Your Genome's On An iPhone (trying to call home...)
By Jim Golden
Ten years after the completion of the human genome project, competitionbetween instrument makers and attempts to capture medical value from DNA sequence data continue to make the news. My life science and healthcare clients are continuing to look for innovative and practical ways to integrate genomic data with clinical records to identify new approaches for treating patients. From a big data and life sciences standpoint, the issue of which device and analytics platform will win the marketing war is interesting. However, the issue of what clinical questions you’re going to answer and how you answer them is more pressing for advancing healthcare.
In an August Forbes blog post, science writer Matthew Herper reminds us that Illumina is still the dominant force in DNA sequencing. I recently spoke with CEO Jay Flatley to get a better understanding of how Illumina’sMiSEQ desktop device is being used to enable a platform for advancing patient care, not to mention generating a whole lot of biological big data. Illumina’s goal is to create a true platform - pursuing a genomic services strategy with the patient-treating physician at the center. The Individual Genome Sequencing (IGS) services platform was developed to advance consumer genomics through a physician intermediary, in a certified clinical environment, where DNA sequencing is the key to understanding a patient’s response to any given treatment. A cancer patient needs a prescription to access this service and the results are shared only directly with the treating physician. IGS provides DNA sequencing for tumor and normal tissue pairs, which is key to understanding genetic changes in cancer cells, but does not share the data with the patient or provide an interpretation of the results. The IGS service provides rapid, whole genome sequencing with 30 fold coverage to ensure accuracy, directly to the treating physician’s iPad or iPhone. Included with the IGS app is a reference genome and informatics tools for identifying structural variations within a tumor gene or unusual regions identified in the patient’s genome. It is then up to the healthcare provider - geneticist, physician, or pathologist - to translate that information into a standard of care for the patient and deliver optimal treatment. It’s interesting to think about the future impact for insurance companies who will now need to understand how these kinds of data can be used to demonstrate economic benefit for this service when designing reimbursement policies.
Services like IGS not only have the potential to change healthcare delivery, but can be a catalyst for shaking up existing life science business models. After talking with Illumina’s CEO, I spoke with Jimmy Lin of the Rare Genomics Institute about his innovative approach to patient-centricity in treating rare diseases. Dr. Lin has created a crowd sourcing model where patients and their families can raise funds through social networking, use those funds to sequence a genome using services such as IGS, partner with geneticists willing to help interpret the results, and then make the case to pharmaceutical companies to pursue novel treatments based on solid biological data. In essence, the Rare Genomics Institute is a virtual biotech company – patients and families raise the funds (IGS charges roughly $9500 for a whole genome), quickly generate a DNA sequence library, work with volunteer physicians and researchers to identify genetic regions unique to their disease, and present that data to patient advocacy groups and interested biopharmaceutical companies to pursue treatments. The Rare Genomics Institute acts as the project management office and organizers of this unique and virtual process. This model, enabled by advances in technology, hits all the right buttons for changing healthcare – patient-centric, innovative, collaborative and economical.
Pharmaceutical companies have begun aggressively investing in resources and technologies for their own rare disease programs in an effort to advance understanding of disease biology. Jimmy Lin’s group, partnered with technology innovators like Illumina, may have figured out how to do it faster and cheaper.