The Natural Communications recently included a study that reviewed how clinical decisions are provided by an automated tool called the Genome-to-Treatment (GTRx), focusing on diagnosis for genetic ailments and their treatments. The initial results took less than 13.5 hours to be returned rather than the 5 years that some diagnoses take. The tool includes diagnostics and references treatments for 500 genetic diseases. Testing the GTRx was a collaborative effort between health systems and different organizations. Being able to more quickly diagnose these types of diseases is important because they tend to have higher levels of morbidity, and they tend to be more lethal to children. With more than 7,200 genetic diseases, infants and children are at high risk from these diseases, with roughly 140 million suffering from rare ailments. Of these, it is estimated that 30% won’t live to see their 5th birthday.
By diagnosing the illness as early as possible following childbirth could increase survival rate and alleviate suffering through early treatment. This was what led to researchers developing the technology to try to catch the problems even before symptoms show or are obvious. Initially, they worked to reduce how long the analyses took, and they managed to get that to 13.5 hours. The developed technology was then combined with established genome sequencing capabilities. Researchers are currently working with a prototype, but if it proves to be as effective as the initial work promises, other types of diagnostics will be added to help with the diagnosis of newborns. After the initial tests are run and a diagnosis is reached, the GTRx provides treatment or next steps to improving the health of infants born with genetic diseases.
You can learn more about the potential for the GTRx at Clinical Decision Support Tool Provides Effective Precision Medicine Guidance.