A Firefox browser extension developed by 5AM Solutions provides customers of direct-to-consumer genomic services with the full breadth of SNP information in publicly available resources.
The free plugin, dubbed SNPTips, lets users compare their 23andMe raw genetic information with the latest SNP data from online resources such as databases and journal articles.
"With the click of a mouse, you can view your personal genotype at any SNP mentioned [on] the web – such as a genetics blog or journal article," Will FitzHugh, 5AM’s chief science officer, said in a statement. SNPTips also includes links to other web resources, such as SNPedia, Google Scholar, and the National Center for Biotechnology Information's dbSNP database.
5AM’s President and CEO Brent Gendleman said that SNPTips "represents a way to extend [23andMe's] work" by "furthering people’s ability to tackle the complexity of genomics in a way that is straightforward and consumable by a wide audience.”
Andrew Evans, senior information architect at 5AM and SNPTips developer, said that although 23andMe provides its clients with the results of "bleeding-edge research," he wanted more detail than what the company offered.
Evans, who is a customer of the consumer genomics company, told BioInform that he found himself moving back and forth between 23andMe's site and online journal articles — a "frustrating" experience that was exacerbated by the fact that the current version of 23andMe's DNA chip reads about 1 million SNPs.
Evans' solution to the problem was to "mark up the page content with my personal information ... that’s how the whole idea [for SNPTips was] born."
Along with clients' genotypes, 23andMe supplies information on genetic traits, disease risk factors, and predicted drug responses based on the results of scientific literature.
On its website, 23andMe explains that the genetic associations it presents to customers are culled from peer-reviewed scientific articles, which are categorized as established or preliminary research.
According to the company, genetic associations that are classified under established research must have been confirmed in at least two large studies, and/or gained widespread acceptance in the scientific community in addition to being reviewed by a team of medical and scientific experts. Meanwhile, studies that still need to be vetted by the scientific community or contain contradictory evidence are considered preliminary research.
In 2008, Linda Avey, co-founder of 23andMe told BioInform that the company hand-curates newly published scientific literature before updating customers (BI 05/23/2008).
But while the company has taken pains to assure its customers that it is providing only the most trustworthy associations, some users, such as Evans, are interested in expanding beyond 23andMe's vetted results.
Once he came up with the SNPTips concept, Evans said that the next step was to create a tool that could handle the data on the user's machine instead of requiring clients to upload their 23andMe raw data files to a service, a move that would likely have drawn the ire of genetic privacy proponents.
As the webpage is read in, Evans said, the plugin scans it for RS numbers, wraps them with a special markup that adds things like color coding, and inserts a pop-up that displays the user's 23andMe genotype at the SNP location as well as additional online sources of information when the user clicks on the number.
Evans said so far the response to SNPTips has been "phenomenal." Since last week's launch, 200 users have downloaded the plugin so far.
In addition, based on comments from SNPTips users, 5AM plans to build a plugin for Google Chrome, followed by Apple's Safari.
He explained that his firm developed the Firefox plugin first because it was "very easy to put together." He expects that plugins for other browsers will be similar to the Firefox SNPTips design.
Interestingly, the company hasn’t received many calls from users requesting plugins for Internet Explorer, Evans said, noting that most requests have come from users of Chrome and Firefox.
Although SNPTips uses 23andMe's data, it was developed without any input from the Mountain View, Calif.–based company, Evans said. He added that 5AM plans to build plugins for users of other DTC genomics services like Navigenics and DecodeMe, likely beginning with the latter.
Meanwhile, Evans said that the tool seems to have "struck a nerve" in the genetic ancestry community, particularly in terms of looking up and annotating SNPs that indicate where branches in familial trees occurred.
"One thing that we are looking at with SNPTips is providing a mechanism for adding annotation into SNPs so that when you hover your mouse over a SNP in a page, you don’t just get back what your allele is but we could also provide a way for third parties or even bloggers to provide some additional color commentary on the SNP based on an external annotation," he said.
Although SNPTips won't generate revenue for 5AM, Evans pointed out that it offers "a chance to reach out to the industry and get us some nice exposure and show a little bit of what we can do."
He also said that by promoting SNPTips via 5AM's network, the plugin has a much better chance of reaching its intended audience.
Have topics you'd like to see covered in BioInform? Contact the editor at uthomas [at] genomeweb [.] com.