Originally Published in ADVANCE for Administrators of the Laboratory Lab Quality Advisor Blog on January 12, 2015

The development of personalized medicine holds the promise of radically changing the practice of medicine from reactive to proactive. Historically, medical treatment was initiated as a response to the symptomatic onset of diseases — and, because we haven’t fully understood the genetic and environmental factors that cause diseases such as cancer, Alzheimer’s and diabetes, our efforts to treat them have often been imprecise, unpredictable and ineffective.

Personalized medicine is changing this paradigm; it is defined as the tailoring of medical treatment to the individual characteristics of each patient during all stages of care, including prevention, diagnosis, treatment and follow up. This approach relies on understanding how a person’s unique molecular and genetic profile makes them susceptible to certain diseases. Scientists advanced the cause of personalized medicine with the decoding of the human genome.

New gene-based and other molecular diagnostic laboratory tests can also be used to determine the benefits and harms for an individual of taking certain medications. These tests are known as companion diagnostics. Information on an individual’s drug metabolism, for example, can yield information on who might benefit most from a drug and those at risk for atypical adverse reactions. Tests can also inform the optimal dose or treatment frequency needed to achieve a desired therapeutic effect in an individual patient.

The advent and continuing evolution of personalized medicine also offers significant challenges and opportunities for laboratories.

– Since personalized medicine can define the risk of developing specific diseases, the challenge will be for laboratories to work with physicians to integrate traditional diagnostic testing into specific risk assessment profiles. These individualized test profiles will be key in supporting personalized prevention and diagnosis efforts.

– Personalized medicine often begins with the primary care physician. In addition to ordering traditional diagnostic tests, primary care physicians will be ordering genomic-based tests that they are far less familiar with. Laboratories can add value to the physician’s practice through education to physicians, nurse practitioners and physician assistants.

– By providing interpretations of genomic test results, laboratories will strengthen their role of consultant, influencing the management of patients and related clinical outcomes. Thus, lab managers will need to join the healthcare delivery team and play a role in patient management.

– The challenges that labs will face in offering panels of new tests for early disease detection are many. New offerings will likely affect every function of the lab, including staffing, processing, equipment purchases, results reporting, billing, validation and continuous education and training.