Inherited retinal diseases (IRDs), single-gene diseases that affect the retina, are rare and very difficult to diagnose because they involve alterations in one of many candidate genes. Outside of specialized centers, few specialists have sufficient knowledge of these diseases, making it difficult for patients to get proper tests and diagnoses. But now, British and German researchers have developed a system that could use artificial intelligence (AI) to offer a wider range of tests and improve efficiency.
Dr. Nicholas Pontikos, group leader at the UCL Institute of Eye Medicine and Moorfields Eye Hospital, London, UK, announced today (Saturday, June 10) at the European Society of Human Genetics annual conference that his team could develop an AI system I plan to talk about Eye2Gene, which is. A study to identify the genetic cause of IRD from retinal scans. “Identifying the causative gene from retinal scans is considered very difficult even among experts, but AI can achieve this with greater accuracy than most human experts.” says Dr Ponticos.
Researchers had access to a vast database of information on IRDs at Moorefields Hospital, covering over 30 years of research. More than 4,000 patients have undergone genetic diagnosis and detailed retinal imaging at Moorfields, making it the largest single-center patient dataset with both retinal and genetic data.
Identification of genes involved in retinal diseases is often performed using patient phenotypes defined using the Human Phenotype Ontology (HPO). HPO uses standardized medical terminology and structured descriptions of patient phenotypes (personal observable characteristics resulting from gene expression) to enable scientists and physicians to communicate more effectively. It is included. “However, HPO terminology is often an imperfect description of retinal image phenotypes, and the promise of Eye2Gene is that working directly from retinal images can provide a much richer source of information than HPO terminology alone.” ” says Dr. Pontikos.
The research team benchmarked Eye2Gene on 130 IRD cases for which whole exome/genome, retinal scans, and detailed HPO descriptions were available and had a known genetic diagnosis, and compared their HPO gene scores with Eye2Gene gene scores. compared. They found that Eye2Gene provided a rank of the correct gene in more than 70% of his cases with his HPO-only score or better.
In the future, Eye2Gene could be easily incorporated into standard retinal examinations, initially as a specialized hospital assistant to obtain a second opinion, and ultimately as a “synthetic” in the absence of such a person. It will be available as an “expert”. “Ideally, the Eye2Gene software would be embedded in a retinal imaging device,” says Dr. Pontikos.
The system must receive regulatory approval to demonstrate safety and efficacy before its use becomes more widespread. This future use of AI has the potential to be a more effective, less invasive, and more widely accessible approach to diagnose patients and improve management and treatment. “Further evaluation of Eye2Gene is needed to assess its performance in different types of IRD patients of different ethnicities, different types of imaging devices, and different types of settings (e.g., first-line versus second-line therapy). “Clinical trials will be required prior to our studies.”The system can be deployed in clinics as medical device software,” says Dr. Pontikos.
“We all know that seeing is believing, so we had some hope that AI-interpreted retinal scans could outperform HPO terms. , even though very specific HPO terminology was used, it was a pleasant surprise to see it: “Eye2Gene has the potential to be as effective or better than an HPO-only approach.” We expect AI to help patients and their families by making professional care more efficient, accessible and equitable,” he concludes.
Professor Alexandre Raymond, chair of the conference, said: “Real-world experts are essential, but the use of AI will help reduce stigma and, in the future, make diagnoses for everyone.”
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European Society of Human Genetics
