Reactive, point-of-care, preemptive, and direct-to-consumer pharmacogenomics testing

Recent scientific discoveries of genetic determinants of many complex diseases, traits, and medication responses, coupled with the rapid and scalable technological advances that enable the interrogation and comprehensive characterization of these genetic underpinnings, have propelled the adoption of genetic testing into clinical care. These genetic tests have the potential to assess risk of inherited traits and diseases as well as predict the risk of therapeutic failure and/or adverse event after a medication therapy. Pharmacogenomics tests can be performed in a “reactive” manner, which means the test is ordered to guide the use of a particular medication or an attempt to explain an adverse medication response. These tests can take approximately 2-7 da or longer to return results, which will impact the clinical course that the clinician may want to take. As such, point-of-care tests may be a viable option. Alternatively, many institutions have taken the “pre-emptive” approach to alleviate the challenge of the long turnaround times. Commercial laboratory companies have also leveraged this discipline’s knowledge and technological advances to design direct-to-consumer test products for the average consumer. In this chapter, we describe each method of testing, its challenges and advantages, and also highlight model programs around the world that are using it in practice.