Genomic Testing Makes Consumers Less Confident in Understanding Genetics (And That’s Probably Okay)


After reading a comprehensive report on their own personal genome, consumers reported knowing less about genetics than they did before.

Wait, what? How could that be?

We’ll get there. First, a little background.

You’ve heard of people getting a genetic test for a specific condition — parents-to-be seeing whether they are carriers for inherited conditions like Tay-Sachs disease, or women with a family history of breast or ovarian cancer (Angelina Jolie, most famously) testing for BRCA mutations. Personal genomic testing goes much further than that. Instead of looking for one or a few specific genetic markers, the test results include a huge array of genetic variants which may range from the simple and trivial (can I curl my tongue?) to the complex and serious (do I have an elevated risk of heart disease?).

Personal genomic tests might be ordered through a health care professional — but not necessarily. There’s also direct-to-consumer (DTC) personal genomic testing, in which the consumer places an order with a private company, sends in a sample of their DNA (a bit of saliva or blood), and receives their results directly from the company. In this model, the consumer never has to talk to a doctor — it’s all over the counter, so to speak.

Several companies started offering these at-home tests about a decade ago, and they have been under quite a bit of scrutiny ever since. The FDA has been slow to grant approval of DTC genomic tests for health purposes, and some states have effectively banned them. Many of the recurring concerns revolve around how consumers deal with the test results. How will they know what to do with all of this information? What if they misinterpret their results? What if they —> Read More