Big Data Gaining Grounds In Precision Medicine Posted on : Nov 30 - 2017

As science continues to advance at unprecedented rates, new insights are being provided into the biology of cancer that prove disease is an expression of patient-specific genetic characteristics. In cancer, mutations – a change in DNA sequence, similar to a misspelling – occur in important genes, resulting in uncontrolled cell growth and proliferation. Each patient’s cancer has its own unique set of mutations. The current one-size-fits-all treatment paradigm fails to account for these unique set of mutations, resulting in low response rates. Precious time is lost while physicians progress through successive standard therapies with no prior guarantee of efficacy.

Precision medicine seeks to objectively analyze unique disease characteristics, such as genetics, to personalize therapeutic treatment for each patient’s set of mutations. It demands the reinvention of the design, testing, and prescription of treatments. Specifically, treatment design should be more effectively targeted, testing should be focused on likely responders, and prescription should be based on a match with an individual patient. By doing so, precision medicine offers the promise of averting unnecessary treatment, minimizing drug adverse events, and maximizing overall safety to ultimately maximize the efficacy and efficiency of the healthcare system. The ability to rapidly identify the most beneficial therapy for each patient will transform the healthcare experience.

Today’s technology is ushering in the age of Big Data. ‘Big Data’ – characterized by large volume, velocity, variety, and veracity of data – in healthcare is growing exponentially. Genetic sequencing technologies, such as next generation sequencing, have made the analysis of each patient’s mutations accessible, feasible, and increasingly commonplace. Non-invasive monitoring approaches enable the collection of patient data longitudinally across multiple time points. Additionally, there is an ongoing availability of new information on disease biology, with over 3 million publications available in PubMed for oncology alone.

To fully realize the potential of precision medicine, we must first “unlock” health Big Data. The inherent nature of Big Data presents many challenges in this endeavor. The average cancer contains hundreds of interrelated and dynamic mutations. It is impossible for the human brain to manually map and understand the implications of ongoing interactions between genes, multiple layers of biology, and drugs. Thus, we restrict our analysis to a mere scattering of available data points. Precision medicine use of genomic data, for example, is particularly constrained, utilizing a selection of mutations that represents less than a trillionth of a percent of the entire human genome. By forcing a reliance upon correlative rather than causal relationships that may be spurious or only account for negligible disease impact, the validity of genomic studies is compromised. Ultimately, the challenges of Big Data preclude the visualization of clear and concise clinical action that provides value to the patient, physician, and healthcare system. View More