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
Global Mental Health Cases Near 1.2 Billion as Anxiety and Depression Drive Sharp Worldwide Rise
A major global analysis has found that mental health conditions have surged to an estimated 1.2 billion people worldwide, driven largely by steep increases in anxiety and depression over the past three decades.
The findings, published in The Lancet as part of the Global Burden of Disease Study 2023, show that the number of people living with mental disorders has almost doubled since 1990, marking a 95% rise. Researchers say major depressive disorder and anxiety disorders have seen even sharper growth, increasing by 131% and 158% respectively, making them the most prevalent mental health conditions globally.
The report describes mental illnesses as widespread conditions that create long-term disability and significant human suffering. It also highlights broader consequences for economies and public services, including reduced productivity, lower workforce participation and increasing pressure on health and welfare systems.
Researchers estimate that in 2023 alone, around 620 million females and 552 million males were affected by mental health conditions. While the overall burden is rising across both sexes, the study points to notable differences in the types and prevalence of disorders.
Among women, depression and anxiety were the most commonly reported conditions, alongside higher rates of eating disorders such as anorexia nervosa and bulimia nervosa. The report links this disparity to a mix of biological, social and structural factors, including exposure to domestic violence, sexual abuse, gender inequality and reproductive health-related changes.
In contrast, neurodevelopmental and behavioural disorders, including attention deficit hyperactivity disorder (ADHD), conduct disorder and autism spectrum conditions, were more frequently diagnosed in men.
Teenagers aged 15 to 19 were identified as the group experiencing the highest mental health burden globally, raising concerns about early onset of conditions and insufficient preventive care for young people.
The study identifies several key risk factors associated with mental illness, including childhood sexual violence, bullying and intimate partner violence. These factors are strongly linked to conditions such as depression, schizophrenia, bipolar disorder and anxiety disorders. However, researchers note that such exposures have remained relatively stable over time and account for only a portion of the overall rise.
According to the authors, broader drivers are likely contributing to the increasing prevalence of mental disorders. These include genetic and biological influences, poverty, inequality, and the growing impact of global crises such as armed conflict, pandemics, natural disasters and climate-related stress.
While mental health conditions have long been a leading cause of disability worldwide, the report warns that the situation is worsening. At the same time, health systems have not expanded services at a pace matching demand.
The authors caution that the gap between rising need and limited access to care is becoming more pronounced, leaving millions without adequate treatment or support.
Health
Europe Records Sharp Rise in Sexually Transmitted Infections, ECDC Warns
Health
White House Rejects Report It Blocked Return of Ebola-Infected US Doctor
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