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The Use of AI in the Detection of Rare Genetic Diseases

By Eva Zhou

Going to frequent check-ups as a pregnant person is important for the development of the child, as discovering diseases before their birth is important for the family. In some cases, like Down Syndrome, a common chromosome abnormality genetic disorder, is detectable through ultrasounds. However, rare genetic diseases exist, and discovering these as a baby develops is like putting together a puzzle. Doctors must work with lab results, lab data, and limited knowledge of genetic diseases to put together a diagnosis. This is where AI comes in because developing computer systems that can aid doctors in diagnosis of rare genetic diseases can save a lot of time.

One example of AI used to detect rare genetic diseases is a screening tool named FindEHR, which is also called Finding Individuals Needing Diagnosis through Electronic Health Records. Essentially, it is a large database containing patient records and the algorithm flags patients that may be at risk of an undetected disease. Then, the flagged patient will be viewed by genetic counselors and sent to healthcare providers to conduct further research. This database is so huge that humans could not possibly go through it all, but machines can, and at an unimaginable speed. This tool is helpful through its ability to diagnose patients, identify disease characteristics, and offer treatment options.

Furthermore, Fabric Genomics, offering an AI called Fabric GEM, is used by leading hospitals, labs, and academic centers around the world. Fabric GEM is capable of analyzing gene variants and identifying the root cause of a disease to offer patients the right treatment option. Its AI algorithm has successfully detected more than 90% of disease variants in infants. As a result, doctors are able to offer treatment to newborns much sooner. Fabric GEM’s results are able to guide clinicians and improve patient care without having to sacrifice accuracy for speed, where diagnosis is the hardest step.

AI could be used in the disease treatment world, too. Technology that has a large database of drugs and treatments are able to assess combinations that could offer the greatest chance of treating a genetic disease. For example, Healnet by HealX. This drug discovery is entirely AI-powered and combines medical research and literature, disease data, and biochemical information to predict relationships between different drugs. These results are then processed by scientists in a lab and if approved, they are sent into clinical trials. Since human brains are limited, this platform overcomes what humans are troubled by and is able to run millions of trials at once, finding connections that could be turned into new treatment options.

The development of AI in rare genetic disease treatment and discovery is exciting, because it can bring medicine to a whole new level. No matter how much information is input into a machine, the machine will always give results. As AI develops and becomes more intricate, the AI will be able to offer more in the medical world.


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