As healthcare becomes increasingly data-driven, diagnostics are evolving beyond their traditional role of reporting test results. Advances in analytics and artificial intelligence (AI) are creating new opportunities to identify trends, accelerate innovation, and generate insights that can help shape the future of care. Christopher Garcia, M.D., chief digital innovation officer at Mayo Clinic Laboratories, discusses how diagnostics are moving from reporting what happened to making sure patients get what comes next.

Q: Diagnostics have traditionally focused on delivering results. How is that changing?

A: The result is still the point. What has changed is the answer that result gives a patient. Part of that is precision medicine. A generation of therapies is arriving that only works for the right patient, and each starts with a test that matches the therapy to a specific marker, protein, or signal. A diagnostic used to be an answer about what a patient has. Increasingly, it is the gate to what a patient can receive, and patients with few options today will have real options within a few years.

The other part is that results now answer questions no single measurement could. Several markers, interpreted together, can better define a patient's condition, which dose of a drug is right for them, or how likely a particular side effect is. That moves diagnostics beyond describing the biology as it is today and toward the probability of what may happen next, so patients and their clinicians can make decisions based on risk instead of waiting for the outcome.

Q: What makes laboratory medicine uniquely positioned to identify emerging healthcare trends?

A: We are the clinical field closest to the science. When research understands a disease better, the first place that understanding reaches patient care is the laboratory. Diseases once defined by how they looked under a microscope are now defined by their molecular features: leukemias by their genetics, tumors by the targets they carry, Alzheimer's disease by biology measured in the blood. As the frontier of science moves, our field moves with it. Add breadth, since testing touches nearly every specialty and patient population, and the laboratory becomes the place where new science, new disease definitions, and new demand show up first. The questions clinicians and researchers bring us are an early signal of where medicine is heading.

Q: How are AI and advanced analytics helping generate those insights?

A: At two scales. The first is inside a single patient's sample. The methods we use now generate a staggering amount of information from one person: a whole genome, thousands of proteins from a drop of blood, an entire tissue section at the resolution of single cells. No one can read all of that unaided. Computation cuts through it and finds the signal that is clinically actionable, the few features in all that biochemistry that tell us what this patient has, which therapy fits, or what is likely to happen next. It is also how many of the multi-marker answers I described earlier were discovered in the first place.

The second scale is across patients. The science tells us what to look for. Data tells us where to look. A laboratory sees results across an enormous number of patients, diseases, and specialties, and AI finds the patterns at that scale, helping clinicians see which of their patients should be tested or may be eligible for a therapy or a trial, where a disease is appearing, and what is changing.

At both scales the signal has to be validated before it reaches a patient, and it works best as a tool alongside experts. The value is not replacing judgment. It is helping people find the signal faster and act on it sooner, and for many of these patients, sooner is the difference.

Q: How can diagnostics help accelerate innovation across healthcare?

A: By closing the distance between a discovery and a patient. Today there is often a lag of years between a targeted therapy being approved and the test that identifies eligible patients being widely available and routinely used. In that window, people who could benefit are not being tested. That gap is one of the most useful places laboratory medicine can act.

It starts earlier than most people expect. Diagnostics help define a disease, identify the patients a therapy is meant for, and show whether it works. Developing the test alongside the therapy rather than after it means that on the day a treatment is approved, the laboratory medicine is ready. And once a treatment is in use, every result feeds a larger picture that shows what to build next.

Q: You've said that the challenge has shifted from getting data to making it meaningful. What do you mean by that?

A: Ten years ago the hard part was getting access to data. Now there is more than anyone can use, and volume alone does not produce an answer. Meaning comes from connecting data to two things: the biology of the disease, and the question a clinician or scientist is actually asking. One result attached to a well-characterized patient, a confirmed diagnosis, and an outcome is worth more than a million results with none of that.

That is why the pairing matters. Data-enabled technology finds patterns. Science tells you which patterns are real. Clinical expertise tells you which ones change care. When those three move together, data starts to mean something for a patient.

Q: Looking ahead, what excites you most about the future of diagnostics?

A: Two things. The first is the patients who will have options they don't have today. There are people right now with diseases that have no good treatment, and within a few years many of them will. The science that makes those treatments possible is the same science we practice in the laboratory every day, so our field gets to be part of that arrival rather than watch it. If we do our part well, the therapy never waits on the test.

The second is what this does to a patient's experience of their own care. For most of our history, a result was a number on a page that meant a great deal to the clinician and often very little to the patient. Today it can reach them in a portal before anyone has explained it. As results begin to carry their meaning with them — what this means for you, what your risk is, what your choices are — patients can take part in decisions about their care rather than wait to be told. Diagnostics will do more than report what happened. They will help people understand what is possible for them, and help make sure it reaches them.

Learn how Mayo Clinic Laboratories is preparing laboratory medicine for the next generation of therapies by connecting science, data, and clinical expertise to improve care and accelerate discovery.