Sharon F. Terry
CEO, Genetic Alliance
Around the world, an estimated 250 million children suffer from serious medical issues without even knowing the cause. This prolonged and exhausting “diagnostic odyssey” defines childhood.
Clinical genomic sequencing offers a way out of that uncertainty. With a single test, doctors can examine a child’s DNA to identify a rare disease and/or provide more specific and useful management. Access to this still depends largely on where a child is born. In most under-resourced communities, children rarely receive this testing.
The hidden global burden
As infectious diseases decline in many parts of the world, genetic conditions are emerging as a major cause of childhood illness and disability. Most rare diseases begin early in life. Without a diagnosis, children may endure repeated tests, ineffective treatments or no treatment at all. Families carry the emotional and financial strain, often without a clear path forward.
Genome sequencing needs to become part of routine paediatric care wherever children need answers.
Why diagnosis changes everything
A diagnosis does not cure a child, but it can change everything else. It can stop unnecessary testing, guide treatment and give families clarity after years of uncertainty.
Isabella appeared to be growing and developing normally until around age three, when she began to lose the ability to walk. By six, she could only move by scooting along on the ground. Through iHope, she received clinical genomic sequencing. Doctors identified a genetic condition with a simple, accessible treatment. Isabella started the treatment, and the change was remarkable. Today, she is running and climbing on the playground.
Through iHope — a clinical network spanning 25 clinical sites and five laboratories worldwide — more than 3,000 children have now received genome or exome sequencing at no cost to their families, forming the largest pro bono clinical sequencing network in the world.
A practical path forward
The barrier today is not science but delivery. Genome sequencing needs to become part of routine paediatric care wherever children need answers. Rare Disease Day reminds us that this is possible. Closing the diagnosis gap is no longer a distant goal — it is a practical choice if we decide every child’s life is worth understanding.
Visit Ihopegenetichealth.org to learn more.
Sharon Terry, CEO
Genetic Alliance
26400 Woodfield Road #189
Damascus MD 20872-7509
Telephone: 202.966.5557
E-mail: [email protected]
