For years, genetic testing has been treated as something rare and exceptional—a highly specialized tool ordered only by geneticists and often reserved for the end of a long diagnostic journey. Not surprisingly, medicine has changed. Science and technology have advanced and patients’ expectations have evolved. And yet, the way genomic testing is used in practice has struggled to keep up.
Exome and genome sequencing should no longer sit on a pedestal in healthcare. It should be used far more broadly as part of everyday clinical care. The insights encoded in our DNA are foundational to understanding human health, yet too often genomic testing is still viewed as a last resort rather than as a starting point.
To deliver better care, the healthcare system must rethink how genomic testing fits into modern medicine.
PATIENTS ARE MOVING TOWARD A MOLECULAR VIEW OF HEALTH
Across healthcare, people are increasingly seeking deeper insights into their biology. A new generation of companies is gaining traction by offering individuals a more comprehensive, molecular view of their health.
Companies like Function Health and Prenuvo are resonating with consumers because they provide something traditional healthcare has often lacked: proactive insight. People want to understand their health before problems escalate. They want more data about how their bodies work and what risks they may face in the future.
This shift reflects a broader change in how people think about healthcare. Patients no longer want a system that simply reacts to disease; they want one that helps them anticipate it.
Genomics plays a critical role in that future.
THE CLINICAL POWER OF GENOMIC INSIGHT
DNA contains critical information about why disease happens and how it can be treated. For many children with neurological conditions, developmental delays, or unexplained medical challenges, genomic testing can uncover the underlying cause of illness.
When clinicians identify a genetic diagnosis, it can fundamentally change the care pathway. Treatments can become more targeted. Unnecessary tests can be avoided. Families can receive clearer answers and guidance about what lies ahead. It can also drive efficiency and cost savings across our healthcare system.
For many patients, genomic testing ends what is often called the “diagnostic odyssey”—years spent searching for answers.
But genomic insight is valuable only when it is used.
WHY GENOMIC TESTING IS STILL UNDERUSED
Despite its growing impact, genomic testing is still used far less often than it could be. One of the main reasons is cultural rather than scientific.
Historically, genetic testing has been associated with specialists. As a result, many frontline clinicians still view it as something outside their scope. The perception persists that genomic testing requires a genetics expert or that it should only be ordered after other diagnostic options have been exhausted.
In reality, many clinicians already have the ability to order genomic tests today. Pediatricians, neurologists, and physicians in neonatal intensive care units regularly care for patients whose symptoms may have a genetic cause, and in many cases clinical guidelines already recommend exome or genome sequencing as a first-line test. When used early, genomic testing delivers answers much sooner in the care journey and helps guide more targeted care.
The challenge is not capability. It is awareness and mindset.
TECHNOLOGY HAS CHANGED WHAT’S POSSIBLE
The rapid evolution of genomic science has transformed what clinicians can do with genetic information.
Sequencing technology is faster and more accessible than it was even a decade ago. Advances in data science and large genomic datasets have dramatically improved the ability to interpret genetic variation. AI now helps prioritize disease-causing genes with greater speed and precision.
These advances mean that genomic testing can deliver meaningful insights on timelines that fit within real-world clinical care.
In other words, the technological barriers that once limited genomic testing are largely gone.
A MORE PROACTIVE FUTURE FOR HEALTHCARE
Healthcare is gradually shifting from a reactive model toward a more proactive one. Instead of waiting for disease to progress, clinicians and patients alike are increasingly seeking ways to identify risks earlier and tailor treatments more precisely.
Genomics is central to that shift.
When clinicians understand the genetic drivers of disease earlier, they can intervene sooner and make better-informed care decisions. Health systems can reduce unnecessary procedures and hospitalizations. And patients gain clarity about their health far earlier in their lives.
But this future will only become reality if genomic testing becomes part of routine clinical practice rather than a last resort.
BRING GENOMICS INTO EVERYDAY MEDICINE
Taking genomic testing off the pedestal does not mean diminishing its importance. It means recognizing that genomic information should be integrated into everyday healthcare rather than reserved for rare circumstances or certain specialists.
Patients are already embracing a more molecular view of their health. As consumer demand for deeper biological insight grows, healthcare systems have an opportunity to evolve alongside it.
The science is ready. The technology is ready. The question now is whether healthcare is ready to use genomic insights more broadly.
When clinicians across the healthcare system feel empowered to use genomic testing earlier and more often, the result will be faster diagnoses, more precise care, and a healthcare system that is better aligned with the needs of modern patients.
Linda Genen, MD, MPH is chief medical officer at GeneDx.
