Like many such advances, availability of [direct to consumer genetic] tests is a double-edged sword. On the one hand, it has been a boon to patient awareness and engagement around genetic susceptibility and the value of injecting greater precision into the care process. On the other hand, it has introduced an “end-around” channel that bypasses the provider who plays a significant role in interpreting the meaning of test results and determining what impact the data may have on future diagnostic and therapeutic decisions.
This has placed providers in a challenging position. In some cases, patients are producing DTC test results during an encounter, rendering the clinician unprepared to factor details from this unexpected information source into immediate decisions.
[Physicians should] ensure patients understand what genetic and genomic results actually mean (and this is true for both DTC and clinical tests). Consumers may view the commercial BRCA1/BRCA2 results as a definitive indicator (“yes, you are at risk” or “no, you are not at risk”), for example. Consequently, they may come to misinformed conclusions such as thinking they can forego breast self-exams or annual screenings – or that they should seek a radical mastectomy. Providers realize this is not the case and, during an appropriate one-on-one encounter, can explain the nuances of cancer risk and susceptibility, and how genetic results can help guide better care decisions going forward.