotland"
 
Description Scottish Genomics Leadership Group
Geographic Reach National 
Policy Influence Type Contribution to a national consultation/review
Impact The development of an NHS genomic medicine service and the education of the NHS workforce are already starting to impact on patient outcomes and effectiveness of NHS healthcare.
 
Description Scottish Parliament Inquiry into Genomics in Healthcare for Scotland - Scottish Scientific Advisory Council
Geographic Reach National 
Policy Influence Type Contribution to a national consultation/review
Impact New funding proposal under consideration. Scottish Genomes Catalyst Fund, £3.5M, under auspices of Scottish Enterprise, now under review.
 
Description The Ethics of Genomic medicine, Royal Medical Society
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Raising the profile of ethical issues surrounding genomic research amongst medical communities.
 
Description Visit of Cabinet Secretary for Health and Sport to Edinburgh Genomics
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
Impact Raising the context of Scottish genomics to the attention of the Scottish Government.
 
Description Visit of Scottish Cabinet Secretary for Health and Sport to Scottish Genomes Partnership and subsequent policy dialogue
Geographic Reach National 
Policy Influence Type Implementation circular/rapid advice/letter to e.g. Ministry of Health
Impact Proposal now under consideration by Scottish Government for future funding of genomics in healthcare.
 
Description Written and oral evidence to House of Commons Science and Technology Committee inquiry into Genomics and Genome Editing
Geographic Reach National 
Policy Influence Type Contribution to a national consultation/review
Impact Gave UK-wide context to genomic medicine, particularly the participation of the devolved administrations and the interactions between Scottish and English national genome projects. Increased awareness of the SGP award and its impact in the Westminster and Scottish Parliaments.
URL https://www.parliament.uk/business/committees/committees-a-z/commons-select/science-and-technology-c...
 
Description Detection of circulating cell-free DNA in renal cancer patients using renal cancer-specific DNA methylation and mutation changes
Amount £10,000 (GBP)
Funding ID SRG/19/129 
Organisation The Royal College of Surgeons of Edinburgh 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2019 
End 01/2020
 
Description Early Detection Committee - Project Award
Amount £483,949 (GBP)
Funding ID C22524/A26254 
Organisation Cancer Research UK 
Sector Charity/Non Profit
Country United Kingdom
Start 12/2018 
End 11/2021
 
Description Guthrie Fund
Amount £3,935 (GBP)
Organisation ENT Scotland 
Sector Learned Society
Start 04/2019 
 
Description Scottish Enterprise High Growth Spinout Programme
Amount £392,413 (GBP)
Funding ID PS7305CA54 
Organisation Scottish Enterprise 
Sector Public
Country United Kingdom
Start 02/2018 
End 01/2019
 
Description Scottish Genomes Partnership Agreement Extension
Amount £1,044,181 (GBP)
Funding ID SGP/2 extension 
Organisation Government of Scotland 
Sector Public
Country United Kingdom
Start 09/2019 
End 09/2021
 
Title Whole genome sequencing 
Description A whole genome sequencing facility was established in the University of Edinburgh. The facility has enabled collaborations locally and nationally including the sequencing of 14,000 whole genomes of humans and agricultural animals. The Pan-Scotland Scottish Genomes Partnership joined four Scottish medical schools, four regional genetic centres and their collaboration with Genomics England and the 100,000 Genomes Project. This included diagnostic testing by whole genome sequencing of more than 300 patients in the Scottish NHS and has led to £4.2 million of further funding for genome-based testing by the Scottish Government for patient care. 
Type Of Material Improvements to research infrastructure 
Year Produced 2018 
Provided To Others? Yes  
Impact The diagnostic rate of around 20-25% was realised for patients in the Scottish NHS. Major industrial collaborations were established for agricultural genomics to improve agricultural health and productivity. 
 
Description AstraZeneca Annual Genomics Partners Workshop 
Organisation AstraZeneca
Country United Kingdom 
Sector Private 
PI Contribution I made proposals for collaborative research with AstraZeneca.
Collaborator Contribution I sit on the AstraZeneca genomics advisory board.
Impact No impact yet
Start Year 2018
 
Description Cell-Free DNA Opportunities for Cancer Diagnostics 
Organisation Cancer Research UK
Department Edinburgh Cancer Research UK Centre
Country United Kingdom 
Sector Academic/University 
PI Contribution We are developing strategies for analysis of cfDNA for early detection and diagnosis of cancer,
Collaborator Contribution We carry out in silico and wet lab investigation of cfDNA across several cancer types, in collaboration with oncologists and cancer surgeons in the Scottish NHS.
Impact No impact yet.
Start Year 2018
 
Description Genetic Studies of Motor Neurone Disease - SGP SAB 
Organisation Scottish Genome Partnership
Country United Kingdom 
Sector Learned Society 
PI Contribution We sequenced the genomes of 380 patients with motor neurone disease.
Collaborator Contribution We analysed the genome sequences and compared to controls. The data are part of an emerging collaboration with the New York Genome Center to identify disease genes for motor neurone disease.
Impact No impact yet
Start Year 2016
 
Description Genomics England partnership for sequencing patients in the Scottish NHS 
Organisation Genomics England
Country United Kingdom 
Sector Public 
PI Contribution Collaboration agreement signed, secure data transfer in place, genome sequence data being analysed collaboratively.
Collaborator Contribution Recruitment and sequencing of 1000 genomes of patients and their families in the Scottish NHS
Impact Written and oral evidence to House of Commons S&T Committee Inquiry in Genomics and Genome Editing
Start Year 2016
 
Description Liquid Biopsy and Early Detection, CRUK Brain Cancer Centre of Excellence Workshop 
Organisation Cancer Research UK
Department Edinburgh Cancer Research UK Centre
Country United Kingdom 
Sector Academic/University 
PI Contribution We are developing strategies for analysis of cfDNA for early detection and diagnosis of cancer.
Collaborator Contribution We carry out in silico and wet lab investigation of cfDNA across several cancer types, in collaboration with oncologists and cancer surgeons in the Scottish NHS.
Impact No impact yet
Start Year 2018
 
Description Liquid biopsy in south east Scotland 
Organisation NHS Lothian
Country United Kingdom 
Sector Public 
PI Contribution Across eight different cancer types, collaborations have been established between clinicians and the Centre for Genomic and Experimental Medicine (Prof Aitman's Group) to investigate the potential for analysis of cell-free DNA in cancer patients and their cancer management. The clinical collaborators have included cancer surgeons, oncologists, pathologists and the NHS Lothian cancer network nurses. We have developed protocols and panels for analysis for cell-free DNA in patients with cancer and these are now starting to impact on clinical management. We have developed protocols and panels for analysis for cell-free DNA in patients with cancer and these are now starting to impact on clinical management.
Collaborator Contribution Across the different cancer types, clinicians have provided recruitment of patient samples, the nursing network have provided support for recruitment and sample collection and pathologists have provided expert reports and tissue sections.
Impact The publication on head and neck cancer has been uploaded to medRxiv.
Start Year 2016
 
Description Training collaboration with Scottish NHS 
Organisation University of Edinburgh
Country United Kingdom 
Sector Academic/University 
PI Contribution This award, in collaboration with NHS Lothian and NHS Tayside, have established a new Postgraduate Certificate in Molecular Pathology and Genomic Medicine at the University of Edinburgh. This is training clinicians and clinical scientists in new molecular methods in diagnostics and pathology that are relevant to state-of-the-art healthcare in the 21st century.
Collaborator Contribution I am PI on the award and have overseen the case to University of Edinburgh for establishing the course, have recruited teaching fellows, and assisted in design and content of the courses, as well as lecturing on several components of the course.
Impact 14 students from across South East Scotland, all NHS employees, have enrolled and all passed their first course. Student feedback is excellent. 11 medical trainees have enrolled on the related MMedSci Masters by Research. Of the 7 who have graduated to date, 6 have graduated with Distinction.
Start Year 2017
 
Company Name BioCaptiva 
Description BioCaptiva develops a medical device used for cancer diagnostics. 
Year Established 2018 
Impact Awareness of the new technology in biotech and pharma. Potential for advancing the diagnostic field of liquid biopsy for patient cancer management.
Website https://www.biocaptiva.com/
 
Description AdMedSci/RSE, Working together to address health challenges in Scotland, Edinburgh, Delegate 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Joint meeting of a AcMedSci and Royal Society of Edinburgh showcasing activities in common.
Year(s) Of Engagement Activity 2023
 
Description Advanced Medicine: Introduction to Genomics, Advanced Medicine Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact This was a lecture at the Royal College of Physicians Advanced Medicine symposium, attended by over 200 trainees policymakers and others.
Year(s) Of Engagement Activity 2018
 
Description CRUK, Early Career Researcher Network, Early Detection Workshop, Glasgow, "Precision Prediction" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Collaboration building across Scotland and with Cancer Research UK.
Year(s) Of Engagement Activity 2020
 
Description CSO, Scotland's Health Research and Innovation Conference, 50 years of advancing healthcare, Glasgow, Delegate 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact A national showcase of precision medicine and other CSO activities for academic experts and experts from industry.
Year(s) Of Engagement Activity 2023
 
Description Cell-free DNA Workshop, University of Edinburgh, Clinician & Professoriate Workshop 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Professor Aitman organised this combined meeting for the University of Edinburgh and the local NHS region. New collaborations were formed and grant applications planned.
Year(s) Of Engagement Activity 2020
 
Description Cross-Party Group: Rare, Genetic and Undiagnosed Conditions, Edinburgh, "Genomic Medicine in Scotland - the Scottish Science Advisory Council Report" 
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 Parliamentary cross-party group meeting. Presentation and discussion about national policy.
Year(s) Of Engagement Activity 2019
 
Description Edinburgh Medical Debate - proposed motion 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact The subject matter of the debate was: "Edinburgh Medical Debate. Genome Screening: A Pandora's Box?". The motion for the debate was: "This house believes that the UK population should have whole genome screening." As proposer of the motion, we had pre-debate support for 36% of the audience, and post-debate support of 47%. A swing of 11% in favour of the motion!
Year(s) Of Engagement Activity 2017
URL https://media.ed.ac.uk/media/Edinburgh+Medical+Debate.+Genome+ScreeningA+A+Pandora%27s+BoxF/1_6nqurm...
 
Description Facebook video presentation, liquid biopsy 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact In collaboration with Cancer Research UK I was filmed for a public engagement video to describe my research on liquid biopsy and its clinical implications. The video was posted on Facebook and received over 1 million views.
Year(s) Of Engagement Activity 2019
URL https://www.facebook.com/7950759473/posts/313130479345003
 
Description Genomic Medicine: Yesterday, Today and Tomorrow 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact This was a lecture at the joint meeting of Genomics England and Brisith Society for Genetic Medicine, attended by over 200 clinicians, trainees and others.
Year(s) Of Engagement Activity 2018
 
Description Global Engage, 2nd Liquid Biopsies Conference, online, "Liquid Biopsy for Cancer - just another Biomarker?" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Online seminar talk detailing liquid biopsy data and prospects from the Aitman research group.
Year(s) Of Engagement Activity 2020
URL https://www.global-engage.com/event/liquid-biopsies/
 
Description Invited presentation to Royal College of Physicians of Edinburgh: "Genomic Medicine in Scotland: Progress, Prospects and Promises" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Presentation to RCPE Senior Fellows - to inform and influence.
Year(s) Of Engagement Activity 2017
 
Description MRC Molecular Pathology Node Directors Meeting 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Lecture to Molecular Pathology Programme Directors and to MRC funders
Year(s) Of Engagement Activity 2018
 
Description NHS, Scottish Inherited Metabolic Disease Interest Group (SIMDIG), Stirling, "Genome-based Genetic Testing" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact National metabolic diseases forum presentation.
Year(s) Of Engagement Activity 2019
 
Description New perspectives, new opportunities in life science and healthcare, BioDundee 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact This was a lecture at the Biodundee healthcare research symposium, attended by over 100 trainees policymakers and others.
Year(s) Of Engagement Activity 2018
 
Description Opening presentation at Royal College of Physicians, Advanced Medicine Conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited presentation on impact of advances in genomics on clinical practice.
Year(s) Of Engagement Activity 2018
URL https://www.rcplondon.ac.uk/events/advanced-medicine-2
 
Description Opening presentation, British Society for Genetic Medicine, Royal College of Physicians of London 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited presentation on the Scottish Genomes Partnership and Scottish collaboration with Genomics England
Year(s) Of Engagement Activity 2017
URL http://www.bsgm.org.uk/bsgm-annual-meeting-2017/
 
Description Oxford Global, 17th Annual Biomarkers Congress, Manchester, Speaker "Liquid Biopsy Biomarker Development and Implementation for Precision Oncology" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Showcasing and networking actitivities in precision oncology.
Year(s) Of Engagement Activity 2023
 
Description Oxford Nanopore Technologies, Nanopore Community Meeting 2022, New York, USA, Speaker, "Long-read genome sequencing in Scottish patients with rare disease" 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact I was an invited speaker at this international meeting with an in-person and virtual audience of 4400. Excellent feedback from my talk, extensive opportunities for networking and future planning.
Year(s) Of Engagement Activity 2022
 
Description Precision Medicine Leaders' Summit, Liquid Biopsy Virtual Summit, Delegate, Online 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Virtual symposium on liquid biopsy.
Year(s) Of Engagement Activity 2023
 
Description Presentation at Scottish Parliament - Rare Disease Day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Prof Zosia Miedzybrodzska, Lead Clinical Geneticist on this award, and for Scotland, gave an invited presentation on the Scottish Genomes Partnership and genome sequencing therein. Over 150 people from patient organisations, the public, and members of the Scottish Parliament including the Minister for Mental Health and the Chair of the Cross-Party Group on Rare Diseases were present.
Year(s) Of Engagement Activity 2018
URL https://www.scottishgenomespartnership.org
 
Description Royal Society of Scottish Arts Lectures, Edinburgh, "The Human Genome - its Scientific and Societal Impact" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Invited presentation to learned society.
Year(s) Of Engagement Activity 2019
 
Description Scottish Biomedical Postdoctoral Researcher Conference, Glasgow, "The Roadmap to a National Programme in Genomic Medicine" 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Supporters
Results and Impact This working group was organised by Cancer Research UK to develop a 10 year roadmap for its programme on early detection of cancer. Consultative presentations working group discussions fed into outline policy.
Year(s) Of Engagement Activity 2019
 
Description Scottish Government, Stakeholder meeting with senior officials from PRECISE and Singapore's Ministry of Health, Glasgow, Speaker "Liquid biopsy for precision oncology in Scotland" 
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 A national showcase of precision medicine including experts from industry and international experts from the Far East.
Year(s) Of Engagement Activity 2023
 
Description The Royal College of Pathologists, Scotland Symposium, online, "Genomes and liquid biopsy" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact TA gave a talk on prospects for liquid biopsy in cancer diagnostics and his group's research programme in this area.
Year(s) Of Engagement Activity 2020
 
Description The Swallows Head & Neck Cancer Support Charity, Head & Neck Cancer International Conference, online, "Liquid Biopsy Marker Project" 
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 Online talk to international society attended by several hundred people and more than 1000 social media references.
Year(s) Of Engagement Activity 2020
 
Description UK Rare Diseases Forum, Edinburgh, "Rapid Whole Genome Sequencing" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact National meeting on genetics of rare diseases for a wide audience including policy makers, scientists, clinicians, funders. The meeting built collaborations from the research findings and clinical activity presented.
Year(s) Of Engagement Activity 2019
 
Description University of Edinburgh, AI and Biomedicine, Edinburgh, Delegate 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact High level strategy group for the University of Edinburgh to define strategic priorities for AI and biomedicine.
Year(s) Of Engagement Activity 2023
 
Description University of Edinburgh, CGEM Away Day, Co-organiser as the director of CGEM, Edinburgh 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact Annual retreat of the University centre that I direct. Excellent discussions and plans for future.
Year(s) Of Engagement Activity 2022,2023
 
Description University of Edinburgh, Edinburgh Next Generation of Genomics Symposium (ENGoGS), Edinburgh, Speaker/Delegate 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Postgraduate students
Results and Impact Symposium for early career researchers and industry to showcase and develop strategy in genomic applications to healthcare, across species and disciplines.
Year(s) Of Engagement Activity 2023