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
New Review Finds Plant-Based Diets Safe for Children When Properly Supplemented
A major scientific review has concluded that children can safely follow vegetarian or vegan diets, provided they receive the right supplements or consume foods fortified with essential nutrients. The findings, published in Critical Reviews in Food Science and Nutrition, assessed how plant-based eating patterns affect growth, health, and nutrient intake among young people.
Researchers examined data from nearly 49,000 children and teenagers across 18 countries, comparing those who followed vegetarian, vegan, and omnivorous diets. The study’s lead author, Monica Dinu of the University of Florence, said the results show that plant-based diets can support healthy development when they are carefully planned. She stressed that key nutrients must be monitored to avoid deficiencies.
The review found that vegetarian children typically consumed more fibre, iron, folate, vitamin C, and magnesium than their meat-eating peers. However, their intake of energy, protein, fat, vitamin B12, vitamin D, and zinc was lower. Similar patterns were observed among vegan children, whose calcium intake was notably low. According to the researchers, vitamin B12 was consistently inadequate without fortified foods or supplements.
Study co-author Jeannette Beasley of New York University noted that children on vegetarian and vegan diets may require supplementation for nutrients such as vitamin B12, calcium, iodine, and zinc. These gaps were most evident among vegans, who avoid all animal products, including dairy and eggs.
Despite these shortcomings, the review identified several health advantages linked to plant-based diets. Both vegetarian and vegan children showed signs of stronger cardiovascular health compared with omnivores. The study reported lower cholesterol levels, including reduced low-density lipoprotein (LDL) cholesterol, which is associated with a higher risk of heart disease. Vegetarian children were generally slightly shorter and leaner, with lower body mass index and fat mass, though these differences remained within healthy ranges.
The authors cautioned that interpreting the results has limitations. It remains difficult to determine whether the diets themselves caused the observed health outcomes. Families adopting plant-based eating patterns may also differ in lifestyle or socioeconomic factors that influence children’s health.
Given the increasing number of households adopting plant-based diets for ethical, environmental, or health reasons, researchers urged parents to seek guidance from paediatricians or dieticians when planning meals for children. They also called for more official recommendations to help families ensure adequate nutrient intake during key stages of growth.
Dinu said the team hopes the findings will help families better understand the potential benefits and risks associated with plant-based diets, enabling them to make informed decisions that support children’s long-term wellbeing.
Health
Sperm Donor with Cancer-Causing Mutation Fathers Nearly 200 Children Across Europe
A sperm donor carrying a rare cancer-causing genetic mutation has fathered nearly 200 children across Europe, according to an investigation led by the European Broadcasting Union, involving 14 public service broadcasters. The man, who appeared healthy and passed standard screening, donated sperm for approximately 17 years while he was a student.
The mutation, found in the TP53 gene, increases the risk of cells becoming cancerous. Children who inherit the mutation develop Li Fraumeni syndrome, a disorder associated with up to a 90 percent lifetime risk of cancer. Some donor-conceived children have already died, and many more are expected to develop cancer in the future.
Doctors first identified the risk this year after discovering 23 children carrying the mutation among 67 known cases, 10 of whom had already been diagnosed with cancer. Investigators reported that the donor’s sperm was used to conceive at least 197 children in 14 countries, though the actual number may be higher. Children have been born in Denmark, Belgium, Spain, Greece, and Germany, with additional recipients in Ireland, Poland, Albania, Kosovo, and Sweden. A small number of women from the United Kingdom were also treated at clinics in Denmark, according to Peter Thompson, chief executive of the UK’s Human Fertilisation and Embryology Authority.
Denmark’s European Sperm Bank, which supplied the samples, admitted the sperm was overused and expressed “deepest sympathy” to affected families. The bank said the mutation could not have been detected through routine screening and immediately blocked the donor once the problem was discovered.
Experts have described the case as both a regulatory failure and an extraordinary coincidence. Jackson Kirkman-Brown, a professor at the University of Birmingham, noted that detecting new mutations in sperm is difficult and that the core issue lies in insufficient monitoring of how often a single donor’s sperm is used. Clare Turnbull from the UK Institute of Cancer Research said the situation reflects a highly unusual combination: a donor carrying a rare mutation and that same sperm being used to create a large number of children. She added that the mutation likely arose in the donor’s testes and spread among sperm cells, a phenomenon known as selfish spermatogonial selection.
The investigation has also highlighted differences in European regulations on sperm donation. Family and child limits vary widely: in Cyprus, a donor may contribute to only one child, while France, Greece, Italy, and Poland allow up to 10. Denmark limits donations to 12 families, and Sweden and Norway to six families. Some countries maintain anonymous donations, though disclosure may occur in cases of severe health conditions.
Euronews Health has contacted the European Sperm Bank for comment but has not yet received a response. The case has renewed calls from experts for tighter international oversight of sperm donation to prevent similar incidents in the future.
Health
AI Note-Taking Tool Gives European Clinicians More Time With Patients, Study Finds
A new analysis from Swedish firm Tandem Health suggests that automated note-taking technology is reducing paperwork for clinicians across Europe and allowing them to spend more meaningful time with patients.
The company reviewed more than 375,000 medical notes produced with its AI scribe, a tool now used by nearly 1,300 clinicians in 11 European countries, including the UK, France and Spain. The findings indicate that the technology shortened the average time spent writing notes from 6.69 minutes to 4.71 minutes — a 29% drop.
Tandem Health also surveyed 177 clinicians, ranging from GPs and surgeons to psychologists and nurses. Many said the reduction in administrative work allowed them to feel more attentive during consultations, while some reported a noticeable decrease in stress linked to routine documentation.
Health workforce fatigue remains a growing concern in Europe. An international survey published earlier this year found that administrative overload is a major factor behind burnout among primary care doctors. In the UK, 28% of GPs who reported burnout said excessive paperwork was the main cause. In Switzerland, the proportion rose to 65%.
Tandem Health CEO Lukas Saari said the results highlight how digital tools could support overstretched services. “For European healthcare systems facing acute workforce shortages and rising costs, that capacity gain could make a real difference at scale, addressing wait times, clinician burnout and care access,” he said.
The company stressed that much of the existing research on AI scribes comes from the United States, where healthcare structures differ significantly from those in Europe. Tandem Health’s scribe is classified as a medical device under EU rules, and the firm says more regional evidence is necessary as adoption grows.
Dr Artin Entezarjou, head of medical operations at Tandem Health, said the data offers insight for policymakers and health leaders examining new ways to address persistent staffing pressures. He noted that European systems must understand how such tools function in their own clinical environments to shape appropriate guidance and investment decisions.
Supporters of the technology argue that even modest efficiency gains could help reduce appointment backlogs and ease strain on health workers. Many clinicians in the survey said the extra time and reduced cognitive load improved the quality of their patient interactions, which they viewed as a central benefit of the scribe.
The findings arrive as hospitals and primary care networks across Europe continue to test digital tools that could take on repetitive administrative duties. Tandem Health says demand for its scribe has risen sharply over the past year as more clinicians explore ways to streamline paperwork without compromising record accuracy.
The company plans to expand data collection to assess long-term effects on patient flow, clinical workload and staff retention.
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