Population Genomics Projects Around the World Gaining Ground

By Bio-IT World Staff 

July 8, 2025 | At the Bio-IT World Conference & Expo this year, Robert Green gave an update on BabySeq, Massachusetts General Hospital’s opt-in newborn sequencing program launched in 2015. Despite early concerns about psychological distress, medical harm, and ethical standards, a decade of research has shown BabySeq to be an effective way to help parents know early about medical risks in order to intervene sooner than later, Green said. “Of course, they’re not happy if they find their child has a risk variant, but they did not have catastrophic psychological distress,” he said. “They were grateful for the information.”  

Countries all over the world are expanding their population health efforts, enriching our understanding of genomic diversity and its impact on drug discovery and healthcare.  

In a plan reported in The Telegraph last month, the National Health Service of the UK is aiming to sequence every baby born into the health system over the next ten years, assessing their risk of hundreds of diseases. The plan is reportedly part of a larger NHS priorities plan to be published in July.  

The American Academy of Pediatrics recently updated their clinical guidance on global developmental delays (GDD) and intellectual disability (ID) recommending genomic testing as a primary test. “The AAP recommends exome/genome sequencing as a first-tier test for GDD/ID in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process,” the Academy authors wrote in a July 23 publication in Pediatrics (DOI: 10.1542/peds.2025-072219)   

A study in last week’s issue of Cell (DOI: 10.1016/j.cell.2025.04.027) took aim at quantifying the diversity of the Indian genome, a foundational step to accurate genome-wide association studies, the authors wrote. With around 5,000 different ethno-linguistic and religious groups, India is one of the most culturally and genetically diverse countries in the world. The new analysis, led by researchers at the University of California, Berkeley, the All India Institute of Medical Sciences (AIIMS) in New Delhi, India, the University of Southern California (USC) and the University of Michigan, analyzed the complete genomes of 2,762 individuals, representing most of the nation's major linguistic, ethnic, and geographic communities. The work is the most comprehensive snapshot of genetic variation in India, the authors write.  

While the work focused mainly on evolutionary history and demographic shifts, the authors did generate a catalog of missense and putative loss of function variants, discovering over 160,000 variants not registered in previous genomic surveys. “Many of these variants are annotated in ClinVar and are associated with congenital and blood disorders, metabolic diseases and drug response, and complex conditions such as cognitive decline and dementia,” the authors write. “Notably, these variants are not seen outside India and are present at low frequency across India, but fairly common in some communities.”  

“The unique genetic structure of Indians underscores the importance of incorporating ancestry and homozygosity in future medical and functional genomics research,” the authors wrote.