All parents have hopes and dreams for their children. Topping the list is the hope that their children are healthy and live productive lives. As parents know all too well, children don’t come with instruction manuals, so understandably they sometimes question their child-rearing choices or wonder if they’re doing the right thing.
These typical fears and concerns escalate quickly for those parents who notice that something doesn’t seem quite right with their child. When a medical exam fails to offer a diagnosis to explain a child’s symptoms, parents ask for a second opinion. When a third opinion, followed by a fourth and fifth, still uncover no answers, they find themselves at a loss.
After all, that testing—the biopsies, poking, and prodding—symptoms that mimic other diseases can further complicate the situation. When standard medical tests and imaging fail to identify the root cause of the symptoms, these parents realize that not only can they not find a treatment, they can’t even name the disease. Their desperation is palpable. Without a diagnosis, there’s no prognosis. There’s no way to know how to prepare for the future or if their child will have a future. Where can they turn?
For many, the journey takes them to TGen’s Center for Rare Childhood Disorders (the Center) and a team of doctors and scientists who leverage innovative genomic research and technology to diagnose rare childhood disorders.
Sequencing Offers Hope
Nearly two decades since the first human genome sequencing draft was published, advances in technologies to sequence and analyze a genome have helped scientists identify conditions at a much faster rate.
Today, clinicians no longer have to rely on limited tests to provide a diagnosis. Genomic sequencing stands as the most powerful diagnostic tool available to define all the changes in a patient’s genome. It allows the Center’s scientists to look across the complete genetic code of a person’s DNA and provide the most comprehensive view of the disease’s potential genetic origins.
Whole Exome and Genome Sequencing
Often the answer, or at least a better understanding of a child’s condition, may be identified by using a technology called whole genome (WGS) and whole-exome sequencing (WES).
Over the past decade, WES and WGS have emerged as breakthrough technologies that allow rapid sequencing of large amounts of DNA to identify genetic variations. These technologies make it possible, for instance, to sequence all the pieces of an individual's DNA that provide instructions for making proteins, which perform a vast array of functions.
Having the ability to sequence large amounts of DNA quickly increases the likelihood of a diagnosis at a much faster pace, limits painful, lengthy, and costly testing, and — at times — opens the door to new treatments.
For parents whose children struggle with a rare disorder, this technology and the Center offer the promise of hope. Our 40 percent diagnostic rate means that more families receive answers. And while not all diagnoses lead immediately to treatment, attaching a name to their child’s disorder provides many families with a greater sense of power and answers that make a world of difference.
As a parent, you probably have many questions, and the Center has answers for many of them. Through the generosity of donors, the Center provides genomic testing for families at no charge and continues its work to provide solutions and cures to families and their children.
