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ResearchMe
A browser-based tool for organizing, analyzing, and researching 23andMe raw data.
23andMe is a personal genetics testing company co-founded by its CEO Anne Wojcicki, former Google exec and wife of Google co-founder Sergey Brin. The personal genetic analysis kit originally included the company's interpretation of an individual's results, including health risks and recommended preventative measures. In November 2013, the FDA sent a warning letter to Ms. Wojcicki, citing the company with marketing the kit "without marketing clearance or approval" as a device "intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease." The concern is that some individuals might make high-risk decisions (such as getting a preventative mastectomy) when the test results aren't provided with a high-enough accuracy, resulting in false-positives and accompanying unnecessary high-risk decisions.
As a result, 23andMe has stopped providing any kind of interpretation and provides only an online ancestry-tracing and relative finder service. They do, however, provide to customers a raw data file containing a list of interesting and high-impact mutation locations in the human genome and what the customer has in his or her genome at that location.
The difficulty for a customer is knowing how to start researching their own genetic profile based on the raw data provided.
I would like to provide a research assistance tool. There are several APIs available, for example, in the PubMed database. The product would likely be a web app, chrome extension, or similar browser tool where the user can upload their raw data file, it would be parsed, and the app would organize the data and provide links not only to information about various mutations, but also use a heuristic for providing reputable articles from PubMed (for example, ranking an article about a specific mutation based on the number of other articles that cite it.
It would not transmit any of the user's data over the internet; it would use local browser storage to store the users genetic file. It would not provide an interpretation of the genetic results; rather, it would give pointers to articles where a user can learn more about what a specific mutation means, including diseases, disorders, or syndromes that have been associated with a mutation.
The audience is a very specific user group (those that have purchased the 23andMe genetics testing kit), but the need exists. I have my own raw data, but I haven't been able to research much about it because of this need.
- Dan Bunker
- Regan Ross