Last Friday, I watched a documentary about whole genome sequencing; it’s benefits and consequences. A good portion of the film was focused on the use of medically driven whole genome sequencing for diagnosing and treating conditions. This involved background information about illnesses, case studies and potential future applications of genotyping.

While most of this may seem like the stuff of research labs and investigators, genotyping is fairly accessible to the general population. There are a large number of companies that provide genetic information based on samples that have been submitted to them. They usually focus on specific genes and traits, as opposed to providing a whole ‘map’ of an individual’s genome.

Initially, these tests were considered ‘fun’ activities. They provided information about ancestry, or certain quirky facts. However, companies like 23andMe have focused on also presenting customers with information about genetic predispositions to illnesses and conditions.

With a $99 fee for a test, shipping and ~8 week wait, 23andMe is arguably the most convenient method of finding out more about genetic predispositions. It may be beneficial, as 23andMe is now offering to detect genetic predispositions for late-onset Alzheimer’s by analyzing the APOE gene.  This is useful since research has indicated that specific mutations in this gene may in an increased likelihood of developing late onset Alzheimer’s. It would difficult information to learn of but it would provide individuals knowledge that they may find useful/want in planning for their future.

However, these results may not always be helpful or accurate. Even though 23andMe states that they do not provide diagnostic testing, customers may often view their results as a diagnosis. They may take measures into their own hands, without consulting a professional about further testing or medical options. This is unsafe since a significant number of conditions are not caused only by genetics, but also by the environment and other factors.

Keeping that in mind, tests like these have both benefits and consequences on an individual’s level. There are more issues when looking at the broader picture: like the aggregation of genetic information and the potential benefits and risks associated with such databases.