“We came with the idea to bring digital media interfaces into genomics and organize the genome data as digital music files,” says Dr. Merel. Portable Genomics mostly works with datasets provided by 23andMe, but it anticipates using full-genome data from any other provider in the near future. The list of traits that is provided after genotyping can be downloaded as a large file of raw data that contains a list of SNPs.
“We rearrange full-genome data about diseases and traits into an mp3 structure, and provide a file that can be read by iTunes or any similar software,” explains Dr. Merel. The data files can be stored and shared as digital music, on various types of devices, including mp3 players, iPods, and digital TVs, and even cloud-based digital music services, such as Amazon Cloud Player, Google Play, or iTunes Match.
While it is often challenging to bring computers with 3 GB datasets to a consultation, the availability of the data on a portable device, such as a smart phone, which is supposed to have an mp3 player embedded, allows patients to share the information with healthcare providers, and a physician can rapidly sift through high-risk traits.
“By early 2015, we anticipate providing a subscription-based mobile application for the full genome for approximately $100 a year,” says Dr. Merel. This visualization tool will facilitate the incorporation of genomic information into prevention strategies. “We have designed a few functionalities to help patients learn about their risks and susceptibilities and allow them to take action,” explains Dr. Merel.
For example, the application can use location information to help a patient who learned about a heightened risk for breast cancer promptly identify a specialist nearby. For every trait that is reported, a function will remind patients to schedule appointments, and will do so until an appointment is made.
“If we want to help patients use genomic information for prevention, we need this kind of application, because we know that we cannot rely on people spending time to examine their genetic risks and explore the course of action,” says Dr. Merel. Additionally, real-time updates will incorporate newly emerging links between mutations and risk factors. “Genomics will be such a moving field during the next 25 years that access to real-time monitoring is crucial,” emphasizes Dr. Merel.