GeneDx, a 24-year-old company, is aiming to revolutionize the way genetic testing is done by targeting a huge market: every newborn baby. Their goal is to make genetic testing a standard practice at birth in order to identify potential diseases or conditions early, allowing doctors to start treatments before symptoms even appear.
GeneDx specializes in whole genome sequencing, which analyzes about 20,000 genes that make up the genome. This is different from more common multi-gene panels that typically examine only a few hundred genes to identify specific risks, like for cancer. Whole genome sequencing looks at the broader picture, offering insights into many possible conditions.
The company’s CEO, Katherine Stueland, is enthusiastic about the potential of newborn genetic testing, but she acknowledges that the idea is still under study. One significant challenge is ensuring that insurance companies will cover the approximately $2,000 cost of these tests on a routine basis. This would require substantial changes in healthcare policies to make the tests widely accessible.
In a recent interview with The Associated Press, Stueland shared insights into the mission of GeneDx and the potential benefits of early genetic testing. She highlighted a common misconception about rare diseases—that they are actually quite prevalent. One in 10 Americans has a rare disease, and half of these individuals are children. These diseases often remain undiagnosed for years, causing delays in critical treatments. For instance, epilepsy is linked to 768 different genes, meaning that identifying the right cause requires a comprehensive look at the entire genome. Stueland stressed the importance of using this whole genome approach to pinpoint genetic causes of seizures early, potentially preventing serious outcomes.
GeneDx’s vision extends to testing for a wide range of conditions, including hearing loss, cerebral palsy, and cystic fibrosis. The company aims to conduct genetic sequencing on every newborn to see if they have any genetic conditions that could be diagnosed at birth. For some conditions, early intervention could even prevent the symptoms from developing at all. Currently, it can take an average of six years to diagnose children with rare genetic conditions, but with whole genome sequencing, GeneDx can provide an accurate diagnosis in just weeks, or even days.
GeneDx has already conducted a study to gauge the effectiveness and reception of its approach. More than 70% of parents have opted to enroll their children in the study. The company is not testing for every possible condition but is focusing on 450 clinically actionable conditions. These are conditions where a diagnosis can lead to actionable steps that parents or doctors can take, as opposed to genetic risks where no immediate action is possible. This approach has contributed to the high enrollment rate, as parents are more willing to participate when they know the results could lead to tangible interventions.
Stueland explains that the information GeneDx provides is not about general risks, but about giving parents clear, actionable insights. For example, if a baby is diagnosed with a form of epilepsy, the company can intervene immediately to prevent seizures from occurring, rather than waiting until symptoms appear. This ability to act early could change the way genetic conditions are managed, potentially saving lives and improving health outcomes.
In conclusion, GeneDx’s ambition is to make genetic testing a routine part of newborn care. If successful, their approach could significantly change the way doctors identify and treat genetic conditions, reducing diagnostic delays and improving the quality of life for countless children. However, widespread adoption of this method will depend on making the tests more affordable and accepted by insurers.
