Improving Rare Disease Diagnosis in the 100,000 Genomes Project (UK 100K)

The UK 100,000 Genomes Project was a globally unique translational research program established to collect clinical data and undertake whole genome sequencing (WGS) on 85,000 patients with undiagnosed rare disease or cancer from the UK National Health Service (NHS). The aims of the project were:
  • To bring benefit to patients
  • To create an ethical and transparent program based on consent
  • To enable new scientific discovery and medical insights
  • To kickstart the development of a UK genomics industry

The project has sparked huge global interest and has provided a template for other largescale / national genome projects.

During this webinar, you will hear from Dr Meriel McEntagart, a consultant clinical geneticist at St George’s Hospital in London, who was directly involved in the 100,000 project. Dr McEntagart will be joined by Helen Savage DipRCPath, a clinical scientist from Congenica - a key partner of Genomics England from supporting the initial pilot project, the findings of which are discussed in this webinar, to being chosen as the sole clinical decision support platform provider for rare disease for the new National Genomic Medicine Service. Helen is also co-author of 100,000 Genomes Pilot on Rare Disease Diagnosis in Health Care – Preliminary Report, which appeared in New England Journal of Medicine last year.

Together they will discuss the ground-breaking 100,000 Genomes Project and reveal:

  • What are the clinical and technical challenges for diagnosing rare disease
  • How the project worked and who was involved
  • Highlight case studies from the project that demonstrate its ability to prove pathogenicity


meriel_mcentagart_large (2)Dr Meriel McEntagart

Dr McEntagart is a consultant clinical geneticist at St George’s Hospital in London, practicing in general clinical genetics with a specialist interest in neurogenetics, particularly the genetics of neuromuscular disorders. Dr McEntagart qualified in medicine in Ireland in 1991 (MBBS) and received her CCT in clinical genetics in the UK in 2004. As part of her academic training in genetics she undertook an MSc in clinical genetics at UCL in 1998 and completed her MD thesis in 2003.

She continues to maintain an interest in genetic research publishing work with national and international collaborators.

  • Fellow: Royal College of Physicians (UK)
  • Member: British Society for Human Genetics(BSHG)

Helen Savage smallHelen Savage DipRCPath

Helen is the lead clinical scientist, product innovation at Congenica and has 12 years’ experience working in the NHS and biotech industry. Helen is skilled in variant interpretation across rare disease and cancer, feeding her clinical experience into product management in Congenica, to develop a best-in-class software solution for the analysis and interpretation of genetic data for patients with rare disease.