23andMe is a well-recognized brand for consumers who want to understand their ancestry. With a small amount of saliva, 23andMe provides users a detailed breakdown of a user’s ancestry across over 2000 regions. Additionally, users can opt in to find distant relatives, receive a break down of interesting traits (such as propensity to sneeze in sunlight), and probability of developing diabetes, breast cancer and celiac disease. 23andMe does this through extracting DNA from saliva samples and processing the DNA on a genotyping chip to identify variants. 95% of human DNA is the same and genotyping is the analysis used to identify variants that help 23andMe to paint the picture of who their individual users are.
While the product is impressive for its ability to rapidly process genetic data and deliver insights to customers, it is how the company has used the collection of big data to develop novel drugs and further scientific research that is particularly interesting. When a user sends in their saliva kit, the user has the ability to opt in or out of having their data used for research. If the user chooses to opt out, the data is discarded after 30 days. It is unclear if the data is used within that 30-day window for research, but 80% of users chose to opt into the research. With ~10 million samples collected as of 2019, 80% of research usable samples has left 23andMe with at least 8million DNA samples to be used for deep research. The further power in this data set is that samples come from individuals who are “re-contactable” so follow up surveys and questions can be asked. This immense amount of data has proven hugely lucrative for the company. In 2018, pharma giant GlaxoSmithKline acquired a $300M stake in 23andMe in exchange for access to the genetic data. The data will be used to both develop new drugs and to better identify patients to speed clinic trials.
23andMe has also actively transformed their huge database into a discovery machine and developed a novel drug in 2020. The company looked at traits across its user base to develop a molecule that blocks signals that lead to autoimmune diseases. The drug was tested on animals internally before being sold to Almirall for human testing. This drug development is just the beginning for 23andMe who have a pipeline of more than 30 therapeutic programs, spanning oncology, respiratory, cardiovascular diseases, and more.
While the applications for this data and analysis are powerful, ethical concerns have arisen over the privacy and use of people’s genetic data. First, there is the concern about privacy. While 23andMe emphasizes that users data and information are securely protected, both hacking and police warrants for data pose threats to the privacy of the information. Secondly, upon sign up users agree to give up their data for research with the knowledge that they will never financially benefit from the results. This raises questions of how 23andMe will price prospective drugs given this huge free input of data for which participants are not compensated.