Positive preliminary results from the Rapid Paediatric Sequencing Project

The Rapid Paediatric Sequencing Project (RaPs) is a pilot project aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in a clinical setting. Successful results have been received from the first patients to have taken part.

The pilot phase of this project aims to identify 10 patients (run as family trios – a patient plus their two parents) from the paediatric intensive care unit (PICU) at Great Ormond Street Hospital (GOSH).

To date, a total of eight patients have been successfully enrolled. These patients were identified as having immediate clinical need, presented with a phenotype of genetic aetiology and for whom the rapid identification of a causative gene could have a positive impact on their clinical management.

The Rapid Paediatric Sequencing pipeline begins with patients being identified by a senior clinician on PICU. Blood samples are then collected from the patients which then undergo DNA extraction and sequencing.

Preliminary results show that actionable findings could be returned to the PICU clinicians within five days of the initial consent. Of the patients processed so far, clinicians have identified three genes known to cause the underlying disease and two genes that are candidates for the disease. This project is run by GOSgene, which is wholly funded by the NIHR Great Ormond Street BRC.