Diagnosing a rare genetic disease can be like putting together a jigsaw puzzle. Doctors work to create a complete picture of many different parts. They use test and lab results, patient information, and limited knowledge about over 7,000 rare diseases.
The final picture is often unclear during the search for a diagnosis – a process that can take time, money and an emotional toll for patients and their families. The good news is that efforts are being made to improve the time taken to reach a diagnosis of a rare disease.
+ Artificial intelligence, Goodyear and imagination versus execution
Researchers at the UCL Institute of Ophthalmology and Moorfields Eye Hospital have developed artificial intelligence (AI) technology that can predict which genes have pathogenic variants based on a retinal scan in individuals with inherited retinal diseases.
The routine time for a genetic diagnosis is more than five years, which is problematic for a number of reasons and costs health care providers and systems a lot of money.
Genomic sequencing is now providing a new route for diagnosing some rare diseases, including inherited retinal diseases, but overall this method still only provides answers for less than half of those affected.
After creating Eye2Gene, Pontikos and his colleagues initially trained the system using data from more than 1,000 patients with inherited retinal diseases. They then tested the system using information from 130 individuals with a retinal disease and a known genetic diagnosis, genome or exome data, retinal scans and detailed descriptions of HPO. The HPO gene score given to each case by the Exomiser program was compared with the Eye2Gene scores.
In over 75% of cases, Eye2Gene selected the correct gene with an equal or better score than the Exomiser program.
In Brazil, the estimated incidence of rare diseases ranges from 1 to 2,000 individuals. Some of the diseases are more common than others. For most of them, genetic testing is the only one capable of diagnosing the condition with certainty. There is no cure for inherited retinal diseases, but some treatments are in the research stage.
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