Clinical Decision Support Tool Provides Effective Precision Medicine Guidance

A study published this week in Nature Communications shows that an automated clinical decision support tool for genetic disease diagnosis and treatment can provide accurate results and disease management guidance within 13.5 hours.

The tool, known as Genome-to-Treatment (GTRx), is a virtual disease management system that integrates whole genome sequencing to provide diagnostics and guidance for 500 diseases, according to a press release discussing the study’s findings. The study was completed in collaboration with multiple organizations, vendors, and health systems.

The study states that the 7,200 genetic disorders currently known to medical science result in high levels of morbidity and mortality in children, specifically in neonatal, pediatric, and cardiovascular patients. Approximately 140 million children worldwide suffer from rare genetic diseases, and experts estimate that 30 percent of them will not survive until their 5th birthday.

The researchers further note that the progression of these diseases is often extremely rapid in ICUs, which can lead to increased morbidity or mortality without timely diagnosis and treatment.

These insights spurred the researchers to develop a precision medicine tool that could be used for rapid diagnosis and clinical decision-making since many clinicians seeing these patients are not rare genetic disease experts.

To create the tool, the research team began by attempting to reduce the turnaround time of rapid whole genome sequencing. After reducing turnaround time to 13.5 hours, the team combined this faster whole genome sequencing capability with automated disease interpretation technology and genetic disease diagnostics to create GTRx.

According to the press release, GTRx is designed to provide immediate treatment guidelines to clinicians after a diagnosis is reached. This can help them understand the identified genetic disease and possible treatment options, such as therapeutics, surgery, medical devices, or other interventions.

“GTRx is intended to provide immediate guidance to frontline neonatologists and intensivists to select optimal therapies for critically ill infants and children in intensive care units as time is of the essence,” said Stephen Kingsmore, MD, president and CEO of Rady Children’s Institute for Genomic Medicine and principal investigator of the study, in the press release.

GTRx is currently a prototype, but it is being integrated into another diagnostic and precision medicine guidance tool known as BeginNGS, which will screen newborns for approximately 400 genetic diseases with known treatment options using GTRx. It is designed to flag genetic conditions before symptoms begin, unlike current pediatric uses of whole genome sequencing, which focus on children who are already ill.

Once a diagnosis is determined, BeginNGS reportedly uses GTRx to provide clinical decision support to decrease delays in precision treatment.

In the future, researchers plan to further validate GTRx and expand its capabilities to a broader array of genetic diseases.