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Genomics and the Role of Big Data in Personalizing the Healthcare Experience

Genomics is making headlines in both academia and the celebrity world. With intense media coverage of Angelina Jolie’s recent double mastectomy after genetic tests revealed that she was predisposed to breast cancer, genetic testing and genomics have been propelled to the front of many more minds.

In this new data field, companies are approaching the collection, analysis, and turning of data into usable information from a variety of angles.

What is Genomics?

Genomics is the study of the complete genetic material (genome) of organisms.  The field includes sequencing, mapping, and analyzing a wide range of RNA and DNA codes, from viruses and mitochondria to many species across the kingdoms of life. Most pertinent here are intensive efforts to determine the entire DNA sequence of many individual humans in order to map and analyze individual genes and alleles as well as their interactions. The primary goal that drives these efforts is to understand the genetic basis of heritable traits, and especially to understand how genes work in order to prevent or cure diseases.

The amount of data being produced by sequencing, mapping, and analyzing genomes propels genomics into the realm of Big Data. Genomics produces huge volumes of data; each human genome has 20,000-25,000 genes comprised of 3 million base pairs. This amounts to 100 gigabytes of data, equivalent to 102,400 photos. Sequencing multiple human genomes would quickly add up to hundreds of petabytes of data, and the data created by analysis of gene interactions multiplies those further.

Forces driving data analysis of genomics

Genomics Fuels Personalized Medicine

Personal genomics–understanding each individual’s genome–is a necessary foundation for predictive medicine, which draws on a patient’s genetic data to determine the most appropriate treatments. Medicine should accommodate people of different shapes and sizes. By combining sequenced genomic data with other medical data, physicians and researchers can get a better picture of disease in an individual. The vision is that treatments will reflect an individual’s illness, and not be a one treatment fits all, as is too often true today.

Suggested Reading: Genetics and Genomics in Medicine

Source: http://radar.oreilly.com/2013/08/genomics-and-the-role-of-big-data-in-personalizing-the-healthcare-experience.html