NHS Innovation Accelerator Fellow: Andrea Haworth
SAPIENTIA™ is a genome analytics software enabling healthcare professionals to interrogate the human genome for pathogenic mutations likely to be the cause of a patient’s inherited disease. This technology, developed from the Deciphering Developmental Disorders translational research study, is particularly relevant for rare diseases.
On average it takes over five years for patients to receive a diagnosis; by utilising genome and clinical data, SAPIENTIA™ facilitates the identification and interpretation of disease causing variants resulting in a speedier diagnosis and better clinical decision support for patients with rare genetic disease.
During the NIA, Andrea has included a focus on:
- Proactively supporting laboratories in their implementation of SAPIENTIA™ through training, events and the creation of an implementation toolkit
- Sharing of scarce expertise particularly around bioinformatics
- Demonstrating high levels of regulatory compliance
- Developing a new website to market SAPIENTIA™.
SAPIENTIA™ is now being used in ten NHS labs across England – nine of these while on the NIA. Andrea is also working with UCB Pharma Company and the New York Genome Centre. This year SAPIENTIA™ secured an Innovate UK grant for Multi-omic solutions for rare diseases and was awarded a Health Enterprise East Award.
Visit the website for more information.