“The lab is the center of everything we do in medical care. All patients get lab testing at some point in their lifetime.”
“The lab is the center of everything we do in medical care. All patients get lab testing at some point in their lifetime,” said Karen Kaul, chair of the department of pathology and laboratory medicine at NorthShore University HealthSystem (NorthShore). Kaul previously led NorthShore’s prominent molecular diagnostics laboratory division, which now provides DNA-based testing for the health system’s new Center for Personalized Medicine.
“While labs are only 3 or 4 percent of the overall healthcare spend, we dictate 70-80 percent of the downstream care. That means we have to get it right because the impact we have is really far-reaching.” Indeed, it would seem the lab is riding to new prominence on the coattails of an emerging age of more focused, personalized medicine. Or, maybe it’s the other way around. “Labs have been doing ‘personalized medicine’ for a long time already,” reminded Kaul. “For example, pathologists have long approached diagnoses in an individualized manner, using immunostains and other studies to provide detail on an individual patient’s tumor. But the recent explosion in our knowledge and our capacity to analyze tests using DNA-based methods has really shot us into the limelight.”
Kaul noted that not only have many patients been unaware of the deployment of DNA-based diagnostics for some three decades, so have clinicians. That fact underscores the importance of trumpeting the exponentially expanding value of MDx. “These tests add additional information, sensitivity, specificity and accuracy that we don’t get with other methods. And speed – unprecedented speed. For example, in the detection of mycobacteria or viruses, we can get answers out in a few hours if we look for the DNA of an organism, whereas waiting for an organism to grow in culture could take weeks. This sort of progress was the precursor to what we are doing now in the laboratory – getting better answers out quickly to offer better clinical management of patients.”
Personalization Depends on DNA Testing
Kaul made another salient point: Without DNA-based testing, there could be no personalized medicine. “To me personalized medicine is defined as genome-informed clinical management of patients. You have to start with analyzing DNA. Whether that is done in-house, or sent out to larger reference labs, the clinical management relies on this genetic information,” she explained.
“In the labs, we see this as an important evolution,” said Kaul. “We’ve been looking at some things in microbiology where a faster answer might get a patient out of isolation faster, on to the appropriate antibiotic more quickly, and that brings cost savings that are real and significant. Similar improvements and savings can be realized for cancer. This is part of that evolution I’ve been talking about. We used to look at tissue solely under a microscope and say, for example, ‘It’s lung cancer; it’s non-small cell.’ And then the patient would have chemotherapy, and respond or not. But now part of the standard workup for several cancer types is to look at several genes and identify mutations that could impact success of therapy. In the last 10 years we’ve gone from one gene to a dozen or more genes that we need to study to provide a full assessment of a tumor. This is key. A continually growing number of genes provide critically important information.”
In addition, molecular-based assays afford healthcare an opportunity to look at outcomes of chemotherapies and make life-saving or extending improvements. “Now we can learn more about what types of treatments will be most effective for a particular patient,” said Kaul.
Saving Lives – and Costs
And while better patient care is at the heart of the effort, healthcare facilities will also reap an eventual benefit of cost savings. “There is not only a very precious patient outcome that you cannot put a price on hanging in the balance, but there is also a cost of administering an incorrect chemotherapy, wasting expensive medication and human effort. Why waste the cost of the drug and the nursing time, the infusions, the clinical costs?” Kaul asked rhetorically.
She added that the quickly evolving status of care can only be characterized as “absolutely amazing. We’ve been chugging along with molecular diagnostics since the 1980s, but we are now a decade or more past the Human Genome Project and data is really percolating into clinical care. Also, the platforms we have to analyze DNA have evolved – the next-gen sequencers allow us to get the information we need better than traditional sequencing and other methods. With the new emphasis on genomics, there are clinically practical and affordable platforms making their way into hospital laboratories and reference labs, and we can employ them in such a way that the quality, turnaround time and cost are in a range that we can take advantage of them for clinical care. It’s a combination of the knowledge base expanding in tandem with the analytic capacity.”
Kaul is keen on the fact that much can be done with MDx locally in a patient’s home facility. “Using cancer as an example, I think it’s important to have that testing in the hospital where pathologists can look at the sample, and make sure we get just the right sample going into the sequencer. When we do all of this locally, we can get the whole case put together, get the answers quickly and present it the next tumor board when the patient’s case is discussed and treatment decisions are made. Having some of this stay local translates into better coordination across all of the services involved in that patient’s care, which does include the laboratory as well as a more coordinated clinical care for that patient.”
Kaul said that as medicine moves forward, it will be classifying many diseases based on their molecular defects rather than what they look like clinically or under a microscope. “This is a huge paradigm change in medicine,” she said. “Considering the molecular status of genes in how these diseases are classified will, in turn, determine how they will be treated, particularly for those where we can target a specific defective gene that is driving the disease. We are seeing improved outcomes. It’s phenomenal.”
A capacity for truly personalized medicine may well begin in the laboratory, and it will challenge laboratorians, clinicians and all stakeholders to keep up with education and infrastructure needed to continue the evolution and reap the rewards. “This will virtually change all of medicine, as we learn more about all diseases and the genetic defects underlying so many of them. We’re in this period now where we need to figure out in an efficacious, quality-effective and cost-effective way and to keep up with the changes,” said Kaul. “It is a very exciting and challenging time in medicine.”