Transforming Newborn
Screening
Harriet Joyce Foundation Awards $2.4 Million Grant to Brigham and Women’s Hospital for Groundbreaking Gene Sequencing Study in Ecuador
The Harriet Joyce Foundation has entered into a $2.4 million grant agreement with Brigham and Women’s Hospital (BWH), a leading teaching hospital of Harvard Medical School, to launch an ambitious genomic newborn screening (gNBS) initiative in Ecuador. This multi-phase study represents the first comprehensive effort to use whole genome sequencing (WGS) to identify rare, actionable genetic conditions in Ecuadorian newborns—many of which are currently undetected under the country’s limited biochemical screening program.
A leader in newborn care, the Brigham is the largest birthing center in Massachusetts, with nearly 7,000 births annually. With this gift from the Harriet Joyce Foundation, Richard Parad, MD, MPH, director of the Neonatal Genomic Program at the Brigham and associate professor of pediatrics at Harvard Medical School, along with genomics innovator Arindam Bhattacharjee, PhD, will lead an initiative to leverage state-of-the-art genomic technologies to screen newborns for a wide array of genetic disorders.
“Gene sequencing also enables the development of personalized treatment plans, improving treatment outcomes,” adds Bhattacharjee. “In the case of many rare diseases caused by genetic mutations, gene sequencing can provide accurate diagnoses, often ending long diagnostic odysseys for patients and their families. Early and precise diagnosis can lead to better management and treatment options.”
“Each year, millions of newborns worldwide can go undiagnosed for treatable genetic disorders that could be detected pre-symptomatically through genomic screening,” says Parad. “By integrating advanced genomic screening methods into routine newborn care, we can address pediatric health risks early and take a proactive approach to treatment.”
“Our ultimate goal is to save and improve the quality of life for countless children and their families,” says Jeffrey Himmel, president of the Harriet Joyce Foundation. “This initiative is a game-changer for the children and families of Ecuador. By significantly enhancing the existing newborn screening program in Ecuador, which currently screens for four disorders, we can leapfrog forward with new technology that can identify more than 2,000 pediatric disorders—more than 500 of which are treatable or manageable.”
Study Design
and Phases
The proposed study will be conducted in two phases:
Phase I
Phase II
Will involve whole genome sequencing of 500 individuals, analyzing approximately 20,000 genes across the human genome. Using a hypothesis-free methodology, this phase will identify carrier frequencies of disease-causing variants within the Ecuadorian population, with the goal of capturing both genetic diversity and potential founder mutations. For example, phenylketonuria (PKU) has an incidence of 1.53 per 100,000 live births in Ecuador—translating to a carrier frequency of about 1 in 100. Researchers expect to find
Will expand the study to 4,500 individuals across 20 regions of Ecuador. This phase will apply a hypothesis-driven approach, using a targeted panel of roughly 250 disorders selected from global initiatives like GUARDIAN and insights from Phase I. This strategy enhances regional specificity, promotes cost-efficiency, and supports scalable integration with international best practices.
Studies such as BabySeq have shown that over 90% of individuals carry variants in disease-related genes. In Ecuador’s Phase II, using a refined gene panel, the expected detection rate is 2–3%, identifying an estimated 150 affected individuals out of 5,000. These findings will not only inform national screening expansion, but also help shape clinical guidelines and public health policy tailored to Ecuador’s unique genetic landscape.
Approvals and Future Impact
While funding is in place and the design is complete, it is still subject to revision and requires formal approval from Ecuador’s Ministry of Health and an Institutional Review Board (IRB) before any research activities can begin.
By combining hypothesis-free discovery with hypothesis-driven validation, the Harriet Joyce Foundation’s investment positions Ecuador to become a regional leader in genomic newborn screening—creating a model that is equitable, sustainable, and scientifically rigorous. The ultimate objective is to drive policy change for the development, modification, or expansion of Ecuador’s national newborn screening panel and to support future clinical research and services aligned withthe country’s public health priorities.