Prof. dr. P. de Knijff

The power and pitfalls of personalized genomics

Workshop Leader: Prof. dr. P. de Knijff

Department: Human Genetics, Leiden University Medical Center

Direct-to-consumer (DTC) genetic testing is a rapidly growing and commercially very attractive industry. Many on-line companies offer DTC tests that are primarily aimed at two completely different genetic research questions. 

The first and least harmful test is the one that is aimed at providing the requesting customer information about his/her genetic ancestry.  In other words, it tests from what part of the world your genetic ancestors come from. The second and much more dangerous kind of test is the one that provides the individual a detailed insight into his/her risk for the eventual development of dozens of genetically determined disorders. Such tests claim to provide a detailed insight in, e.g. the risk of developing Alzheimers disease, or acute myocardial infarction.

Because such tests are offered freely (but not for free) on the internet, and are hardly subjected to any regulation, patients have unlimited access to genetic data that would otherwise only be known after consulting a well-trained medical doctor. Armed with results of DTC tests, patients can now visit their physician, and ask for explanation. This will come as a big surprise to many medical professional, and has raised serious concern at many legislative levels.

Since the best proof of the pudding is eating it, I asked two of the best on-line DTC companies to test myself. In my workshop I will discuss the results of my own DTC tests in detail and hope to be able to initiate a heated debate about the pro’s and con’s of DTC testing.