Rare disease, genomics and the future

In the run-up to Rare Disease Day, we outline what constitutes ‘rare’ and how genomics is used in diagnosis and management

Direct-to-consumer genetic tests at an all-time high…

… but how can healthcare professionals make sure they are equipped to support patients who are worried and distressed about their results?  

Day in the life: trainee genetic counsellor

In the first article from a new series, STP trainee Alice Coulson looks at the invaluable role of genetic counselling in today’s health service
Rare-disease-family

UK rare disease strategy: the plan for implementation

Four years on from the government’s rare disease strategy, its implementation plan has been published. Here’s our summary of the key areas of focus