BSGM Lunch & Learn - March 2026: Rare Diseases Action Plans and Clinical Genomics Transformation Programme
A BSGM 'Lunch & Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all
Details
When? Wednesday 25 March 2026, 12:30 to 13:45
Where? Zoom
A BSGM 'Lunch & Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all
Please note: This Lunch and Learn will be 15 minutes longer than usual to allow sufficient time for updates from the below plans and programmes. There will be time at the end of both talks to ask questions to all speakers.
Driving change through England's Rare Diseases Action Plans
The fifth England Rare Diseases Action Plan was published on 27 February 2026. In this action plan we recognise rare diseases as a health inequality and introduce a new action to address this. The action plan reports on progress across the four priorities of the framework. Highlights include:
- MHRA's commitments to major reform in regulation of rare therapies
- NICE's publication of a new quality standard for rare diseases
- the development of a new NHS framework for individualised genetic therapies
- new funding for 2 pilot centres for people with undiagnosed rare conditions
This talk will reflect on progress over the last five years and what should follow when the Framework expires in January 2027.
Speaker
Kath Bainbridge, Head of Rare Diseases and Emerging Therapies, Office for Life Sciences, Department of Health and Social Care. Kath leads the Rare Diseases and Emerging Therapies policy team, in the Office of Life Sciences. The team has responsibility for: policy on rare diseases; genomics; emerging technologies associated with human genetics; stem cell donation; and genetic testing and insurance. This includes delivering against the priorities of the UK Rare Diseases Framework through developing and reporting on England's Action Plans. The team works closely with the National Institute for Health and Care Research and with a broad range of public sector delivery partners and wider stakeholders, placing robust evidence and the patient voice at the heart of their work.
Update on the Clinical Genomics Transformation Programme and Service Specification
An update on the NHSE Clinical Genomics Transformation Programme and Service Specification followed by a Q&A.
The existing NHSE Clinical Genetics Service specification was published in 2013. Since that time the NHS Genomics Medicine Service was established in 2018, and there have been significant developments in genomic medicine that need to be reflected in the requirements and practice of the Clinical Genetics Service. Transformation that includes a new future proofed service specification is required to support the Clinical Genetics Service to evolve and continue to deliver high quality care for patients.
The existing NHSE Clinical Genetics Service specification was published in 2013. Since that time the NHS Genomics Medicine Service was established in 2018, and there have been significant developments in genomic medicine that need to be reflected in the requirements and practice of the Clinical Genetics Service. Transformation that includes a new future proofed service specification is required to support the Clinical Genetics Service to evolve and continue to deliver high quality care for patients.
Speakers
- Emma Baple, Clinical Genomics Service Working Group Chair, Interim National Specialty Advisor for Genomics
- Alexandra Pickard, Deputy Director of Genomics Policy and Commissioning
- Sarah Wynn, Chief Executive Officer of Unique
- Roberta Rizzo, Chair of the Association of Genetic Nurses and Counsellors
All sessions will be recorded and available via the BSGM website for members unable to attend live.
If you are unable to attend and have any questions you would like to submit in advance please send them to events@rsb.org.uk
Past events
For recordings of our previous talks in this series, please see the members area of the BSGM website: Lunch and Learn.
Cost and booking
This event is free to attend and open to all BSGM members (ACGS/AGNC/CGS/CGG/FGG) as well as non-members. Advanced registration to watch live is essential through the link at the top of the page and the Zoom meeting link will be circulated ahead of the event.