Health
US Researchers Develop New Tool to Predict Disease Risk from Rare Genetic Mutations
A team of scientists in New York has developed a new model designed to help doctors interpret complex genetic test results and provide patients with clearer guidance on their health risks. The research, published in the journal Science, could improve early detection of serious conditions and reduce unnecessary medical treatments.
Genetic testing can identify changes, or variants, in a person’s DNA, but interpreting the results is often difficult. While some variants directly cause disease, many others have little or no effect, leaving doctors and patients uncertain about what the findings mean. The problem is compounded by the fact that most diseases result not from a single mutation, but from the combined influence of multiple genes and environmental factors.
To address this challenge, researchers at the Icahn School of Medicine at Mount Sinai built a model that draws on both genetic information and electronic health records (EHRs), which include lab results and a patient’s medical history. By combining these data sources, the model can calculate the likelihood that an individual with a specific variant will develop conditions such as breast cancer or polycystic kidney disease.
“Traditional genetic tests often leave patients in limbo, because the results don’t always provide a clear answer,” said Professor Ron Do, one of the study’s senior authors. “By using real-world medical data—like cholesterol levels and blood counts that are already part of routine care—we can make far more accurate predictions about disease risk.”
The researchers trained the model on more than one million health records and applied it to patients carrying rare genetic mutations. Each patient was assigned a risk score between zero and one, reflecting the probability of developing a particular condition. In total, the team calculated risk scores for more than 1,600 genetic variants.
In some cases, the tool clarified the significance of variants previously labelled as “uncertain.” For example, the model revealed strong links between specific mutations and known diseases, providing new insights for clinicians.
Dr. Iain Forrest, the study’s lead author, said the tool is intended to support, not replace, doctors. “This model could guide decisions on whether a patient needs further screening, preventive steps, or reassurance that their genetic result poses little risk,” he explained.
The team is now working to expand the model by including a wider range of genetic variants, more diseases, and a more diverse patient population to ensure broader accuracy.
“Ultimately, our work highlights a future where clinical data and genetic information can be combined to give patients more personalised and actionable answers,” Do said.
If widely adopted, the approach could change the way genetic testing is used in medicine—helping patients avoid unnecessary interventions while ensuring those at higher risk receive timely care.
Health
Novo Nordisk Teams Up With OpenAI to Accelerate Drug Discovery Using AI
Danish pharmaceutical giant Novo Nordisk has announced a new partnership with OpenAI aimed at integrating artificial intelligence across its drug development and business operations.
The collaboration, revealed on Tuesday, is expected to help the company identify new treatments more quickly and improve how medicines are developed, produced and delivered to patients. Novo Nordisk said the use of advanced AI tools will allow it to analyse vast and complex datasets, uncover patterns that were previously difficult to detect, and shorten the timeline from research to patient access.
Chief executive Mike Doustdar said the agreement marks an important step in positioning the company for the future of healthcare. He noted that millions of people living with chronic conditions such as obesity and diabetes still require better treatment options, adding that new therapies remain to be discovered.
Novo Nordisk is widely known for its leading treatments in these areas, including Ozempic and Wegovy, which have seen strong global demand in recent years. The company said integrating AI into daily workflows will allow its teams to test ideas more rapidly and bring innovations to market at a faster pace.
The partnership will not be limited to research and development. Both companies plan to apply AI tools to manufacturing processes, supply chains and commercial operations, with pilot programmes already set to begin. Full integration is expected by the end of the year.
Sam Altman said artificial intelligence is transforming industries and has the potential to significantly improve outcomes in life sciences. He added that the collaboration would support faster scientific discovery and more efficient global operations, helping to shape the future of patient care.
The move comes as pharmaceutical companies increasingly turn to AI to gain an edge in drug discovery. Novo Nordisk has already invested in innovation through initiatives such as the Danish Centre for AI Innovation, developed in partnership with Nvidia and Denmark’s export and investment fund.
Competition in the sector is intensifying. US-based Eli Lilly, a key rival in the weight-loss drug market, recently announced its own AI-focused collaboration with Insilico Medicine to develop new treatments. The agreement, valued at up to $2.75 billion, highlights the growing role of AI in reshaping pharmaceutical research.
Industry analysts say such partnerships reflect a broader shift toward data-driven innovation in healthcare, where the ability to process and interpret large volumes of information is becoming increasingly important.
For Novo Nordisk, the partnership with OpenAI signals a commitment to staying at the forefront of this transformation, as companies race to harness technology in the search for new and more effective treatments.
Health
Study Finds AI Models Fall Short in Early Medical Diagnosis
A new study has found that artificial intelligence language models still struggle with one of the most critical aspects of medical care, raising concerns about their use without human oversight.
Researchers from Mass General Brigham reported that AI systems failed to produce an appropriate early diagnosis more than 80 per cent of the time. The findings, published in JAMA Network Open, highlight ongoing limitations in how these systems reason through complex clinical scenarios.
The study examined 21 large language models, including systems developed by OpenAI, Google and xAI. Among those tested were versions of GPT, Gemini, Claude, Grok and DeepSeek.
Researchers used a structured evaluation tool known as PrIME-LLM to assess how well the models handled different stages of clinical reasoning. These stages included forming an initial diagnosis, ordering tests, reaching a final diagnosis and planning treatment. The models were tested using 29 standardised clinical scenarios, with information introduced gradually to mirror real-life patient cases.
While the systems showed relatively strong performance when identifying a final diagnosis, their ability to generate a differential diagnosis — a key step in distinguishing between conditions with similar symptoms — remained limited. This early-stage reasoning is widely regarded as essential in medical decision-making.
Marc Succi, a co-author of the study, said current models are not ready for independent clinical use. He noted that differential diagnosis represents a core part of medical practice that AI has yet to replicate effectively.
Another researcher, Arya Rao, said the findings show that AI performs best when given complete information but struggles when cases are still developing. She explained that the models are less reliable in situations where doctors must make judgments based on limited or uncertain data.
Despite these shortcomings, the study identified a group of higher-performing systems, including advanced versions of GPT, Gemini, Claude and Grok. These models achieved final diagnosis success rates ranging from around 60 per cent to over 90 per cent when provided with detailed clinical data such as lab results and imaging.
Experts not involved in the research also stressed the importance of caution. Susana Manso García said the findings reinforce that AI should not replace professional medical judgement. She advised that patients continue to seek guidance from qualified healthcare providers when dealing with health concerns.
The study concludes that while AI has made progress, it still requires close human supervision in clinical settings. Researchers say the technology shows promise as a support tool, but its current limitations mean it cannot yet be trusted to make independent medical decisions.
Health
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