Measurement

Quality in your Genes

Is your body programmed to get cancer? How about Parkinson’s, or multiple sclerosis, or diabetes? With 23andme.com, you could find out if you are predisposed to these or 19 other diseases simply by spitting in a cup. In addition, you can easily donate your data to further medical research. These are the same kinds of tests used to diagnose cystic fibrosis and Down’s syndrome prenatally, and have earned a measure of trust within the medical community. Now, genetic testing is a service offered to just about anyone – even outside the hospital or doctor’s office. (It’s not free, but what’s $399 for a little peace of mind – assuming that’s what you end up with?)

That’s not where the fun ends, though. If you’d like to meet other people who share similar genetic characteristics, no problem – one someone writes a mashup between a social networking site like Facebook and your 23andme genome data, it will be as easy as adding a new tab to “My Networks”.

Diagnosing genetic profiles is a high-stakes game for two reasons: quality and ethics. The quality of the genetic testing procedures, the calibration of the lab instruments, and the handling of the samples are all aspects of the process that must be carefully controlled. Failures can result in minor consequences (e.g. a sample is lost and the subject has to spit in a second cup, then wait longer to get the results) or major consequences (someone is incorrectly told that they are predisposed to a life-threatening condition, and because they can’t bear to get it, they commit suicide). Fortunately, quality control is taken very seriously in this domain, as the QC process from Kalman et al. (2005) indicates.

The ethical issues can be a direct result of the capability of the process to produce accurate and reliable results. But is it appropriate to offer this service on such a large scale? What are the consequences of knowing versus not knowing, on both a personal scale and on the scale of society? Without probing these issues in more depth, and understanding how laws and regulations could counterbalance potentially austere social consequences, it’s a risky service to offer. Some people might be able to handle the information; some might not. (Imagine being in high school and getting dumped by someone who checked your genome, found out you’re predisposed to psoriasis, and thinks that’s gross.)

I’m not sure how I would respond personally to having such information, assuming that it was accurate and my sample wasn’t swapped in the lab with someone else’s. But the concept is interesting enough that I just might try their demo and explore the genomes of the Mendels, a hypothetical family.


Kalman, L., Chen, B., & Boone, J. (2005). The genetic testing quality control materials program (GTQC) – a sustainable community process to improve availability of appropriate, verified quality control (QC) materials for genetic testing.
Kotler, S. (2008). Spitomics: Spit-in-a-cup genomics has arrived: now what? Science Progress, 10/28/2008.

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