The Padrino Children’s Foundation, a non-profit provider of pediatric healthcare located in Todos Santos, BCS, Mexico, announced its co-authorship of ground-breaking research exploring the impact of clinical genetic sequencing (cGS) in treating individuals with rare genetic disease. As a participant in the iHope™ Genetic Health (iHope) program, Padrino provided cGS to children with undiagnosed disease who otherwise lacked access to molecular testing.

About 70% of rare diseases present symptoms in childhood and result in high healthcare utilization and poor outcomes. Without a correct diagnosis and treatment, 30% of these children will not reach their fifth birthday. Despite evidence that children diagnosed by cGS are up to two-fold more likely to get precision management, there is still limited availability of cGS outside of the US and Europe.

The article published in the American Journal of Human Genetics investigates the usefulness of cGS in populations from high-income countries vs. lower-income countries. A positive diagnosis was achieved using cGS in 41% of 1,004 individuals assessed. Subjects from lower income sites were 1.7 times more likely to receive a diagnosis compared to those from high-income sites. Moreover, at least 57% of subjects from lower income sites received a new diagnosis and up to 78% experienced changes in care because of cGS results.

“We know the value of genetic testing as a first-line test for children with a suspected rare disease, but for lower income populations like ours, the impact on care is especially beneficial,” said Dr. Alejandra Pena Salguero, Padrino’s Executive Director. “Over the 7 years that we have participated in the iHope program, our positive diagnostic rate has been above 60% for the 155 children we have tested, giving families definitive answers and physicians clinical direction. For many children, the diagnosis has been life-changing.”

Erin Thorpe Venti, MS, CCG, lead author and Director of Clinical Programs at Genetic Alliance, the coordinating entity of the iHope program, underscored the importance of the study saying, “In high income countries patients often remain undiagnosed for an average seven years, but in lower income geographies many families will never know the cause of their child’s suffering. This study is proof that genome sequencing is a viable tool among resource-limited populations. Over the next five years, in partnership with providers like Padrino, iHope plans to benefit thousands of patients per year and enable in-country capacity building and education, setting a foundation for equitable expansion of genetic testing.”

Padrino board of directors president, Jamie Kelly, said, “Our participation in the iHope program has demonstrated two important truths. First, genetic testing can be an effective tool in primary care, it need not be limited to the halls of academic medical centers. Second, we have witnessed firsthand that positive diagnosis of rare disease can improve quality of life, and even save lives. The Padrino vision is that all children in our region are able to achieve their full potential for health and well-being. There is no more powerful way to realize this vision than by fostering diagnostic equity for our community.”

About Padrino Children’s Foundation.

Padrino is a US 501(c)(3) non-profit organization and Mexican Asociación Civil in Baja California Sur that provides medical care to low-income children in Todos Santos and the surrounding region. For more information, visit www.padrinocf.org

Alejandra Pena Salguero, MD Padrino Children’s Foundation MX: 612-145-0506 US: 1-619-813-4236 apena@padrinocf.org