Advances in computational science and biology enable us to understand ourselves in ways that we could not just a few years ago. Co-founded in 2006 by Anne Wojcicki, wife of Google co-founder Sergey Brin, 23andMe has emerged in the digital age to provide a view of our personal genetics – all for less than $100!
23andMe is evidence of Moore’s Law at work, and, in addition to giving unprecedented insight into our personal genome, efforts like 23andMe have innovative potential to change the way drugs are found and developed.
How does it work?
After signing up on-line, 23andMe will mail you a small kit where you submit saliva and mail it back. Within 6-8 weeks, you will receive your genetic results and be able to explore your ancestry and health including carrier status, disease risk, and drug response.
Through a series of questionnaires, 23andMe gathers information to build a body of knowledge used to correlate phenotypes – observable information like traits, behaviors, habits and symptoms – and what is imprinted in our genotypes. The more we give about ourselves, the more we contribute to the body of knowledge required to identify potential correlations that can lead to new, validated knowledge about health and disease.
It’s a give and get that I’m comfortable with, as it’s both fascinating and impactful for me to understand ways to manage health-risk based on my genetics. In my case, I have an elevated risk of prostate cancer compared to the baseline male population. You can bet I have shared this with my doctor and that I will diligently monitor and test for prostate cancer markers as part of managing my health. In addition, I’ve been able to connect with a 4th cousin living in Poland and learn just a little more about my ancestry.
Another 23andMe journey taker, Mela Drakatos, initially had reservations about being asked to share personal information as a part of the registration process.
However, Mela enjoyed the experience and speaks of her helping to source information to advance scientific discovery:
23andMe has created a generative marketplace around genetic information by managing a call and response between individual patients and researchers. The more people who sign up, the larger 23andMe’s database grows and, as those of you who work with data know, the chance of finding significant correlations (i.e. new discoveries) increases. By making DNA personal and sharing more information, people are motivated to contribute. In a time when one’s own personal health information is surprisingly difficult to acquire, 23andMe puts this information in the user’s hands and gives them the opportunity to participate in the scientific process.
Beyond the personal give and get
23andMe has a number of disease specific communities, and about 200,000 people who have contributed data overall. An article in FierceBioTech highlights how 23andMe is looking to work with pharma more closely to leverage their data to learn more about disease.
The company is conducting research using genetic profiles combined with gathered personal phenotypic information to identify potential disease targets, and has begun to patent those genetic targets. The 23andMe business model goes beyond the $99 consumer transaction for a personal genome, and looks to participating in the business of drug research and development.
Some raised eyebrows
However, this type of usage of the 23andMe data is raising eyebrows. The Verge asks “are you the consumer or the product” and raises ethical questions about what it means to own your own data in 23andMe. It features a reminder from Jon Wilbanks that we need to be aware of potential long-term consequences.
23andMe has really ramped up on rhetoric. Their messaging is, ‘own your data.’ But data companies — as they get larger and monetize — are less likely to give you back your data. It’s part of our job as the broader community to hold them accountable.
While 23andMe has released an API that allows developers to interact with the data, Wilbanks raises warnings about the possibility that 23andMe might wall off the 23andMe garden. Using examples of Twitter and even Facebook, Wilbanks reminds us that the company who’s API you’re developing on top of ultimately holds the keys to the data.
You can donate your genotype to the commons
Today, after you receiving your 23andMe results, it’s possible to submit your genotype to support shared, open science in a commons like Sage Bioscience Synapse using Portable Legal Consent. What is Synapse?
Synapse is an innovation space that brings together scientific data, tools, and disease models into a Commons that enables true collaborative research. The platform consists of a web portal, web services, and integrations with data analysis tool and is organized around novel “Analysis Communities” that any scientist can create or join. (source: sagebase.org)
So, in addition to supporting 23andMe’s research effort, you can contribute your genetic information to open research. For me, it was an interesting experience to really consider what I wanted to do with my data, and I chose to contribute it to Synapse.
What’s it all mean?
We live in a time where technology advances occur so rapidly that new business models can be formed to disrupt existing business – think about the music or book business to see how technology can drive change.
The model of drug development is not immune to this kind of change, and, in fact, Lilly COI has been formed to explore how clinical development can be transformed. However, as in the 23andMe example, changes to drug R&D will not come without having to work diligently through ethical and moral questions. It’s difficult, challenging work, but any disruptive change to established business models require that it be held to high levels of scrutiny and be assured it will serve a public good.
Your comments and thoughts on this subject are welcomed!