digital health

The Role of Big Data Personalizing the Healthcare Experience: Genomics Part I


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, collecting, analyzing and turning data into useable information from different angles.

What is Genomics?

Genomics is the study of the complete genetic material (genome) of organisms.  The field includes intensive efforts to sequence the entire human DNA in order to map and analyze individual genes as well as their interactions.  The primary goal that drives these efforts is to understand the genetic basis of heritable traits, especially to understand how genes work in order to prevent or cure diseases.

Who Cares and Why: Genomics & Big Data

The amount of data being produced by sequencing, mapping and analyzing genomes, makes genomics a part 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, which is 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 multiply those further.

Genomics Fuels Personalized Medicine

Understanding each individual’s genome is a necessary foundation for predictive medicine, where a patient’s genetic data can be used 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 and save them not only the hassle of ineffective treatments but also money and time. The vision is to have treatments that will reflect an individual’s illness and not a one treatment fits all, as is too often true today.

Genomics Analysis Techniques

Three notable genomic start-ups have different approaches to turning genomic data into useable information that improves individual and population health.  Bina Technologies has created an information platform that allows users to take genomic sequence data, move it, and analyze it.  They use a hybrid architecture that keeps some data on the premises and some in the cloud, pushing computation back to where the data is, in order to reduce the data 1000 fold and speed up sequencing time and facilitating movement of the data.  Portable Genomics uses a mobile visualization platform for genomics that is related to the consumers well-known iTunes platform.  The visualization concept brings genomics to consumers and professionals in a very simple way, immediately understandable and useable in personalized and preventive medicine.  NextBio offers a platform that sits on top of existing systems to aggregate and analyze genomics data in terms of other relevant medical data.

These different approaches illustrate the current rapidly evolving ecosystem in genomics and personalized medicine. Bina illustrates the power of genomics to improve population health, Portable Genomics exemplifies bringing the power of information to the individual, and NextBio is the epitome of a one-stop shop, analyzing and aggregating large data from different streams to personalize individual treatments.

To learn more about these companies and the role they play in turning genomic data into personalized information and treatments, join us on Sept 18th at 10am PST for the Webinar Using Big Data to Personalize the Healthcare Experience.

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