GeneDx has a big market in mind for its genetic testing: every newborn baby.
The 24-year-old-company wants to make the testing common at birth. The goal: Identify potential diseases or conditions so doctors can begin treating them before symptoms appear in some cases.
GeneDx specializes in whole genome sequencing. That involves looking at about 20,000 genes that make up a genome, the instructions to build and sustain a human.
More common multi-gene panels, in contrast, may look at a couple hundred genes to identify a specific issue like cancer risk.
GeneDx CEO Katherine Stueland likes the potential of newborn testing, but she says her Stamford, Connecticut, company is still studying the idea.
A potential challenge: Insurers would have to embrace the idea of covering the roughly $2,000 tests routinely.
Stueland spoke recently with The Associated Press. The conversation has been edited for clarity and length.
Q: Your testing focuses on diagnosing rare diseases. Will patients eventually see it used in everyday care?A: What is really misunderstood about rare diseases is that they’re actually not that rare. One in 10 Americans has a rare disease. Half of them are children.
Epilepsy is actually a constellation of 768 different genes that are associated with (it). It’s really important when you’re seeing a child with a seizure to look at the entirety of the genome to pinpoint whether one of those many genes is causing the disease.
Q: What are some other examples of diseases your testing would detect?A: Hearing loss, cerebral palsy, cystic fibrosis. Ultimately, we want to be sequencing every baby at birth and figuring out whether there is a genetic condition that can be diagnosed right away. For some of these conditions, there may be something clinically actionable that can be done that would prevent a symptom from ever arising.
It (currently) takes, on average, six years to diagnose one of these kids. We can provide an accurate diagnosis within weeks, if not days.
Q: How are you going to get parental buy-in for genetic testing on a newborn?A: In the study that we’ve done … more than 70% of parents have enrolled. We’re not running whole genome sequencing on every single condition. We’ve focused on 450 conditions, all of which are clinically actionable.
We’re not going to be looking at risk-related information where there’s nothing the parent can do. I think that’s part of the reason why we’ve had such a high enrollment rate.
Q: So, you’re not going to tell newborn parents their kid will likely get Alzheimer’s or cancer?A: That’s exactly right. We’re only delivering information to say, you know, we’ve diagnosed your child with a form of epilepsy and we’re able to intervene now before your child has a seizure.
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The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.
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