Genomics are the Enabling Force Behind Precision Medicine

Categories: General

The current National Institute of Health Precision Medicine Initiative has the ability to transform the way we treat disease, while rapidly increasing the number of biomedical discoveries and treatment paths available. Precision medicine was made possible through cost effective genomic sequencing, maturity of big data, digitization of health records and development of a host of bioinformatic data scientists and methods. While precision medicine’s main focus is on individualized disease treatment, it includes a wide variety of use cases made possible by low cost ability to store hundreds of thousands and millions of patients’ data at a deep granularity. Clinicians can now target the needs of individual patients instead of relying on a “one size fits all” approach to treatments and therapies and this is made possible largely through the advances in genomics and big data.

While precision medicine has long been adopted by leading research hospitals, the timetable has been accelerated by the advances in both technology and genomics in recent years. This ability to combine medical advances with leading edge methods for managing and analyzing large data sets has set us on a path towards new biomedical discoveries that promise to revolutionize health sciences. Also critical to the success of the initiative is the need to maintain the privacy of individual patients’ health data while allowing it to be shared for comparative research to guide the development of targeted therapies for patients with genetic similarities. Because of this, data security is critical and must be part of the strategy in order to provide effective treatments while maintaining the privacy of patients. The advent of security requirements in the Health Insurance Portability and Accountability Act (HIPAA) as industry standard has moved the space forward. Everyone has a specific set of requirements, and Cloudera is deeply committed to enabling these quickly and with speed.

Precision medicine is still in its infancy. For the next generation we will be building out the chance for every entity, lab, physician, and organization to mix their annotations securely with data from the NIH PMI million patient cohort and other data. Cloudera has been fortunate enough to partner with more than a dozen leading organizations including pharmaceuticals, biotech, health systems and research labs. These institutions are currently at the cusp of knowledge-based drug discovery and translational development, as the benefits of precision medicine are just beginning to unfold. Both scientific and technological innovation are driving that change and healthcare organizations are using those advances to transform the lives of patients worldwide.

When talking about precision medicine, it’s important to understand the transformative powers of genome sequencing, a capability made possible and affordable by technologies like high performance computing at the upstream cleansing level, and Apache Hadoop and Apache Spark at the downstream, analytic level. Humans have approximately 180,000 protein coding exomes, which is only 1% of the entire human genome, and precision medicine relies on the ability to isolate and study anomalies across large numbers of patients. Even further, we commonly see practitioners going well beyond whole exomes and whole genomes, to work on RNA sequencing, proteomics, integrating laboratory information management systems, flow cytometry and others. All of this data, and longitudinal deep phenotypes or clinical information, can qualify and tune the findings in genomic research and translation.

This process and the resulting discoveries and treatments made possible through genomics are already changing the way we practice medicine, from having the ability to find the exact drug needed to treat a patient to discovering rate variants, diagnosing rare diseases, enabling drug target validation and much more. Genomic data is all around us and the industry is just now awakening to the opportunity that genomics presents. The pace of change we can anticipate over the next five to ten years, enabled by Hadoop, is staggering.

Cloudera and IDC recently meet to discuss the future of precision medicine. Click here to listen to the session.

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