FH Identification service screens 100th patient

We're pleased to report that the team behind our Familial Hypercholesterolaemia (FH) identification service have screened their 100th patient this month. We are working with primary care across Norfolk & Waveney to communicate about the service to GPs and patients.

If you work at Norfolk and Norwich University Hospitals you may have spotted the team (Shelina and Javier) on page 9 of the latest PULSE magazine. You can read more about the project on our website and a news article from October on our progress here.

Healthcare professionals can find education resources, pathway guidelines, clinical documents, patient support information and case studies all in one place, to support them in embedding genomics in cancer pathways and their practice by tumour site.

Breast cancer is the first tumour site available, to be followed by colorectal and gynaecological cancers. Later in the year, lung, prostate and haematological cancers will also go live.

Many thanks to everyone involved in raising awareness on Thursday 29 February for Rare Disease Day. We've included some highlights in the image below, including the hundreds of conversations we were able to have with patients and staff on our information stands at our Cambridge, Nottingham, Norfolk and Leicester NHS Trust partners. We've also included some links to videos we produced for Rare Disease Day. 

If you want to find out more about requesting genomic testing for rare diseases, 

the NHS England Genomics Education Programme is beginning a new run of its popular, practical online course Genomics in the NHS: A clinician’s guide to genomic testing for rare disease. For East region testing information and resources see our Rare and Inherited Disease web pages.

Podcast: The Road to Genome

• Applications reviewed by NHS England and Test Evaluation Working Groups
• Impact assessment with Genomic Laboratory Hubs 
• Assurance and governance approvals
• 1 January 2025 Genomic Laboratory Hub implementation starts
• Test Directory published and Genomic Laboratory Hubs implement changes 1 April 2025

Applications that meet the Fast-Track criteria will be considered at any point throughout the annual process. The process for submitting a Fast Track application is detailed in the ‘Fast Track process’ on the NHS England website.

Genomics BITE: R445 Testing Pathway

The R445 pathway is a new addition to the National Testing Directory and is expected to be implemented into maternity services by 1 April 2024. The speakers will provide an overview of this pathway and practicalities for colleagues in the East of England and East Midlands.

It will cover:

• R445 testing pathway and eligibility
• An overview of non-invasive prenatal testing (NIPT)
• Practicalities and Resources
• Experiences in practice

Our next Paediatric Genomics Forum takes place on Thursday 28 March at 12.30pm. Join Community Paediatrician Dr Tracey Davis to find out 'How surprise results from genomic testing have influenced my practice'. The session will also cover:

• Microarray as a genomic test; the consent conversation I have
• The importance of a microarray; reasons why I request this test
• Using information from Unique (rarechromo.org) as a clinician and to support parents
• Types of microarray used in the East Genomic Laboratory Hub; array CGH and SNP arrays

This month over 60 healthcare professionals - including midwives, consultants, clinical scientists, genetic counsellors, antenatal and newborn screening leads and many more - attended our first ever Prenatal Genomics Forum on the subject of Genomic Testing in Fetal Medicine: Clinical and legal implications of missed diagnosis.

Resources for the Prenatal Genomic Forum - including meeting recordings and slides - have been added to our FuturesNHS workspace. Anyone with an NHS email address can request access to this workspace.

The next Prenatal Forum on 14 June 2024 will look at Prenatal genomic testing opportunities: Lessons learnt through case studies. You can register your place here.

Our counterparts in the South East are hosting a session on Pharmacogenomics on 19 March which covers Implementing pharmacogenomics in the NHS; the new Pharmacogenomics & Medicines Optimisation Network of Excellence; Implementing a Point of Care Pharmacogenomic Test to Reduce the Risk of Ototoxicity with Aminoglycosides and Optimising Psychosis Therapy with Genomics.

Find out more and register your free place here.