Cases reported in the NHS England Board paper demonstrating a benefit from WGS
| Demographics | Diagnosis | Method of diagnosis | Benefit |
|---|---|---|---|
| 4-year-old girl | Glut1 deficiency syndrome | WGS via 100,000 genomes project | Specialised treatment with a low-carbohydrate diet has led to symptomatic improvement |
| Three sisters with breast cancer | Breast cancer | Clinical diagnosis. No mutations identified in BRCA1 and BRCA2 genes on the NHS | Ongoing active participation in research via the 100,000 genomes project to further the knowledge of the causes of breast cancer |
| 10-year-old girl | Life threatening chickenpox infection; CTPS1 mutations identified | WGS via 100,000 genomes project | Understanding about why she is prone to infections. Altered her management as she is being considered for a bone marrow transplant as a potential cure |
| 29-year-old man | Severe learning disability; mutation identified in a new disease gene | WGS via 100,000 genomes project | Understanding the cause for his difficulties. Reassurance for family members that the new mutation in him is unlikely to affect the wider family |
Annex A cases from page 8.2