Your Genome’s On An iPhone (trying to call home…)
Ten years after the completion of the human genome project, competition between 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 questionsyou’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’s MiSEQ 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.
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