Padrino Children’s Foundation Announces Co-Authorship of Study on Rare Disease Diagnosis via Clinical Genetic Sequencing (cGS)
June 25 2024 - 5:00AM
Business Wire
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
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version on businesswire.com: https://www.businesswire.com/news/home/20240625716713/en/
Alejandra Pena Salguero, MD Padrino Children’s Foundation MX:
612-145-0506 US: 1-619-813-4236 apena@padrinocf.org