GeneDx has set its sights on a vast market for its genetic testing services: newborns.
The company, which has been in operation for 24 years, aims to make genetic testing a standard procedure at birth.
Their primary objective is to identify potential diseases or health conditions early on, allowing healthcare providers to start treatment before symptoms manifest in certain cases.
Specializing in whole genome sequencing, GeneDx examines around 20,000 genes that comprise the human genome, which offers the fundamental instructions for constructing and maintaining the body.
This approach differs from more conventional testing methods, such as multi-gene panels, which focus on a few hundred genes to assess specific risks, such as susceptibility to cancer.
Katherine Stueland, the CEO of GeneDx, recognizes the promise of newborn genetic testing but notes that her company in Stamford, Connecticut is still conducting research into the feasibility of this initiative.
One significant obstacle they face is the necessity of securing insurance coverage for the approximately $2,000 testing cost on a routine basis.
During a recent discussion, Stueland addressed various aspects of their testing services.
When asked about the role of their testing in everyday medical care, she explained that rare diseases are far more common than typically assumed, with one in ten Americans affected, and half of those individuals being children.
Stueland elaborated that conditions like epilepsy involve a complex array of 768 different genes.
Therefore, in cases where a child presents with seizures, it is crucial to evaluate the entire genome to ascertain the specific genetic contributor to the disorder.
In terms of the conditions their testing could potentially reveal, Stueland mentioned hearing loss, cerebral palsy, and cystic fibrosis.
The long-term goal is to sequence the genomes of all newborns at birth and detect any identifiable genetic conditions immediately.
For certain conditions, early diagnosis could facilitate interventions that prevent any adverse symptoms from developing, significantly reducing the average six-year wait for a diagnosis to mere days or weeks.
Stueland was also asked about how to encourage parents to accept genetic testing for their newborns.
She highlighted that in their studies, over 70% of parents had agreed to participate.
It is important to note that their focus is not on a broad spectrum of conditions but specifically on 450 clinically actionable ones that allow for immediate intervention.
This focused approach may contribute to their high enrollment rate, as it avoids presenting parents with potentially distressing risk-related information that is beyond their control.
In response to whether they would inform parents about possible future risks for conditions like Alzheimer’s or cancer, Stueland made it clear that their intent is quite the opposite.
The primary information provided would be direct diagnoses, such as identifying a form of epilepsy that allows immediate intervention to prevent seizures from occurring.
GeneDx is dedicated to pioneering advancements in genetic testing, envisioning a future where every newborn can receive essential health insights right at the beginning of their lives.
