Healthcare utilisation following rapid whole genome sequencing in children with complex disease
Study code
DAA179
Lead researcher
Prof David Rowitch
Study type
Data only
Institution or company
University of Cambridge
Researcher type
Academic
Speciality area
Children and Young People, Genomics and Rare Diseases
Summary
This project aims to assess the healthcare needs of children with rare and complex medical conditions, with the aim of identifying opportunities to improve and streamline the care they receive. We will evaluate the healthcare utilisation of these children compared to the general paediatric population and explore factors that may be predictors of their care needs.
Children included in the project all have severe illness that could have a genetic cause. Their parents consented to family genetic testing to try to find a cause for their illness; some children received a diagnosis from this testing, but in others no cause was found. We will explore whether receiving a genetic diagnosis influences the long-term healthcare needs of children with rare and severe illness.
We will also aim to stratify the risk of children having exceptionally high care needs (especially GP and emergency care), based on their symptoms and initial illness presentation. We will aim to identify factors predicting which children would benefit from individualized, specialist care plans that could improve the quality and efficiency of their healthcare.