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Researchers share tool to improve newborn genetic screening

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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.

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GSK ovarian and womb cancer drug shows promise in early trial

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GSK said its ovarian cancer drug shrank or cleared tumours in more than 60 per cent of patients in an early trial as CCO Luke Miels pushes faster development.

The company said that in an early-stage trial, Mocertatug Rezetecan, known as Mo-Rez, shrank or eliminated tumours in 62 per cent of patients with ovarian cancer after chemotherapy had failed, and in 67 per cent of those with endometrial cancer.

Hesham Abdullah, GSK’s global head of cancer research and development, said: “Treatment of gynaecological cancers remains a major challenge, with a pressing need for new therapies that offer improved response rates.

“With Mo-Rez we now have compelling evidence of a promising clinical profile.”

GSK acquired the Mo-Rez treatment, an antibody-drug conjugate, from China’s Hansoh Pharma in late 2023 and has trialled it in 224 patients around the world, including the UK, over the past year.

Only a few patients needed to stop treatment because of side effects, the most common being nausea.

It is given every three weeks by intravenous infusion, meaning directly into a vein.

Combined with data from a separate intermediate trial in China, the results have given the British drugmaker the confidence to go straight to late-stage trials, with five clinical studies planned globally in the next few months, including on patients in the UK.

Speaking to journalists before the conference, Abdullah described Mo-Rez as a “key asset” in the company’s growing cancer portfolio.

It is expected to be a blockbuster drug, with peak annual sales of more than £2bn, which GSK hopes will help it achieve its 2031 sales target of £40bn.

A few years ago GSK did not have any cancer drugs on the market, but it now has four approved medicines and 13 in clinical development.

Last year, oncology generated nearly £2bn in sales, up 43 per cent from 2024, with sales of its endometrial cancer drug Jemperli rising 89 per cent.

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Self-employment linked to better cardiovascular health outcomes in Hispanic women

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Self-employment is linked to lower rates of high blood pressure, obesity, diabetes, poor health and binge drinking in Hispanic women, research suggests.

The findings, published in the peer-reviewed journal Ethnicity & Disease, suggest work structure may be related to cardiovascular disease risk among this group.

Dr Kimberly Narain is assistant professor of medicine in the division of general internal medicine and health services research at the David Geffen School of Medicine at UCLA, senior author of the study, and director of health services and health optimisation research for the Iris Cantor-UCLA Women’s Health Center.

She said: “Hispanic women experience a disproportionate burden of heart disease compared to non-Hispanic women. This is the first study to link the structure of work with risks for heart disease among this group of women.”

The researchers examined 2003 to 2022 data from the Behavioral Risk Factor Surveillance System to assess the association between self-employment, cardiovascular disease risk factors and health outcomes for Hispanic women.

The data included 165,600 Hispanic working women. Of those, about 21,000, or 13 per cent, were self-employed rather than working for wages or a salary.

Overall, the researchers found that self-employed women were less likely to report cardiovascular-disease-associated health problems.

They were also about 11 per cent more likely to report exercising compared with their non-self-employed counterparts.

Specifically, they found that self-employed Hispanic women had a 1.7 percentage point lower chance of reporting diabetes, roughly a 23 per cent decline.

They also had a 3.3 percentage point lower chance of reporting hypertension, roughly a 17 per cent decline.

The study also found a 5.9 percentage point lower chance of reporting obesity, roughly a 15 per cent decline.

It found a 2.0 percentage point lower chance of reporting binge drinking, roughly a 2 per cent decline.

It also found a 2.5 percentage point lower chance of reporting poor or fair overall health, roughly a 13 per cent decline.

The relationship between heart disease risks and the structure of work among Hispanic women was not driven by access to healthcare or differences in income, Narain said.

In fact, the decrease in high blood pressure linked to self-employment was nearly as large as the decrease in high blood pressure linked to being in the highest income group.

The study has some limitations.

The researchers relied on self-reported outcomes, which might be less reliable among ethnic and racial minorities and those from a lower socioeconomic background.

In addition, the researchers’ definition of poor mental health does not entirely match the accepted definition in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders.

They also did not have data allowing them to examine the specific types of occupations held by the women.

The study design also cannot prove any causal relationship between self-employment and cardiovascular disease risk, which is a subject the researchers will explore.

“The next step in the research is to conduct studies that are able to better assess if the structure of work is a cause of higher heart disease risks among Hispanic women.”

Narain said this.

Study co-authors are Lisette Collins, who led the research, and Dr Frederick Ferguson of UCLA.

Grants from the Iris Cantor-UCLA Women’s Health Center-Leichtman-Levine-TEM program and the UCLA National Clinician Scholars Program supported the research.

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Working from home linked to higher fertility, research finds

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Working from home is linked to 0.32 more children per woman when both partners do it at least once a week, research across 38 countries suggests.

The study found that among working adults aged 20 to 45, estimated lifetime fertility, meaning children already born or fathered plus plans for future children, rises when one or both partners work remotely.

In the US, the increase was even higher at 0.45 children per woman.

On average, women whose partners did not work from home had 2.26 children.

When the woman worked from home at least one day a week, this rose to 2.48. When both partners did so, it increased to 2.58.

If the man worked from home at least one day a week, the increase was more limited at 2.36 children.

The research, by Steven J. Davis and colleagues and published as a working paper by the National Bureau of Economic Research, points to three possible explanations.

Remote working may make it easier to balance childcare with paid work, leading some couples to have more children.

Families with children may also be more likely to look for remote roles. Or the growing availability of those roles may lift fertility by opening up more parent-friendly jobs.

“All three stories align with the idea that WFH jobs make it easier for parents to combine child rearing and employment,” the report suggests.

The pattern held both after the pandemic, between 2023 and 2025, and before it, between 2017 and 2019.

The implications for national fertility rates vary mainly because working-from-home rates differ widely between countries.

Among workers aged 20 to 45, the share working from home at least one day a week ranges from 21 per cent in Japan to 60 per cent in Vietnam. The UK ranks third globally and leads Europe at 54 per cent.

The report estimates that, if “interpreted causally”, remote working accounts for 8.1 per cent of US fertility, equal to about 291,000 births a year as of 2024.

The researchers note that while this may sound modest, it is larger than the effect of government spending on early childhood care and education in the US.

“Bringing WFH rates to the levels that currently prevail in the United States, United Kingdom, and Canada has the potential to materially boost fertility in many other countries,” the report suggests.

However, the research cautions against broad policy approaches, saying the desire for remote work varies widely between individuals, and that it is not practical in every job or organisation.

“Thus, policy interventions that push for a one-size-fits-all approach to working arrangements are likely to yield unhappier workers and lower productivity,” it warns.

A UK Parliament report has also found that remote and hybrid work can boost employment, with parents, carers and people with disabilities likely to benefit most from more flexible working options.

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