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Most devastating diseases in childhood including cancers, neuromuscular disorders and congenital heart diseases, have a genetic foundation.
One of the most important advances toward our understanding of pediatric disease has been genomic medicine.
“Genomics is a game changer because it gets at the root of disease,” notes Richard Wilson, PhD, executive director of the Institute for Genomic Medicine at Nationwide Children’s Hospital. “It’s a tool to empower physicians, letting them learn things about their patients they couldn’t learn before.”
More than a decade ago in a watershed moment in our scientific history, the Human Genome Project was completed, sequencing an entire human genome. It took 15 years and about $3 billion to accomplish. Today, sequencing that same human blueprint takes just a few hours at a cost of about $1000. And it’s considered a rather commonplace occurrence.
But imagine looking for one typo in a 100-volume book collection. That’s the next step: genomic analysis–to search for that one genetic variation that may cause disease or to discover an effective gene-based therapy.
Analyzing sequenced genome data to make it clinically useful was once daunting. Now best-in-class technologies have dramatically decreased the length of time it takes to complete that analysis.
What does this mean to the child facing cancer, or to the one with an illness that cannot be defined?
“Genomics is changing the face of pediatrics by making it less uncertain in terms of the diagnoses we’re able to give,” explains Elaine Mardis, PhD, co-executive director of the Institute for Genomic Medicine at Nationwide Children’s. “Now we have this opportunity to meld together the lines between research and clinical care and really begin to offer more tests, more information, more interpretation to our clinicians seeing kids in the clinic.”
The Institute for Genomic Medicine was created at Nationwide Children’s in 2016 to integrate genomics into the mainstream of pediatric patient diagnosis and treatment.
Whole exome sequencing (WES) is used for patients with no clear diagnosis but who likely have an underlying genetic disorder. WES is a test that uses next-generation sequencing to simultaneously analyze the protein-coding regions (exons) of all genes in the human genome. It also can identify changes in a patient’s DNA that may be the cause or contribute to his or her medical condition.
For a child facing an undiagnosed illness, achieving a genetic diagnosis can be a powerful answer, even for cases where no treatment is available. For parents who are tested, information regarding risk for future pregnancies experiencing a genetic condition can be considered. For insurance providers, information about a rare illness permits a clearer understanding of the child’s clinical care needs.
In the world of pediatric cancers, genomic protocols enable comprehensive clinical and research-based testing for cancers and hematologic disorders. At Nationwide Children’s, the initial focus for a genomic protocol involves patients with relapsed disease or a rare tumor type. The protocol is designed to perform both clinical and research testing. Research results can be used to inform diagnosis and evaluate a patient’s eligibility for targeted therapies and clinical trials. Patient data also enables research studies to further illuminate the biology of pediatric cancers, broadening understanding of the disease.
“Our vision is to bring genomics into the clinical translation of disease diagnosis and treatment,” Dr. Mardis says. “It’s understanding what’s going on at the genomic level merged with the existing and ever-growing body of information we have from basic science and clinical research and making the most of that for improved outcomes, improved treatment, less suffering and less pain.”
Learn more about the Institute for Genomic Medicine here.