Rare Disease

Our main priority is to ensure equitable access to genomic testing and to use latest science and technology to end (wherever possible) the diagnostic odyssey – uncertainty surrounding diagnosis – experienced by many patients, often children, who present with a range of life-changing or life-limiting symptoms from birth.

The National Test Directory contains all NHS-funded genomic tests for Rare and Inherited Disease.

Key Priorities

Throughout 2024 and beyond, we will focus on a number of priorities to improve equity of access to genomic testing for the local population. These include:

• Improving the quality and appropriateness of genomic test ordering from primary care and other specialties – through education and process improvements – in order that results are more rapidly returned to patients.
• Addressing inequity of access to genomic testing as evidenced by data analysis and clinical enquiry, in collaboration with clinical teams, patients and patient groups (where appropriate).
• Contributing to practical learning resources to develop the workforce, e.g. Neurology CPI.
• Genomic Networks of Excellence – providing clinical leadership within the rare disease network, specifically to advance developments in mitochondrial testing.
• Newborn Genome Programme – co-ordinating support across the region, working with Genomics England and Trust partners to implement the Generation Study.
• Further developments in key pathways, including ICC and Sudden Cardiac Death

To help focus and co-ordinate our efforts, we have set up a new Genomics Clinical Operational Group for Rare Disease, led by Dr. Jackie Cook, Clinical Director for Rare Disease in the NEY GMS.

Legacy workstreams in rare disease are:

• 100,000 Genomes
• Monogenic Diabetes
• Familial Hypercholesterolaemia
• Rare Disease Case Finding
• Rare Disease Primary Care
• Pathology Accelerator
• RNA Sequencing