Researchers in genomics showed the findings of an automated virtual system for the diagnosis of genetic diseases in 13.5 hours.
Genetic diseases are always a special case because front-line doctors may not be familiar with them, so early diagnosis may not improve outcomes. If treatments are not implemented quickly, these diseases can progress rapidly to severe morbidity or mortality.
An investigation published in Nature Communications explored the use of Genome-to-Treatment also known as GTRx, an automated virtual system for genetic disease diagnosis and acute management guidance. The main element of this research was that, using the automated virtual platform, it was possible to make a diagnosis in 13.5 hours by means of accelerated whole genome sequencing.
Currently, 72,000 genetic disorders are known that account for a large proportion of pediatric morbidity and mortality, especially in intensive care, neonatal, pediatric and cardiovascular units. Furthermore, it is estimated that about 30% of the 140 million infants with rare genetic diseases do not survive to their fifth birthday. Therefore, the importance of an accurate and rapid diagnosis that allows treatment to be implemented as soon as possible.
“Lack of familiarity with the management of specific rare genetic diseases leads to delays in consultation and missed treatment opportunities that defeat the goal of rapid diagnosis. GTRx was developed both to increase the proportion of infants receiving optimal immediate treatment and to facilitate wider use of rapid diagnostic whole genome sequencing (rWGS), such as in local maternity hospitals staffed by front-line neonatologists. ”, explains the study.
The GTRx is a prototype system that uses 13.5 hours to perform automated diagnoses of genetic diseases, its main goal was to expand the use of rWGS by frontline clinicians who understand critically ill infants and children in ICUs.
However, it currently covers 500 genetic diseases with the characteristic that they progress rapidly, and your goal is to foresee the extension of the system to all known genetic diseases, “which will allow front-line doctors to play a much more active role. in the evaluation of possible genetic etiologies and their consequent therapies in their patients”, according to the authors of the study.
Learn more about Genome-to-Treatment: https://www.nature.com/articles/s41467-022-31446-6
