Sharon F. Terry
President and CEO, Genetic Alliance
Genomic sequencing can change a child’s future, potentially leading to treatment, support and care close to home.
A six-year-old girl couldn’t walk. To cross a room, she scooted on her bottom. Her family watched other children run, climb and play while they moved from appointment to appointment without an answer.
Then, genomic sequencing identified her rare condition. The treatment was simple, and she began to gain strength. Soon, she was climbing ladders on the playground.
An answer changes a life
This is the promise of genomic medicine made real — not a futuristic breakthrough, but the right test reaching the right child. A diagnosis can end years of uncertainty, prevent further ineffective testing and show clinicians the next step, which is sometimes complex, and other times, remarkably straightforward.
Yet, families in under-resourced communities may not have access to a genetic specialist, accredited laboratory or the money to pay for testing. The science exists, but the delivery system doesn’t.
Bringing testing to children
Through Genetic Alliance’s RISE program — rare insights, solutions, empowerment — we work with local clinical teams in low- to middle-income countries and with accredited laboratories to provide clinical genome and exome sequencing at no cost to children with suspected rare genetic conditions. The result is sent to the clinician caring for the child and can guide treatment, monitoring, counselling and connection to support.
This is the promise of genomic medicine made real — not a futuristic breakthrough,
but the right test reaching the right child
We recently crossed the threshold of 4000 children tested. About half received a diagnosis, and 70% saw a change in their care management.1 Though substantial, it’s only the tip of the iceberg. Estimates range in the hundreds of millions of children in need of a diagnosis.
For me, this is personal. Thirty years ago, I searched for answers for my own children. I know the fear of wondering what is wrong, what can I do?
A diagnosis isn’t the end of that journey; it’s the moment a family can finally begin moving forward — and, sometimes, the moment a child begins to climb.
[1] Thorpe E, et al. (2024). The impact of clinical genome sequencing in a global population with suspected rare genetic disease. https://tinyurl.com/4hcenhmw.
