Insight
Researchers share tool to improve newborn genetic screening

More than a decade ago, researchers launched the BabySeq Project, a pilot programme to return newborn genomic sequencing results to parents and measure the effects on newborn care.
Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing (NBSeq), but a new study by researchers from Mass General Brigham highlights the substantial variability in gene selection among those programmes.
In a paper published in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics, they offer a data-driven approach to prioritising genes for public health consideration.
“It’s critical that we be thoughtful about which genes and conditions are included in genomic newborn screening programmes,” said co-senior author Nina Gold, director of Prenatal Medical Genetics and Metabolism at Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham healthcare system.
“By leveraging machine learning, we can provide a tool that helps policymakers and clinicians make more informed choices, ultimately improving the impact of genomic screening programmes.”
The authors introduce a machine learning model that brings structure and consistency to the selection of genes for NBSeq programmes. This is the first publication from the International Consortium of Newborn Sequencing (ICoNS), founded in 2021 by senior author Robert Green, director of the Genomes2People Research Program at Mass General Brigham, and David Bick of Genomics England in the United Kingdom.
Researchers analysed 4,390 genes included across 27 NBSeq programmes, identifying key factors influencing gene inclusion. While the number of genes analysed by each program ranged from 134 to 4,299, only 74 genes (1.7 per cent) were consistently included in over 80 per cent of programmes.
The strongest predictors of gene inclusion were whether the condition is on the U.S. Recommended Uniform Screening Panel, has robust natural history data, and if there is strong evidence of treatment efficacy.
Using these insights, the team developed a machine learning model incorporating 13 predictors, achieving high accuracy in predicting gene selection across programs. The model provides a ranked list of genes that can adapt to new evidence and regional needs, enabling more consistent and informed decision-making in NBSeq initiatives worldwide.
“This research represents a significant step toward harmonising NBSeq programs and ensuring that gene selection reflects the latest scientific evidence and public health priorities,” said Green.
News
Women shouldering hidden burden of navigating healthcare system – study

Women face a hidden burden navigating healthcare, with many repeatedly retelling their medical history, a national study suggests.
The findings indicate that Canadian women are taking on cognitive, emotional and administrative work alongside managing their health, including coordinating providers and advocating for care.
More than half of women surveyed, 53 per cent, reported a past or current chronic condition, while 64 per cent said there were health topics they struggled to raise with their doctor.
Sarah Hoffman, president and CEO of Pacific Blue Cross, said: “These findings challenge us to think differently about women’s healthcare and highlight the hidden work required to navigate the system.
“For many women, managing their health has also come to mean managing the healthcare system itself.
“They are acting as project managers of their own care, shouldering the invisible labour of coordinating between providers, retelling their medical history and advocating to be heard.
“The gap between men and women is meaningful and raises important questions about why younger women report lower levels of confidence and support.
“It also challenges us to consider whether we are actually making progress in women’s care, and whether the next generation is being equipped with the confidence and voice to advocate for their health.”
Overall, 71 per cent of Canadians described their doctors as supportive and 88 per cent expected their appointments to go well.
Among women living with chronic conditions, 71 per cent reported having to repeat their complete health history multiple times a year.
Younger women were particularly likely to report difficulties discussing their health. The study found 81 per cent of Gen Z women aged 18 to 30 and 73 per cent of Millennial women aged 31 to 45 had health topics they struggled to raise with their doctor.
Among Gen Z women with chronic illness, 92 per cent reported having to repeat their complete health history.
The study also found differences between young women and men. While 95 per cent of Gen Z men expected a doctor’s appointment to go well, the figure was 82 per cent among Gen Z women.
Similarly, 82 per cent of Gen Z men said they felt supported by their family doctor, compared with 66 per cent of Gen Z women.
Reasons for holding back health concerns varied between generations.
Among Gen Z women, 30 per cent cited fear of dismissal and 29 per cent fear of judgement.
Embarrassment was the most common barrier among Millennial, Gen X and Boomer women, reported by 29 per cent, 27 per cent and 35 per cent respectively.
Women who felt they needed to prove themselves to be taken seriously said they adapted how they approached appointments.
Strategies included researching medical information, repeatedly describing or justifying symptoms, bringing written notes or documentation, tracking symptom timelines, making repeat visits and emphasising how symptoms affected their daily lives.
The study also found an association between feeling supported by a doctor and expecting appointments to go well.
Canadians who described their physician as supportive were nearly four times more likely to expect appointments to go well than those who felt unsupported, at 98 per cent compared with 25 per cent.
Overall, 66 per cent of Canadians said they described their symptoms accurately. This fell to 48 per cent among those who said they felt unsupported by their doctor.
The 2026 Blue Cross Women’s Health Study surveyed 2,045 adult Canadians online in March 2026 through independent research company Research + Knowledge = Insights.
The survey had a reported margin of error of plus or minus 2 per cent, 19 times out of 20.
Insight
Court recognises radiation as factor in flight attendant’s breast cancer
Insight
Study to tackle years-long delays in endometriosis diagnosis

A study is examining where delays occur in diagnosing endometriosis – a condition that can take seven to twelve years to diagnose.
Endometriosis affects an estimated 1.5 million women and people in the UK, but there is currently no consistent way of measuring where and why diagnostic delays happen.
The research aims to develop the first standardised framework for understanding the diagnostic journey and identifying points where interventions could improve care.
The international project involves researchers from the University of Sheffield, University of Liverpool, University of Oxford, Aarhus University in Denmark and the University of Edinburgh, alongside Endometriosis UK.
Dr Rebecca Mawson, NIHR clinical lecturer in primary care at the University of Sheffield, is part of the research team.
She said: “Our project asks: where exactly are people getting lost or let down on their journey to diagnosis, and how can we map those points in a systematic way to identify where interventions could make a real difference.”
The project is led by Dr Babu Karavadra, NIHR academic clinical fellow in general practice at the University of Liverpool, who has been awarded a World Endometriosis Society Early Career Investigator Award as lead principal investigator at the University of Liverpool.
Researchers will review existing evidence, gather experiences from people living with endometriosis and bring together an international panel to map the diagnostic pathway and agree common definitions for key points along the journey.
The work will focus particularly on people whose experiences are often missing from research, including Black women, people living in rural or deprived areas, LGBTQ+ communities and disabled people.
Primary care will also be central to the research because it is often where people first seek help with symptoms.
Mawson said: “Primary care needs to be at the heart of this work. Primary care is often where people first seek help with their symptoms, so it has a crucial role in understanding diagnostic delay.
“If we only look at what happens once someone reaches specialist gynaecology, we risk missing some of the barriers that shape the journey long before that point.”
Unlike cancer research, where internationally recognised standards exist for studying diagnostic delays, endometriosis research has been more fragmented, with studies measuring different parts of the diagnostic journey in different ways.
The researchers hope to create an ‘Endometriosis Diagnostic Pathway Framework’ to help identify where people are falling through the gaps and where healthcare could be improved.
They will also develop a ‘Snakes and Ladders’ style visual representation showing how systemic barriers, chance and individual experiences can influence whether someone reaches a diagnosis.
The project forms part of the PEARL network, Primary care Endometriosis and Adenomyosis Research and Learning, an international collaboration of primary care and community researchers and clinicians.
Mawson said: “Endometriosis diagnostic delay isn’t inevitable. If we can understand where and why people are experiencing barriers, we have a much better chance of designing interventions that actually make a difference.
“The scale of the problem demands that we look at the whole journey, listen to the people experiencing it and build an evidence base that can lead to real change.”
The framework could provide the foundations for future research, clinical guideline development, healthcare professional training and NHS service improvements, with potential applications to related conditions such as adenomyosis and chronic pelvic pain.
Hormonal health2 weeks agoMajor UK study could be a ‘game-changer’ for heavy periods and endometriosis
Entrepreneur6 days agoKOVE Medical raises €1.7 million to improve safety of foetal surgery
Fertility2 weeks agoOne week left to apply: W Accelerate with Merck KGaA and M Ventures
Pregnancy1 week agoUK study aims to transform maternity care for high-risk pregnancies
Menopause2 weeks agoQuarter of women miss work due to menstual symptoms, survey finds
Mental health2 weeks agoPMDD after SSRIs or hormones: Why the brain may be the missing treatment target
Diagnosis2 weeks agoArk Surgical secures further institutional backing to accelerate US expansion
Menopause4 days agoMenopause hormone treatment may ease brain fog, study suggests













