Houston researches tap into GenAI for communicating genetic test results
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Artificial intelligence in the health care setting has a lot of potential, and one Houston institution is looking into one particular use.
Researchers at Baylor College of Medicine’s Human Genome Sequencing Center have trained an AI assistant to explain genetic test results to patients. According to findings published in the Journal of the American Medical Informatics Association (JAMIA), the team has developed generative AI to understand and interpret genetic tests. They have also tested its accuracy against Open AI’s ChatGPT 3.5.
“We created a chatbot that can provide guidance on general pharmacogenomic testing, dosage implications, and the side effects of therapeutics, and address patient concerns,” explains first author Mullai Murugan in a press release. Murugan is director of software engineering and programming at the Human Genome Sequencing Center. “We see this tool as a superpowered assistant that can increase accessibility and help both physicians and patients answer questions about genetic test results.”
The initial chatbot training specifically targeted pharmacogenomic testing for statins, meaning a patient’s potential response to cholesterol-lowering drugs, as dictated by genetics.
Murugan explains why they decided to create their own chatbot in the key publication on statin pharmacogenomics was published in May 2022, four months after the training cutoff date for ChatGPT 3.5 in January 2022. Alternatively, her team’s technology uses Retrieval Augmented Generation (RAG) and was trained on the most recent guidelines.
How did the two AI assistants compare? Four experts on cardiology and pharmacogenomics rated both chatbots based on accuracy, relevancy, risk management, and language clarity, among other factors. Though the AI scored similarly on language clarity, Baylor’s chatbot scored 85 percent in accuracy and 81 percent in relevancy compared to ChatGPT’s 58 percent in accuracy and 62 percent in relevancy when asked questions from healthcare providers.
“We are working to fine-tune the chatbot to better respond to certain questions, and we want to get feedback from real patients,” Murugan says. “Based on this study, it is very clear that there is a lot of potential here.” Nonetheless, Murugan emphasized that there is much work still to be done before the program is ready for clinical applications. That includes training the chatbot to explain results in the language used by genetic counselors. Funds from the NIH’s All of Us Research Program helped to make the research possible.
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