Genomics and the Future of Maternal and Newborn Health: Closing Gaps, Saving Lives
Every day, around 800 women die from complications related to pregnancy or childbirth1, and millions of newborns don’t survive their first month2. While maternal mortality has declined between 2000 and 20201, too many of these deaths could still be prevented. The theme for World Health Day 2025 - Healthy Beginnings, Hopeful Futures - calls for a renewed focus on care during pregnancy, birth, and early childhood so that every mother and baby have the best possible start.
Genomics can offer ways to improve these outcomes, with methods to help healthcare providers spot risks earlier, guide clinical decisions, and sometimes intervene before symptoms even appear. In pregnancy and early life, this can mean timely diagnosis of inherited conditions, safer prenatal care, or access to newborn treatments that can change a child’s future.
Yet, as with many innovations, these benefits are not equally shared. Most genetic data comes from people of European ancestry. Access to testing is uneven. And new technologies often reach the wealthiest first. If genomics is to support healthy beginnings for all, programs must be designed and implemented with equity in mind.
From early screening and diagnosis to new approaches to care, genomics can support more informed, timely, and personalized decisions for families. But there are still barriers to overcome, especially when it comes to access, representation, and trust. This article explores where genomics is already making a difference in maternal and newborn health, where some gaps lie, and what steps are needed to make this promising field work for everyone.
Carrier screening allows prospective parents to understand their risk of passing inherited genetic conditions to their children. Conditions such as cystic fibrosis, spinal muscular atrophy (SMA), and sickle cell disease can be identified early, empowering parents and clinicians to prepare and make informed reproductive choices. Expanding carrier screening to include more conditions and offer it more widely could help more families make informed decisions before pregnancy begins.
Non-invasive prenatal testing has revolutionized prenatal care, safely detecting conditions such as Down syndrome and other aneuploidies from as early as 10 weeks of pregnancy. By analyzing fetal DNA circulating in maternal blood, this approach reduces the risks associated with invasive procedures like amniocentesis, enhancing prenatal safety and care. Ongoing research into broader applications of NIPT for additional genetic and chromosomal abnormalities could further enhance early prenatal care.
Around the world, national newborn screening programs are expanding to detect a broader range of genetic and metabolic conditions early in life. While these programs have traditionally relied on biochemical testing, they are increasingly incorporating genomic tools to identify disease carriers and confirm disease findings.
In the United States, each state manages its own program, with most screening for at least 29 conditions, and many aligning with the 35 core conditions recommended by the federal Recommended Uniform Screening Panel (RUSP)3. Italy offers one of the most extensive national programs in Europe, screening for around 40 inherited metabolic disorders as part of its Expanded Newborn Screening initiative4. Japan screens for 20 conditions nationwide, with high participation5 and ongoing efforts to include additional disorders, such as SMA6, through regional pilots. These programs reflect a growing global commitment to early detection and intervention, supported by and increasingly integrated with genomic technologies.
Projects like the Genomics England Generation Study and the University of Liège’s BabyDetect pilot illustrate how early genomic screening can identify conditions that significantly benefit from prompt intervention, potentially saving lives and improving quality of life from the earliest stages.
Scaling screening programs to national healthcare systems worldwide is a significant logistical and ethical undertaking, requiring careful consideration and public engagement. Challenges include ensuring privacy, consent, and equity of access, particularly in resource-constrained settings. However, if realized, national newborn screening programs could help identify rare but serious conditions earlier, reduce diagnostic delays, and connect families with life-saving interventions when they are most effective.
Genomic testing can guide the management of pregnancies identified as high-risk, optimizing outcomes through tailored monitoring and interventions. Genetic insights can inform decisions regarding delivery timing, specialist care, and interventions that may avert severe complications. Enhanced education and training for healthcare providers in interpreting genomic information will be necessary to fully realize these benefits.
Despite these advances, genomic medicine faces a stark equity challenge: most genomic data currently available comes from populations of European ancestry. This imbalance affects the accuracy of predictive diagnostics and limits equitable access to the benefits of genomic healthcare worldwide.
Research highlights significant disparities in genomic data diversity. A 2022 paper published in Nature Medicine showed that 86.3% of genome-wide association studies (GWAS) have been carried out on people of European ancestry9. Furthermore, a 2023 article in the New England Journal of Medicine pointed out that this lack of representation has real consequences in oncology, where polygenic risk scores (PRS) and somatic variant interpretations often perform poorly in non-European populations10. This can result in less accurate cancer risk prediction and suboptimal treatment decisions for patients from underrepresented groups. As the authors emphasize, improving equity in precision medicine will require sustained efforts to diversify genomic databases and ensure that emerging tools work for all populations.
Several large-scale initiatives are working to address these gaps by building genomic datasets that reflect a broader range of global populations. For example, the Saudi Human Genome Program aims to sequence 100,000 genomes from the Saudi population to improve the diagnosis and treatment of genetic diseases11. By generating genomic data from an underrepresented population, this initiative plays a key role in addressing the diversity gaps in global genomic databases, helping to lay the groundwork for more accurate and inclusive screening for future generations.
Similarly, the GenomeAsia 100K Project seeks to sequence the genomes of 100,000 individuals from across Asia, including historically underrepresented groups in South and Southeast Asia. The project’s pilot phase showed significant genetic diversity across 219 population groups. Its findings are expected to support the development of more regionally tailored tools for risk prediction, diagnosis, and treatment12.
Access to genomic testing infrastructure is unevenly distributed, severely limiting availability in low- and middle-income countries (LMICs). In many LMICs, even basic genetic services are not integrated into routine care, and access is often confined to a handful of urban centers or academic institutions. Where testing is available, costs are typically borne by the patient, limiting uptake by those who need it most.
Without national policies to support genomic screening, these technologies risk becoming tools of privilege rather than of public health. Investment must, therefore, be paired with political commitment, local workforce development, and community engagement to ensure that genomics is implemented in a way that is sustainable, inclusive, and aligned with local healthcare priorities.
These challenges are not exclusively genomic but part of a broader healthcare inequality, resulting in missed opportunities to prevent and treat conditions where they might have the most significant impact. Increasing funding, developing affordable testing technologies, and establishing regional genomic hubs in LMICs could significantly help to bridge these gaps.
It’s also important to recognize that genomic inequity is not solely an LMIC problem; even within high-income countries, access to genomic testing is often stratified by socioeconomic status. For example, in countries like England and the USA, comprehensive genomic screening and advanced prenatal testing are more readily accessible to those with private healthcare coverage or premium insurance policies. This internal disparity highlights that economic factors significantly influence access to genomic medicine, highlighting the importance of addressing inequities at both the global and local levels.
Exciting advancements in prenatal genomics suggest that genomic medicine may soon go beyond diagnosis to active intervention before birth, transforming the landscape of maternal and newborn care.
A groundbreaking case reported in the New England Journal of Medicine detailed the first successful in utero treatment of SMA using risdiplam. In this instance, a fetus diagnosed with SMA received risdiplam starting at 32 weeks gestation. The treatment appeared to ameliorate the condition, and the infant was born at 38 weeks without any signs of SMA through 2.5 years of follow-up13. This case exemplifies the potential of prenatal genomic interventions to alter the course of genetic diseases before birth.
Emerging research has explored the use of PRS to predict the risk of Gestational Hypertensive Disorders (GHD), including preeclampsia. A 2022 study published in the Journal of Personalized Medicine demonstrated that a PRS developed through machine learning could serve as an early screening tool for GHD. By analyzing genetic data, the study identified women at higher risk, suggesting that such tools, combined with known risk factors and medical history, could enable stratification into low-risk and high-risk groups for monitoring and preventative programs14.
In the future, genomic medicine could encompass gene therapies for rare congenital disorders and vastly expanded newborn screening programs, transforming healthcare models to become preventive rather than merely reactive. Nonetheless, the feasibility of implementing such advanced genomic interventions globally remains a significant challenge.
Genomics holds promise for Healthy beginnings and hopeful futures, but only if deployed equitably. World Health Day is a reminder that health innovation must serve everyone, everywhere, starting from the very first chapter of life.
As genomic technologies advance, their potential to support healthier beginnings is clear. However, ensuring these tools reach every mother and child, regardless of geography or background, remains one of the defining challenges for global health in the years ahead.