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NHS Research Scotland Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event

Date: 18/11/2026 to 18/11/2026 Venue: V&A, Dundee

NHS Research Scotland Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum Joint Event

The NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group and the Scottish Clinical Genomics Forum are hosting 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.

We will be showcasing patient focussed research and development in the field of genomics in Scotland, discussing the changes in genetic testing on both Laboratory and Clinical Genetics Practice across Scotland and how we can collaborate to maintain the best service for our patients. Our speakers and delegates are from within NHS Scotland Services and will be reporting back on experience in all 4 Genetics Services and Laboratories and sharing new ways of working in Clinical Genetics to manage increased patient referrals. We also expect an update from the Scottish Strategic Network for Genomic Medicine.

 

Register to attend

 

Venue information

More information on the venue can be found on the V&A Dundee's website.

Programme

This programme is correct at time of publication, and is subject to change.

Novartis and Nanopore Technologies have provided financial sponsorship towards this event. The agenda and organisation of this event were developed independently from sponsors.

The Novartis logo in black.   

09:15 - 09:45

Registration & trade
Morning Session: NHS Research Scotland (NRS) Genetics and Rare Diseases Specialty Group

09:45 - 09:50

Introduction and welcome

Dr Jonathan Berg, University of Dundee

Session One: Chaired by Dr Jonathan Berg, University of Dundee

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
Session Two: Chaired by Prof. Zosia Miedzybrodzka, University of Aberdeen

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

Afternoon Session: Scottish Clinical Genomics Forum (Closed session)

Chaired by Dr Sarah Wedderburn, NHS Greater Glasgow & Clyde

13:45 - 14:15

CNV Testing in the Scottish Genomics Labs: Current situation and limitations

Joanne McLean,
NHS Tayside

 

Prenatal rapid exome update

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

15:10 - 15:20

Looking Back, Thinking Ahead: What can clinical genetics service data tell us

Dr Sarah Wedderburn,
NHS Greater Glasgow & Clyde

15:10 - 15:20

Service Specification

Dr Catherine McWilliam, NHS Tayside

16:00 - 16:15

Establishing and Improving Clinical Pathways for People with Neurofibromatosis Type 1 (NF1) in Lothian

Dr Sheelagh Harwell, NHS Lothian

16:15 - 16:25

Discussion

Panel

16:25 - 16:30

Closing Remarks

Dr Sarah Wedderburn, NHS Greater Glasgow & Clyde

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