Katherine Stueland

Company: GeneDxTitle: President & CEOIndustry: HealthcareNotable in 2024: Stueland introduced new innovations in genomic sequencing, accelerating diagnosis and expanding to new areas, including pediatric and newborn screening.

Katherine Stueland has worked in pharmaceutical positions related to some of the biggest breakthroughs in recent decades, from the first protease inhibitor for HIV/AIDS to novel cancer immunotherapy. Now, the health-care challenge she is tackling from the top of a growing biotech company is how to increase use of genetic information in identifying and treating rare diseases, in particular among children and newborns.

As chief executive officer at GeneDx since June 2021, Stueland oversees one of the largest rare disease databases in the world, tripling the patients that the company has sequenced and completing 750,000 exomes (the protein-coding portion of a genome) and genomes in all.

From developmental delays to intellectual disabilities, congenital defects, and some forms of epilepsy, GeneDx wants to be the "go-to lab" when families with children and newborns face unexplained medical illnesses. Epilepsy, for example, involves the interaction of up to 768 different genes. Genetic explanations for conditions can vary, and GeneDx is betting that looking at exomes and genomes will help provide answers.

"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," Stueland said in an interview with the AP.

In an ideal world of medical innovation, she says, sequencing of babies at birth would give doctors the chance to take action before any symptom arises.

"It takes, on average, six years to diagnose one of these kids. We can provide an accurate diagnosis within weeks, if not days," she told the AP.

To date, the company has screened more than 15,000 newborns, more than any other commercial laboratory, with a goal of screening 100,000 newborns in all across more than 400 genetic conditions in a study with Columbia University Irving Medical Center, as well as in partnership with New York-Presbyterian, the New York State Department of Health, and Illumina.

There are now 32 state Medicaid programs that cover exome or genome sequencing in pediatric outpatient settings, and rapid genome sequencing in the neonatal intensive care unit across 14 states.

The company has published results in medical journals at a rapid clip, 86 publications in peer reviewed journals in 2024, including in Nature Genetics and research on newborn screening published in JAMA, bringing the total to over 1,121 publications to date. And it has added the most submissions to GeneMatcher, more than 21,315, than any other among the over 16,000 laboratories, researchers, and clinicians that use the platform for research on hard to solve genetic issues.

In the past year, GeneDx also signed a deal with health information giant Epic Systems to increase and improve access to genetic testing labs for doctors.

As with any biotech, the business can be high-risk, with a prior business model that just a few years ago was burning through cash and forced the management to do layoffs. But under Stueland, there has been a significant financial turnaround, which recently sent shares soaring after the company provided results and an outlook that surpassed analyst expectations. In 2024, revenue grew to $302.3 million, an increase of 56% year-over-year, with exome and genome test revenue growing to $233.5 million, an increase of 88% year-over-year. The company also forecast profitability for each quarter and for full year 2025, after turning in its first profitable quarter in 2024.

GeneDx estimates the pediatric rare disease testing market at $3 billion, and newborn screening at an even larger $10 billion addressable market value. Ultimately, the company sees opportunity to move into adult testing as well, using a mission that Stueland sees as fundamental to the future of medicine.

"Being able to look at a genome's worth of information ensures that you're not leaving any patients behind," she told Genetic Engineering and Biotechnology News.