Fertility
HiFi Consortium to redefine landscape of fertility research with long-read sequencing
HiFi Solves Sub-fertility Consortium, an innovative collaboration involving five leading centres across the Asia-Pacific region, has announced work aimed at redefining the landscape of fertility research.
The consortium, led by KK Women’s and Children’s Hospital (KKH) in Singapore, is pioneering the use of PacBio HiFi long-read sequencing to enhance the diagnosis and treatment of subfertility and recurrent miscarriages (RPL).
The HiFi Solves Sub-fertility Consortium integrates DNAstack’s federated data platform, the world’s first solution to enable the creation and analysis of global federated networks of data in compliance with industry standards set by the Global Alliance for Genomics & Health.
This platform allows for seamless global collaboration on complex datasets without the need to move the data, ensuring sensitive genomic information remains secure while supporting efficient analysis and compliance with regional data governance.
“The formation of the HiFi Solves Sub-fertility Consortium is a significant step forward in fertility research,” said Christian Henry, President and Chief Executive Officer of PacBio.
“By bringing together leading experts and leveraging the power of HiFi sequencing along with DNAstack’s federated data platform, we are poised to make substantial advancements in the diagnosis and treatment of subfertility and recurrent pregnancy loss.”
Subfertility affects approximately one in six people globally, while RPL impacts 1 to 2 per cent of women, often resulting in considerable psychological and financial strain.
The consortium is harnessing the capabilities of PacBio HiFi sequencing technology to tackle these challenges head-on. Unlike traditional methods—such as karyotyping, chromosomal microarray, and whole-exome sequencing—HiFi sequencing offers a comprehensive, high-resolution approach that identifies complex chromosomal rearrangements and sub-microscopic abnormalities that other technologies may miss.
This holistic view allows for a more precise characterisation of chromosomal changes, particularly beneficial in cases of subfertility and RPL where multiple genetic factors may be involved.
The consortium’s research is poised to significantly reduce the often-frustrating ‘diagnostic odyssey’ that many patients endure, offering a more streamlined and effective pathway to diagnosis and care.
This initiative is expected to greatly enhance the success of assisted reproductive technologies, such as preimplantation genetic testing for structural rearrangements, leading to improved conception rates and healthier pregnancies.
Spanning through the end of 2025, the consortium’s phased approach includes patient recruitment, advanced sequencing, bioinformatics analysis, and rigorous validation of results. Beyond its immediate impact, the consortium aims to influence clinical practices globally, contributing to peer-reviewed publications and presenting breakthroughs at international conferences.
This ambitious project represents a significant leap forward in the application of genomic medicine to reproductive health, with the potential to deliver profound benefits to individuals facing these challenging conditions, underscoring the transformative power of collaborative research and advanced genomic technologies in addressing complex health issues.
Under the leadership of Associate Professor Saumya S. Jamuar, the consortium brings together esteemed experts: Professor Vorasuk Shotelersuk from the Center of Excellence for Medical Genomics, Chulalongkorn University, Thailand; Professor Ming Chen from Changhua Christian Hospital Medical Center, Taiwan; Assistant Professor Jee Soo Lee from Seoul National University College of Medicine (SNUCM) Laboratory Medicine, South Korea; and Associate Professor Sohyun Hwang, CHA Bundang Medical Center, CHA University School of Medicine, South Korea.
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Fertility
Baby2Home app boosts new mothers’ mental health
First-time mothers using the Baby2Home app for a year after birth reported fewer symptoms of stress, depression and anxiety than those receiving usual postpartum care.
The study found women randomised to the app reported better overall health than first-time mothers who received usual care alone.
Baby2Home is a digital tool to help new families with newborn care and staying healthy.
It offers tailored educational content, infant care trackers and mental health self-management tools, plus access to a care manager for on-demand mental health and problem-solving support.
Emily S. Miller is principal investigator and division director of maternal-fetal medicine at Women & Infants Hospital of Rhode Island.
She said: “Evidence-based digital tools like Baby2Home are opening the door to a new era of postpartum care.
“We can now extend high-quality support beyond hospital walls and into families’ everyday lives. The mental health improvements we saw underscore just how transformational that support can be.”
Researchers from Women & Infants Hospital of Rhode Island, Warren Alpert Medical School of Brown University, Northwestern University’s Feinberg School of Medicine and Lurie Children’s Hospital of Chicago ran a multi-site randomised controlled trial between November 2022 and July 2025.
The trial enrolled 642 postpartum patients, all first-time parents. For 12 months after birth, all participants received usual postpartum care; half also used the Baby2Home smartphone app.
Participants reported progress electronically at five time points over the first year. Compared with the control group, those assigned to Baby2Home reported significantly fewer symptoms of stress, depression and anxiety.
They also reported better overall health, higher relationship satisfaction with partners and family members, and greater confidence in their parenting than the control group.
Miller said: “The first year after birth is a critical period for parental mental health. Baby2Home helped new parents feel more confident, more supported and more connected.
“That translated into better health outcomes for them and their families.”
Fertility
Most NHS regions in England limit IVF to single cycle, research finds
Nearly 70 per cent of NHS regions in England fund only one IVF cycle for women under 40, breaking national guidelines, new research has found.
Twenty-nine of the 42 integrated care boards, which control local NHS budgets, now offer only one round of treatment, after four reduced access in the past year.
National Institute for Health and Care Excellence (Nice) guidelines recommend three full cycles for women under 40 who have been unable to conceive for two years.
Only two of England’s 42 integrated care boards have policies consistent with these guidelines, which they are not legally obliged to follow.
The research was conducted by the Progress Educational Trust, a fertility charity.
Sarah Norcross, the director of PET, said the impact was “devastating” for couples struggling with infertility.
She said: “Infertility is already incredibly stressful for people, and it puts them under even more pressure, because there is so much riding on whether that one NHS-funded cycle is going to work.
“And for some people, that will be their only chance, because private fertility treatment is so expensive.”
The data showed regional variations, with the whole of the north-west offering just one cycle.
“It’s a postcode lottery, and we’re seeing a race to the bottom,” said Norcross.
Of the 29 integrated care boards that offer a single cycle, 19 provide only a partial cycle, where not all viable embryos created are transferred.
There was just one recent example of improved services, from NHS South East London, which in July 2024 went from one partial to two full cycles.
The NHS estimates that about one in seven couples may have difficulty achieving a pregnancy. One cycle of IVF can cost from £5,000 at a private clinic.
Fertility rates in England and Wales have fallen since 2010 to 1.41 children per woman in 2024, the lowest on record and below the replacement level of 2.1 at which a population is stable without immigration.
Health minister Karin Smyth said in a written parliamentary answer last month that it was “unacceptable” that access to NHS-funded fertility services varied across the country.
Revised Nice fertility guidelines are due this spring, but Norcross said changing them seemed pointless.
She said: “Fertility treatment has always been a Cinderella service. It’s always been the one they’ve chosen to cut or to ignore.
“Nice has recommended three full NHS-funded cycles, for women under 40, for more than 20 years. This has never been implemented across England, unlike in Scotland.”
Norcross advocated centralised commissioning and replicating Scotland’s approach, which included financial modelling and a phased implementation starting with two cycles to avoid long waits, moving up to three once capacity was achieved.
“It is a tried and tested plan that England could follow,” Norcross added.
A Department of Health and Social Care spokesperson said: “We recognise access to fertility treatment varies across the country and we are working with the NHS to improve consistency.
“Nice provides clear clinical guidelines, and we expect integrated care boards to commission treatment in line with these.
“Updated Nice fertility guidelines are expected this spring and we will continue to support NHS England to make sure the guidance is fully considered in local commissioning decisions.”
An NHS England spokesperson said: “These clinical services are commissioned by integrated care boards for their area based on the needs of the local population and prioritisation of resources available.
“All ICBs have a responsibility to ensure services are provided fairly and are accessible by different population groups.”
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