GeneDx, a leading genetic testing company, is pushing for genetic testing to become standard for all newborns. The goal is to identify potential diseases or conditions early, enabling doctors to intervene before symptoms appear in some cases.
The company specializes in whole genome sequencing, which analyzes approximately 20,000 genes—fundamental to building and maintaining the human body. This differs from more traditional tests, such as multi-gene panels, which focus on a few hundred genes to detect specific issues like cancer risks.
Katherine Stueland, CEO of GeneDx, believes in the benefits of newborn genetic testing but notes that the company is still researching the idea. A significant challenge is the cost, as insurers would need to agree to cover the roughly $2,000 test routinely.
In an interview with The Associated Press, Stueland discussed the potential impact of genetic testing for newborns.
A: Rare Diseases Are More Common Than You Think
“Rare diseases aren’t as rare as many believe,” Stueland explained. “One in 10 Americans has a rare disease, and half of them are children.” For example, epilepsy is linked to 768 different genes. Identifying the exact gene responsible can be crucial in treating children who experience seizures.
A: Early Diagnosis Could Save Lives
Conditions like hearing loss, cerebral palsy, and cystic fibrosis could also be detected early. GeneDx aims to screen every newborn to quickly identify any genetic disorders. For some conditions, early diagnosis could prevent symptoms from developing. Currently, it takes an average of six years to diagnose such diseases, but GeneDx can provide an accurate diagnosis in a matter of days or weeks.
A: Focused Testing with Actionable Results
In its ongoing studies, GeneDx has found that more than 70% of parents are willing to enroll their children for genetic testing. The company focuses on 450 conditions that are clinically actionable, meaning doctors can take steps to address them immediately. The tests do not include risk factors where no intervention is possible, which helps keep parents engaged.
A: Early Intervention Can Make a Difference
“We’re not just identifying the condition; we’re also helping parents take action early,” Stueland said. “For example, if we identify a form of epilepsy, we can intervene before a seizure occurs.”
GeneDx’s push for universal newborn genetic testing could revolutionize early diagnosis and treatment, but overcoming insurance and cost barriers remains a significant challenge.
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