Personalized Medicine: Opportunities and Challenges For The Laboratory
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
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
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