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
More Europeans Take Up Sport, but Major Gaps Remain Across Countries
More Europeans are exercising regularly than they were four years ago, but participation continues to vary sharply depending on where people live, their age, education and financial circumstances, according to a new European Commission survey.
The latest Eurobarometer survey on sport and physical activity found that 39% of respondents said they never exercise or play sport, down from 45% in 2022. Nearly half of the 26,508 people surveyed said they exercise or play sport every day or several times a week.
The results also showed wide differences between countries. Finland recorded the highest share of people exercising daily, at 21%, followed by Denmark at 20%. In both countries, another 59% of respondents said they exercise several times a week.
At the other end of the scale, 68% of respondents in Portugal said they never exercise or play sport. Greece and Romania followed, with 66% in each country reporting that they never take part in sport or exercise.
Time was the most commonly cited barrier among people who wanted to exercise more, with 37% identifying it as an obstacle. A lack of motivation or interest was mentioned by 26%, while 15% pointed to health problems or injury. Cost was cited by 12%.
Education and household finances were also closely linked to participation. Some 59% of people who continued their education until at least the age of 20 said they exercise or play sport several times a week. That compared with 23% among those who left education at 15 or younger.
Financial circumstances showed a similar divide. People who said they had the greatest difficulty paying their bills were twice as likely to report never exercising as those who rarely or never faced financial difficulties, at 54% compared with 26%.
“More Europeans are getting active, but the opportunity to take part still depends too much on income, age and education,” said Roxana Mînzatu, Executive Vice-President for Social Rights and Skills, Quality Jobs and Preparedness.
The survey also highlighted a significant age gap. Nearly three-quarters of people aged 15 to 24 exercise or play sport at least several times a week, compared with 25% of those aged 75 and over. Health problems or injury were the main barrier for older respondents, while younger and middle-aged people were more likely to cite a lack of time.
Physical activity linked to everyday life also increased. Active commuting rose from 24% in 2022 to 37%, while 72% of respondents said they now walk for at least 10 minutes at a time.
The survey found, however, that some Europeans do not consider their neighbourhoods suitable for walking or cycling, potentially restricting opportunities for active travel.
Mînzatu said affordable sport and safe places to exercise should be available close to where people live, including for children from families unable to afford club fees, older people and those with disabilities.
Health
Congenital Infections Linked to Higher Risks of Autism and Intellectual Disability
Children born with certain infections acquired during pregnancy face substantially higher risks of autism and intellectual disability later in life, according to a study of more than 3.7 million people in Sweden.
Researchers found that children with congenital infections were about three times more likely to be diagnosed with autism and more than seven times more likely to receive a diagnosis of intellectual disability than those without such infections.
The findings suggest that infections transmitted from a pregnant woman to her foetus may have lasting effects on brain development, although the study identifies an association rather than proving that the infections directly cause autism or intellectual disability.
The research focused on TORCH infections, a group that includes syphilis, rubella, toxoplasmosis, cytomegalovirus and herpesvirus. These infections can cross the placenta and affect the developing foetus, potentially increasing the risk of miscarriage, stillbirth and other pregnancy complications.
“Although these congenital infections are rare, some of them can be prevented, which makes them important from a public health perspective,” said Reneé Gardner of the Department of Global Public Health at Karolinska Institutet, who contributed to the study.
The researchers examined people born in Sweden between 1987 and 2021 and followed them for up to 30 years. Among the 3.7 million participants, 975 had been diagnosed with a congenital TORCH infection.
Although congenital infections accounted for only a small proportion of autism cases across the population, the risk among affected children was considerably higher. The researchers estimated that about one in five children born with a TORCH infection could later develop autism.
The study also found elevated risks of intellectual disability across different levels of severity. The risk of severe to profound intellectual disability was as much as 30 times higher among children with a congenital infection than among those without one.
The researchers found evidence of an impact on educational outcomes even among people who were not diagnosed with autism or intellectual disability. A total of 420 participants with a TORCH infection showed poor school performance without receiving either diagnosis.
Congenital cytomegalovirus, or CMV, is the most common of these infections globally and affects roughly one in 150 newborns. Its burden is substantially greater in low- and middle-income countries.
The researchers said the findings highlight the importance of prevention, particularly in regions where these infections are more common. They pointed to vaccination programmes and other preventive measures as important tools for reducing congenital infections.
They also called for improved identification of affected newborns. Current screening systems, including those used in Sweden, may miss asymptomatic infections because universal screening for TORCH infections is not routinely carried out.
The authors said stronger screening and prevention strategies could help identify children at risk earlier and improve long-term support and care.
Health
AI Chatbots Make Faster, Less Nuanced Kidney Transplant Decisions Than Doctors
Artificial intelligence chatbots may make faster and more confident decisions than human doctors when determining which patient should receive a life-saving kidney transplant, but a new study found that the systems often rely on fewer factors and show less sensitivity to the ethical complexity of such choices.
Researchers from Penn State University in the United States compared decisions made by large language models (LLMs) with choices made by people in earlier studies on kidney allocation. The researchers presented AI models with hypothetical cases based on existing datasets in which human participants had previously chosen between two patients competing for a single available kidney.
The patients were described using characteristics including age, health and drinking habits. Both were considered eligible for the transplant, requiring the decision maker to determine which patient should receive the available organ.
The researchers tested the AI systems in several ways. Some scenarios focused on individual characteristics, while others combined several traits to examine how the models handled competing considerations. In some tests, participants and AI systems were also given the option of flipping a coin, allowing researchers to assess indecision as part of moral decision-making.
Human participants generally placed greater importance on age, often favouring younger patients over older patients. Many of the AI models, however, placed greater weight on lower alcohol consumption.
Hadi Hosseini, the study’s lead researcher at Penn State University, said the findings showed that AI chatbots can diverge from human values when weighing characteristics of patients.
The researchers found that human decisions tended to consider several factors together and were more sensitive to context. LLMs, by contrast, frequently focused on a single characteristic when making their choices.
Another difference involved uncertainty. Human participants were more likely to recognise that organ allocation can involve competing ethical considerations and that there may not be one objectively correct answer. AI models generally showed little hesitation and committed to one choice.
John Dickerson, chief executive officer of Mozilla.ai and a collaborator on the study, said humans recognise ambiguity when allocating scarce resources and use debate to shape how such decisions are made.
The findings come as AI systems are increasingly being used in healthcare for clinical workflows, diagnosis, treatment planning and decisions involving limited medical resources.
The researchers said kidney allocation presents a particularly important test because decisions over deceased-donor and living-donor organs involve medical, ethical and moral considerations.
Hosseini said the ethical stakes are high because decisions involving organ allocation can directly affect patients’ lives. He stressed that the study was not intended to encourage replacing professional medical judgment with AI.
Instead, the researchers said understanding how AI systems behave in high-stakes situations is becoming increasingly important as individuals, organisations and businesses use AI to make decisions or provide recommendations.
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