Researchers from Tel Aviv University have released a beta version of a genome analysis application for mobile devices to help physicians and individuals interpret and use information on the genes and mutations that make up the human genome.
The tool is intended to offer newly sequenced individuals a way to analyze their genetic data and gain a better understanding of their particular genetic traits including how these could increase their risk for certain diseases. It is also intended to help physicians and clinical researchers' access information about genes and variants that might bear on their patients' treatment or shed more light on particular areas of research interest.
For example, it could help users identify mutations in rare genetic diseases or select more tailored treatments for patients, Noam Shomron, a professor of cell and developmental biology in TAU's Faculty of Medicine and one of GeneG's developers, told BioInform. Prospective parents could also use it check themselves for potentially harmful mutations that could be passed on to their children.
The beta app, which is now freely available for the Android operating system and will soon be available for iPhone users as well, offers a snapshot of some of the capabilities that the full version of the tool will offer when it is launched. The development team — which also includes two graduate students, Ofer Isakov and Gershon Celniker — will release the first full version of the tool to physicians later this month ahead of a general public release sometime in the next few months.
The sampler app lets users compare a small dataset from a hypothetical family trio that have mutations for diseases like cystic fibrosis, Parkinson's, and esophageal squamous cell carcinoma. It includes detailed information about things like frequency and heteroygosity, as well as about the impact of each family member's genes on things like health risks and drug response. The full version of GeneG will add search capabilities to these existing features that will let users hone in on specific genes and variants of interest.
By releasing an abridged version of the app first, Shomron said that the developers hope to get feedback from physicians and the general public alike in terms of what sort of information they would like to be able access via GeneG. The delay also gives TAU time to put in place proper regulations that will govern the tool's use and protect the university from any liability when it's released more broadly.
So far, Shomron said that those who have tested GeneG have had different reactions to the app with some asking for a broad spectrum of information on genes and variants and others wanting to access information about mutations with immediate health risks. To address both needs, users will be able to customize the app to supply what information they want to receive. As an example, a colon cancer specialist could customize the app to provide information about specific genes and variants tied to tumors of the colon, Shomron said. On the other hand, an individual might choose to customize the app to provide information about their unique mutations or just mutations that increase their risk for disease.
For now, GeneG focuses primarily on exome sequence analysis simply because it's more widely available but it can work with whole genome data as well, Shomron said.
To use the tool, individuals must create accounts and then upload VCF files of their data to the developers' website where it's analyzed using algorithms that classify genes and variants into modules based on factors such as disease risk and availability of treatments or patient management strategies. Severe BRCA mutations are an example of variants that might be classified in these groups, Shomron said. Knowing that the risk of breast cancer is much higher in this case, a physician might recommend more frequent mammograms for the individual in question.
Users can begin accessing the results of their analysis a few hours after they've uploaded the data by logging into their accounts through the mobile app. It's not clear at this point whether the full version app will be free or if users will have to pay for it.
GeneG is part of a growing wave of analysis apps developed by academic groups and commercial companies that take advantage of the ubiquity of smart mobile devices and the groundswell of interest in whole-genome and whole-exome sequencing along with the plummeting costs of these technologies.
One recent example is the Harvard Medical School where researchers in the institute's Biomedical Cybernetics Laboratory released two free iPad applications this past summer that are intended to help clinicians assess diabetes risk and improve treatment compliance in patients — children in particular — with the disease (BI 8/9/2013).
Last year, 23andMe released an application programming interface that would allow authorized third-party developers to build a broad range of apps for web and mobile devices. At the time of the launch, the company told BioInform that these could include things like an app that would incorporate an individual's DNA into his or her family tree, apps for running candidate gene studies, and a sleep-tracking app that would import SNPs associated with caffeine metabolism and circadian rhythms (BI 9/21/2012).
Meanwhile, Portable Genomics, a La Jolla, Calif.-based informatics startup, is trying to build a business out of developing applications for browsing personal genomic information on mobile devices. The company offers a free app called GeneGroove which creates musical tunes based on individuals' 23andMe analysis results. It's also working on Portable Genomics 23, an app that would let users visualize their 23andMe results and provide interpretations of genetic traits identified by the company's analysis (BI 2/17/2012).
Finally, Illumina offers a genomic data visualization app for iPads called MyGenome that lets users visualize and compare their genetic variants to reference sequences, explore genetically determined conditions and predispositions, and review the impacts of variants on more than 250 conditions and traits. In an interview with BioInform during its prototype testing phase, Scott Kahn, Illumina's chief information officer, said that the app is intended to get genetic information into individuals' hands for a variety of uses and to enable Illumina to help shape how genomic data is used (BI 8/20/2010).