I haven’t posted on genomics in a while, so it’s about time. Two weekends ago I attended the Sage Bionetworks and Science Commons 1st annual Sage Congress here in San Francisco. The main aim of the conference was to begin to gather science folks from across the country and begin thinking about making scientific research and data sets more open. While that may seem like an easy task in the era of open source, it’s tricky from many perspectives and the effort still has a lot of skeptics. But, more on that soon – personally, I think Science Commons and Sage Bionetworks are brilliant ideas.
At the conference Anne Wojcicki, co-founder and president of 23andme gave the keynote on the last day of the conference (video at right). To be fair, in the past I’ve been skeptical of 23andme – particularly from a clinical perspective. And, the MD side of me remains skeptical of genetic testing in general – at this point we know too little to apply genomic information to clinical care. There are a few exceptions, like breast cancer and a few other diagnostics, but otherwise in my humble medical opinion tests like 23andme should be used with a skeptical eye from a clinical and medical perspective. Again, there are a few case examples of where genetic testing has helped, but those remain too few and far between.
All that said, something about Anne’s keynote struck a chord with me – the amount of phenotypic data that the company is gathering in conjunction with their tests holds tremendous promise. Consumers purchase the test, and once their results are delivered, 23andme asks the consumer to participate in a series of surveys about their health and physical traits. To date, as was mentioned time and time again at the Sage Congress, research efforts to link patient, clinical and genomic data have proven to be arduous, time consuming and expensive. But, 23andme is capturing it right out of the box.
It’s hard to really convey how valuable this data truly is. A lot of the genomic data and research the scientific community has done to date has been on a couple cells in a petri dish or in mice, etc. Less has been done in humans, but that’s changing. With the collection of millions of genetic data points per consumer plus their trait/phenotypic data via 23andme, that will all begin to change much more rapidly. Being able to directly correlate genes to their traits will be a powerful tool for researchers to help push our genetic understanding and medical knowledge forward.
What makes 23andme special is that they’re utilizing social media and other consumer internet approaches to engage consumers and get them to provide their data essentially for free. While this might sound intuitive to most internet junkies, it hasn’t been for much of the scientific community. Indeed, from my perspective at the Sage Congress, 23andme’s approach seemed to me met with a bit of skepticism from the community – and this was an even more open and broad thinking group of people. But, it’s working. Consumers are readily contributing information, but it’s because of 23andme’s social media and internet approach. Not only will it change consumer genetics, but I bet that 23andme’s approach will alter how we collect research data, which will in turn, accelerate breakthroughs.
This shift in thinking will be critical as genetic research and genetic testing moves forward. Genes are far from being directly causal – i.e. very rarely does one gene lead to one distinct feature. And to uncover the patterns of the chaotic interaction of genes and their environment, gathering the type of rich data that 23andme does with their surveys will be absolutely critical as we move forward. Part of the next movement in genetic testing and genetic discovery will also require new tools to deal with massive data sets and help us find those needle-in-the-haystack discoveries that shed new light on human health and disease.
And, to boot, one large win for society with companies like 23andme is that they are making consumers more and more comfortable with the concept of genomic testing. That in and of itself is a tremendous value to the market and for research. In the future I predict that we’ll look back on efforts like 23andme as landmark and critical to helping us reach the next plateau of genetic discovery and understanding. And, because of that and 23andme’s awareness of that fact, I think they’ll be successful in the long run.