Obtaining patient samples for the development and validation of new genomic tests is the greatest single barrier to the wide-scale implementation of precision medicine.
Precision medicine, evidence based medicine, and personalized medicine all describe the concept of using molecular diagnostic and other patient specific information to determine the optimal treatment for a patient. While precision medicine looks to harness a wide array of health and lifestyle information, much of the growing excitement is being fueled by advances in technologies that make in-depth characterization of an individual’s genome possible for less than $3,000 dollars, and rapidly approaching $1,000.
While the cost of sequencing an individual’s genome has dropped dramatically, the real challenge for companies is completing the studies needed to demonstrate the clinical validity and utility of promising tests. Most genomic tests are delivered as laboratory developed tests (LDTs). Historically, LDTs are single analyte tests in which the clinical utility or validity isn’t in question, and there is often a known standard that a laboratory can use to validate against. However, many of the newest, most promising tests for precision medicine are multi-gene panels that rely upon a complex algorithm to make a non-obvious medical determination. There often isn’t a standard to compare to. In many instances, clinical validity and/or utility is not easily demonstrated without running a large-scale clinical study.
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