Clinical OMICS

MAR-APR 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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www.clinicalomics.com March/April 2018 Clinical OMICs 29 onset like ApoE-E4 that increases the risk for dementia, I think it's really important that people opt in to get that kind of information," said Estep. Future Directions "We are probably on a tipping-point today, which leads from close to zero demand to nearly universal demand for personal genomics, analogous to the change from zero to millions of website users in 1993," commented Church. The value of personal genome sequencing is becoming more widely recognized. While those who have had their genomes sequenced to date are mostly wealthy 'early adopters' or individuals taking part in research, it seems probable that this technology will become mainstream within the next decade. "We are not going to see the use of the whole genome or exome for purely preventive care for apparently healthy people for a while," suggested Estep, "but I think in that time frame it will definitely move into the clinic and be reimbursable." The Personal Genetics Education Project and similar organizations are rapidly improving the genetic literacy of the current and future generations. Software developers, such as those using the Sequencing.com platform (see sidebar), also have a key role to play in helping healthcare profes- sionals and individuals manage the enormous amounts of data produced through personal genome sequencing. "By 2025, the amount of genetic data is going to start to become the largest data source within the world. That means it's really about how we protect that data and how we provide value surrounding it to the people that own it," concluded Sequencing.com's Colby. Revolutionizing Genetic Data Analysis Software company Sequencing.com is the brainchild of its founder Brandon Colby, M.D. Developers can use the online plat- form to access genetic data from numer- ous sources and develop apps for use by individuals who have completed a genet- ic test or had their genome sequenced through an external provider such as 23andMe or Veritas Genetics. With close to 50 apps, it is now the largest online platform offering this type of service. "Sequencing.com came about because I saw that there were all these different data sets that were being generated and they were all in different formats. It was very confusing for people who were cre- ating analysis of that data," Colby told Clinical Omics. "We take all of these differ- ent inputs and deal with the headache of standardizing them and then we deliver them in whatever format that app devel- oper has configured for their system." When asked about the business model of Sequencing.com, Colby com- pared it to the App store for an iPhone or the Android equivalent, in that the company makes a profit when apps are sold by charging a 25% commission on the price of the app. Developers can also subscribe monthly to use Sequenc- ing.com's Real-Time Personalization API in their apps. A key principle of sequencing.com is facilitating open access to genetic information. "We believe that the ge- netic data, the raw data is owned by that individual. We don't sell access to that per- son's data. We don't make money by sell- ing access to pharmaceutical companies or any third parties. Instead, we believe it's a person's right to choose what apps they want to use and how they want to analyze that information," said Colby. "The closest to us is a company called Helix, which is more of a closed system. You have to have testing through He- lix and then the data is only available through them. You can't download the data and you can only use it with Helix apps," he added. While there is not a specific regulation that requires it, Sequencing.com does have a scientific review system for apps that are submitted to the platform. As Colby explained, "we have received some apps where people wanted to put them on our platform, but we have reject- ed them. The support was either not there or they were based on studies that were not very scientifically valid." Looking to the future, "what we are re- ally focusing on is this massive amount of data that's coming and finding the best ways to make sure that people can ob- tain value from that," said Colby. "Our app marketplace has 50 apps now, but we see having thousands of apps within the next few years. n monkeybusinessimages / Getty Images

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