In his 2015 State of the Union address, President Barak Obama launched a Precision Medicine Initiative stating: “Doctors have always recognized that every patient is unique, and doctors have always tried to tailor their treatments as best they can to individuals. You can match a blood transfusion to a blood type—that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as simple as taking our temperature?”
Whereas there are a number of barriers to personalized medicine in the general pediatric practice such as cost of testing and lack of knowledge and expertise in genetics, personalized medicine is increasingly making its way into pediatric practices. The pediatrician is likely to experience parents who have undergone some sort of prenatal genetic screening, purchased a direct-to-consumer test from companies such as 23andMe, and want help in evaluating the results. Increasingly, the pediatrician may be asked to evaluate and offer patients genetic tests that may aid in both diagnosis and treatment of a number of pediatric conditions.
What is personalized medicine?
Precision or personalized medicine can be thought of simply as the right drug for the right patient at the right time. At its core, personalized medicine seeks to use a patient’s genetic information to guide decisions for the prevention, diagnosis, and treatment of certain conditions.
What are the benefits?
Today the pediatrician begins treatment mostly with therapies with demonstrated benefit to the general population.
Personalized medicine may benefit patients in a number of different ways:1,2
· Anticipate which patients are likely to get certain diseases based on their genetic profile.
· Deliver therapy based on genetic testing instead of a trial-and-error approach.
· Reduce exposure to less therapeutic medications and treatments.
· Avoid toxicity of drugs less likely to produce a therapeutic effect.
· Improve patient satisfaction, tolerance, and compliance by quickly identifying a treatment more likely to be effective.
However, it is not always clear that genetic testing will be beneficial. In one evaluation of a direct-to-consumer testing program, provision of genetic results failed to change anxiety levels, dietary habits, exercise patterns, or increased use of screening tests.3 Additionally, skeptics cite the high costs of testing, gene environment interactions where behavioral interventions are highly effective, and a lack of other treatment options based on genetics as reasons not to pursue genetic testing.4,5