|23andMe logo, Source|
Before we start discussing its implications, let's briefly talk about what 23andMe is actually doing for its customers. First off, 23andMe is not performing any kind of sequencing of DNA, which has been a point of confusion for some of my friends and family that I have talked to. Instead of sequencing, 23andMe is performing genotyping, which means that they are testing for the presence or absence of specific genes or gene mutations within genomic DNA. Check out the video below for a basic overview of the procedure (provided by 23andMe on Youtube). The resulting information from 23andMe is a report of the different genes or mutations in the subject's genome, and a summary of what that information might mean for them. This information can then be used to provide potential medical and educational information, as well as information for researchers who will use the collective data from all subjects as a database.
The medical implications of this procedure catch most peoples' attention. The great promise of genome sequencing, as well as genotyping, is widely appreciate and we are all eager to use our genomic information to improve our health (through disease prediction, drug response, etc). However, as 23andMe and myself are quick to point out, the methodology used is not FDA approved, its medical relevance is in early stages for most diseases, and even if the tests were approved and better worked out in every case, genotyping alone cannot explain most disease states (see the 23andMe letter to physicians). Therefore, because the direct medical impact of 23andMe's services are admittedly limited, the main goal of the company is to provide education to its customers. In their letter to physicians, the company states their goal is to inspire the customers to get more involved in understanding their health and to promote greater education in genetics. So for direct medical applications, this is not going to do as much as we might hope, but as far as promoting education and a greater enthusiasm for health (which itself will probably help increase health), this is going to be an awesome tool and I am glad that they are doing it.
Not only is 23andMe providing a cool tool for health awareness and education, they are also providing a great resource for biomedical researchers. As was one of the themes of the translational research symposium I attended last week, large databases of genetic information for cohorts of thousands of people are continuing to be great resources for biomedical research. Often research is conducted as a genome wide association study (GWAS) which basically means that researchers take databases of thousands of people, separate them into groups based on their disease states (i.e. those with type 1 diabetes and those without), and look for genetic trends. The results are basically a list of genes whose presence/absence/mutation are associated with disease, and these can be used to provide insight into potential molecular mechanisms, improve diagnostics for disease, and other medical research applications.
23andWe and it looks like they are actively working on researching the genetics of disease. The company is open to collaborating with researchers and have a list on their website of many studies they helped with or provided information to. They also employ researchers who conduct research to improve the value of their genetic screens by discovering more association that they can use to better educate their customers. This research is valuable for advancing biomedical science, and it will also allow the company to provide more up-to-date information to its customers as it makes new discoveries.
Because of its unique contributions to medical care, education, and research, 23andMe is an exciting company and is definitely going to continue to affect biomedical research in a positive way. In addition to providing unique insights into our understanding of genetics through its research, 23andMe is doing an awesome job of promoting science and medical education, as well as promoting an enthusiasm for genetics, among the general public. Promoting medical enthusiasm and education will be important for helping people live healthier lives, and allowing people to participate in research is great for promoting an understanding of biomedical science. This will be an interesting field to follow and I am excited to see what they do in the future at 23andMe.
For further reading about the 23andMe approach to medical research and application, check out the paper below published in PLOS Genetics.
Nicholas Eriksson, J. Michael Macpherson, Joyce Y. Tung, Lawrence S. Hon, Brian Naughton, Serge Saxonov, Linda Avey, Anne Wojcicki, Itsik Pe'er, Joanna Mountain (2010). Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits PLOS Genetics DOI: 10.1371/journal.pgen.1000993
*DNA sequence stock photo from <http://thewinnower.com/wp-content/uploads/2013/09/DNA-sequence.jpg>