NHS Innovation Accelerator Fellow: Andrea Haworth

Overview

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.

Progress made through the NIA

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™

Impact

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.

Provider testimonial

“We’ll be working alongside Congenica to deliver the vision that NHS England and Genomics England have of using genomic testing to unlock the potential of genetic medicine to benefit our patients and transform the NHS.”

Professor Graeme Black, Professor of Genetics and Ophthalmology, Central Manchester University Hospitals Foundation Trust

Useful contact

Visit the website for more information