3 days ago
The next frontier for precision medicine: Pediatricians
Many families now have a new reality when they visit their pediatrician's office. Instead of leaving with more questions, they have answers and a real plan.
Genomic testing, once reserved for rare or complex cases and ordered by specialists, is rapidly becoming a standard tool in pediatric care. The latest guidance from the American Academy of Pediatrics (AAP), released this year, recommends using exome and genome sequencing as a first-tier test for more children, particularly those with developmental delays and intellectual disabilities. More than one in three children with developmental delays, intellectual disabilities, or autism have an underlying genetic condition that can be found using genetic testing.
Given known genetic links to autism, pediatricians can now genomic insights right from the start, moving forward bringing answers and actionable next steps in a child's care journey. This shift is transforming how we diagnose, treat, and support kids with unexplained medical challenges.
Invest in science
Spun out of the National Institutes of Health (NIH), GeneDx was founded 25 years ago on the belief that genomic science could fundamentally change how we diagnose and treat disease. At the time, this field felt like the frontier, a promising but distant future, more exploration than clinical applications.
Today, that vision is a reality. GeneDx has discovered more than 500 links between specific genes and diseases. What once felt futuristic is now central to modern pediatric care. Genomic testing has become faster, more affordable, and more accessible. The updated AAP guidance means genomic testing should be integrated into every family's pediatric office. It should be used to diagnose rare diseases and understand the genetic cause of common conditions like autism and epilepsy with greater speed and precision. It's not just about understanding the root cause, it's about accelerating the path to accurate treatment that can change or save children's lives.
This transformation didn't happen overnight. It was the result of decades of scientific investment—our collective bet on the future of healthcare—to one day ensure children live longer and healthier lives. That investment paid off. Genomic testing not only improves outcomes for patients and families, but it also reduces overall healthcare costs through fewer unnecessary tests and procedures, earlier diagnoses, and more targeted interventions and treatments.
Continued investments in science and medicine are essential. Advancing access to genomic testing isn't just about what's possible today, it's about building a healthcare system that's smarter, more sustainable, and truly patient-centered.
Why genomic testing matters
What was once only available to few, is now broadly available. Genomic testing offers immediate and profound benefits for families. For children facing developmental delays or other unexplained health issues, a single test can sometimes reveal the underlying cause in weeks or even days, in critical situations. This means families no longer must endure months or sometimes years of uncertainty—with multiple rounds of inconclusive tests, uninformative specialist visits, or unnecessary medical bills and suffering. Instead, clear answers can arrive quickly, allowing everyone to move forward with personalized treatment plans in confidence.
With a genetic diagnosis in hand, doctors can provide truly targeted care, tailoring treatments, therapies, and support to fit the unique needs for a diagnosis and in some cases, even stop disease progression. A confirmed diagnosis also opens doors to early intervention, specialized care teams, clinical trials, and support networks that might otherwise remain out of reach. Exome and genome testing are transforming the path to answers and support for children and their families, and now it's more accessible than ever before.
Looking ahead
We see the AAP's guidance as a major milestone, bringing genomics into everyday pediatric care. And for the first time, genomics is equipping pediatricians with critical insights to support early diagnosis and intervention. But this is just the beginning.
We're still in the early chapters of what genomic science and care can unlock. To fully realize its potential, we must continue investing in innovation and driving progress that elevates the standard of care across every clinical setting. Where a child accesses care should never determine their outcome.
Today, we see genomic insights shaping the future in pediatricians' offices. Tomorrow, we envision a world where every baby's genome is sequenced at birth, giving families the power to stop disease before symptoms even start.
My career has been dedicated to expanding access to genomic testing, and I commend the AAP for helping pave the way toward a new standard of care, one where genomics plays a central role in improving pediatric health outcomes nationwide. The path to answers—and to hope—has never been more accessible. Bringing genomics into the hands of every pediatrician marks a critical step toward shortening the diagnostic journey for families, enabling earlier intervention, and reducing costs for both patients and the healthcare system. It's a meaningful advancement in pediatric care, and one that brings us closer to a future where children can be diagnosed before symptoms even begin.
