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
World Cup Emotion Can Strain the Heart, Cardiologists Warn Fans at Risk
As the World Cup begins, medical experts are cautioning football fans with underlying heart conditions that the emotional intensity of matches can place unexpected strain on the cardiovascular system.
Cardiologists say that the excitement, tension, and anxiety generated during high-stakes games can trigger physical reactions similar to intense exercise, raising heart rate, blood pressure, and stress hormones.
“Intense emotions, whether positive or negative, can act as ‘precipitating risk factors’ for cardiovascular events such as heart attack,” said Paola Santalucia, a cardiologist and board member of the European Heart Network.
She explained that moments of extreme excitement, such as a decisive penalty shootout or a last-minute goal, may pose risks for people already living with heart disease. Those with additional risk factors, including hypertension, obesity, or smoking habits, are also advised to be cautious during emotionally charged matches.
Research using wearable devices has shown that during major football events, some fans experience heart rates climbing as high as 150 beats per minute. That level is comparable to sprinting and reflects how strongly the body reacts to emotional stress.
A study examining supporters during the 2025 German Cup final found that even watching from home can significantly affect physiological responses. “They still had an increase in heart rate that compares to walking, even though they didn’t walk,” said Christian Deutscher, professor of sports economics at Bielefeld University and co-author of the study.
He noted that the most intense reactions often occur not during goals themselves, but during moments of uncertainty such as VAR checks, penalty shootouts, or shots striking the post. These unpredictable situations, he said, are what drive the strongest emotional and physical responses among fans.
Deutscher also pointed out that stadium spectators may experience even greater strain due to environmental factors such as heat and alcohol consumption.
However, experts emphasize that football itself is not inherently dangerous. Instead, it is the body’s natural response to excitement that can create temporary stress.
“The adrenergic stimulation is at its max: extreme high blood pressure, high heart rate, and adrenaline, cortisol, skyrocketing,” said Dan Atar, professor of cardiology at Oslo University Hospital. In rare cases, he added, this surge can contribute to the rupture of arterial plaque in vulnerable individuals, potentially leading to a heart attack.
Atar stressed that such events can occur in everyday situations as well, including physical exertion like shoveling snow. “It is in no way dangerous to watch a football game,” he said. “All this is physiologic. It’s not dangerous to be excited.”
Still, he acknowledged that combining emotional stress with alcohol, heat, and pre-existing conditions can increase risk for some viewers.
Doctors advise those at higher risk to continue prescribed medications, limit alcohol intake, avoid smoking, and watch for warning signs such as chest pain or irregular heartbeat.
“The key message is not to avoid enjoying the match, but to do so with moderation and awareness,” Santalucia said.
Health
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Health
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