Thursday, April 14, 2016

When Biological Science Meets Big Data Science

     Over the last 20 years, talking points around the subject of genomics and personalized medicine have become topics that could revolutionize the way that healthcare providers and other specialized fields handle therapy for patients. In 2007, President Barack Obama introduced a bill to the U.S. Senate titled The Genomics and Personalized Medicine Act of 2007 which sought to secure the promise of personalized medicine for all Americans by expanding and accelerating genomics research and initiatives to improve the accuracy of disease diagnosis, increase the safety of prescription drugs, and identify novel treatments. Buzzwords like bio-banking, genetic testing, and whole genome sequencing hover around this document, bringing mixed thoughts on the issue among the public. The ethics of informed consent upon request of genomic information and what information is to be divulged to the patient upon request can be a difficult issue to de-convolute.  
     The ability to incorporate genomic information to therapy management for individualized care comes from the idea that two individual patients can have entirely different responses to the same drug, and based on the variations in genetic characteristics and biomarkers that result from these variations, it may be possible to predict and prevent serious adverse events for high risk medications. Cutting post-ADR costs at the emergency room can have huge implications to lowering health care spending from a preventive perspective.
     Recently, Xconomy,business and technolgy giant out located in Boston, MA, organized a Forum named Big Data Meets Big Biology in San Diego, hosting experts in fields such as genomics (Stephen Kingsmore, President and CEO, Rady Pediatric Genomics and Systems Medicine Institute), human biology (Nicholas Schork, Professor and Director of Human Biology, J. Craig Venter Institute), and many more to discuss the future challenges of next-generation genome sequencing and how a coordinated systems approach is needed to make steady progress in bringing these technologies to the utilization of the patient. One very interesting quote from Illumina CEO Francis deSouza during that forum was that " the data required by Netflix for all of its digital movies, television series, and other online programs is roughly equivalent to 200,000 human genomes. The centerpiece of a U.S. “precision medicine” initiative announced last year is a population-scale study of 1 million American individuals and their genomes." 
     Currently it is possible to sequence the full genome of a patient for approximately $1000, where it used to be $3 billion for just one patient 15 years ago. I feel that with this trend towards finding more cost-efficient strategies to provide genomic information that can belong to the consumers in healthcare, hopefully this can not only build a road to more cost-effective therapies, but also put the control of individual care into the hands of the patient as they can physically own their own genomic results in a portable way that can be utilized by healthcare providers from numerous fields.




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