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Rare Disease Search Adds Large Language Model A.I.

Artificial intelligence graphic

(Seanbatty, Pixabay)

15 May 2023. A company offering a search engine to help diagnose rare diseases is integrating generative models from Open AI into its artificial intelligence algorithms. The company FindZebra ApS in Copenhagen, Denmark is based on research by computer scientist Ole Winthur at Technical University of Denmark, or DTU, its scientific founder.

The FindZebra search engine was first introduced in 2013 to help medical professionals include rare diseases in their diagnoses from symptoms reported by patients. Up that time, says FindZebra, Google and even PubMed search inquiries on their own returned few results featuring rare diseases, also called orphan diseases. A 2021 study finds between 5,000 and 8,000 rare diseases in the world, with about 80 percent of genetic origin. The Orphan Drug Act defines rare diseases in the U.S. as those affecting fewer than 200,000 people in the country, but the number of individuals with a rare disease is estimated at 30 million, or one in 10 Americans.

Winthur and colleagues at DTU study machine learning with algorithms using neural network statistical models that process large volumes of data, applied to a range of disciplines including bioinformatics. FindZebra says its algorithms process symptom descriptions and other clinical information with freely available medical databases and open-source retrieval software, to return possible rare disease and genetic origin matches.

GPT trained further by humans

Open AI is a developer of artificial general intelligence systems or generative A.I. based on large language models. These models use deep learning techniques that emulate human brain functions to reveal underlying relationships in the data, often trained by large-scale databases. Generative A.I. makes possible text and data summarization and prediction in understandable human language. Open AI’s recent release of ChatGPT, a conversational generative A.I. engine, has become an introduction to A.I. for a large segment of the population.

An Open AI product getting less attention is InstructGPT that uses large language models, but trained further by human interactions, called reinforcement learning from human feedback, to follow instructions. Open AI says it uses InstructGPT to improve the safety of its ChatGPT A.I. products and reduce toxic outputs. In a paper submitted last year and revised in Jan. 2023 but not yet peer-reviewed, Winthur and associates combined InstructGPT and Codex, an Open AI system for code creation, to answer conversational medical questions in a chain-of-thought or step-by-step conversation. The results from 100 medical exam samples show the system can provide close to human-level performance, from 60 to 78 percent, on three different databases.

FindZebra says its search algorithms now access deep learning functions with an application program interface or API into Open AI’s GPT large language models. An API is code with a defined set of rules that enable different software packages to communicate and share data. Software companies often publish APIs to encourage integration of their software with customers.

Winthur believes the integration of GPT with FindZebra will be a transformative step for diagnosing rare diseases. “As the digital landscape evolves,” says Winthur in a FindZebra statement released through Cision, “it’s important that we persist in our innovation and improvement of our technology to ensure those affected by rare diseases have access to reliable and accurate information. The application of OpenAI’s cutting-edge GPT technology will aid us in this endeavor, making a significant impact on countless lives.”

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