NRS Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event
NRS Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event
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The NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event is an in-person event, free for academic, clinical, government and third-sector colleagues. This event is particularly aimed at members of the Scottish Clinical Genomics community, including Genetic Counsellors and Clinical Geneticists, Trainees/Residents, Nurses and Laboratory Staff and the Scottish genomic research community.
Please note that attendance is not free for industry/commercial attendees, who must pay to attend and will be limited to the morning session.
Please see below the provisional agenda (subject to change).
09:15-09:45 |
Registration & Trade |
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Morning Session: NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group |
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09:45-09:50 |
Introduction and welcome |
Dr Jonathan Berg, University of Dundee |
Session 1 – Chaired by Dr Jonathan Berg, University of Dundee |
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09:50-10:00 |
Developing the NHS - Academic Partnership |
Dr Jonathan Berg, University of Dundee |
10:00-10:30 |
Unified Consent Model for Genetic Testing for Scotland, Progress and Road Map |
Dr Jonathan Berg, University of Dundee Dr Holly Ennis, Scottish Government |
10:30-11:00 |
Building a Register for Patients with High Penetrance Cancer Variants |
Dr Helen Hanson, Royal Devon University Healthcare NHS Foundation Trust |
11:00-11:30 |
Coffee Break & Trade |
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Session 2 – Chaired by Prof. Zosia Miedzybrodzka, University of Aberdeen |
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11:30-12:00 |
Development of ctDNA and implications for germline services |
Prof. Patricia Roxburgh, University of Glasgow |
12.00-12:30 |
Vaccine trials for Lynch Syndrome (Virtual) |
Prof. David Church, University of Oxford |
12.30-13:45 |
Lunch, Networking & Trade |
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Afternoon Session: Scottish Clinical Genomics Forum (Closed session) Chaired by Dr Sarah Wedderburn, NHS Greater Glasgow & Clyde |
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13:45-14:15 |
CNV testing in the Scottish Genomics labs – current situation and limitations Prenatal rapid exome update |
Joanne McLean, NHS Tayside David Moore, NHS Lothian |
14:15-14:25 |
SUDI/SUDIC trio testing |
Dr Jamie Campbell, NHS Lothian |
14:25-14:35 |
Rationalising Genetic Testing in Scotland: a Clinical Perspective |
Dr Ruth McGowan, NHS Greater Glasgow & Clyde |
14:35-14:55 |
Discussion |
Panel |
14:55-15:10 Coffee Break & Trade |
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15:10-15:20 |
Looking Back, Thinking Ahead: What can Clinical Genetics service data tell us? |
Dr Sarah Wedderburn, NHS Greater Glasgow & Clyde |
15:20-15:50 |
Service Specification |
Dr Catherine McWilliam, NHS Tayside |
15:50-16:05 |
Establishing and Improving Clinical Pathways for People with Neurofibromatosis Type 1 (NF1) in Lothian |
Dr Sheelagh Harwell, NHS Lothian |
16:05-16:25 |
Discussion |
Panel |
16:25-16:30 |
Closing Remarks |
Dr Sarah Wedderburn, NHS Greater Glasgow & Clyde |
The agenda and organisation of this event were developed independently from sponsors. Novartis and Oxford Nanopore Technologies have provided financial sponsorship towards this event.
Location
V&A Dundee, DD1 4EZ