Human Genome:  The Last Mile


Human Genome:  The Last Mile

Consumer Genomics Is Getting Ready For Mobile Experience

Contributed by Quibble Genomics cofounder Rao Mallik Kotamarti, PhD

February 3, 2016 

Dr Rao.pngThe study of the human genome has come a long way since its first successful sequencing 15 years ago at a cost in excess of a $1,000,000. The curiosity of knowing your own DNA even caught up with Apple’s founder, Steve Jobs, who paid $100K for sequencing. Since then, enthusiasts and researchers have responded to growing demand and are now making a personal genome available for a few hundred dollars. 

As with all technologies, quality has become the differentiator and a basic genome offers an inexpensive non-clinical peak at anyone’s DNA. While there is much debate over whether such marginally reliable information is helpful, as it could create unnecessary anxiety in individuals and families, the demand is strong as indicated by the growth of the consumer genomics industry.

These are interesting times. The Food and Drug Administration (FDA) is concerned about unreliable medical information alarming the public, which is rather puzzling in a country and a time when individuals are demanding the right to make their own judgments and evaluate their own risks. Imagine over-regulating the quality of cellular networks and phones when the digital cellular industry was just coming up to meet the rising demand for mobility 25 years ago. To this day, landline quality is superior to wireless voice. However, the public wanted cell phone service for the mobility it offered and was willing to compensate some voice quality for it. This eventually paid off as demand for cell service continued to surge. Equipment improved and voice quality issues are now generally a thing of the forgotten past. All this was possible because competition in the cell phone industry was allowed to improve while striving to win consumers with a new generation of technology.  

Experience magazine cover.pngSo, it is a just matter of time before a basic genome will be more than sufficient for many to get genetically profiled, determine any need for further targeted panel testing, and use their newfound knowledge to make better health and lifestyle choices.  Evolving subscription models with smart alerts will help consumers decide whether to pursue further testing and enable innovative healthcare providers to make earlier treatment choices. This is happening a lot quicker than most think, but now the problems have shifted to how this information is presented and kept up-to-date.

All of these genetic advancements are happening a lot quicker than most think but that has given rise to a problem of how the information is presented and kept up-to-date. If left alone, scientists will present your DNA as miles-long gene sequences in a format that would escape common comprehension.  Some simplicity has come about by exposing only those points along the sequences that are known to vary.  These are called SNPs (Single Nucleotide Proxy). Knowing your SNP could help you take control of your life. This is important news that is beginning to be widely disseminated in journals, magazines and online.

 Presenting the SNPs and Genes

Unfortunately, there are thousands of SNPs and presenting that data could overwhelm a user with information overload. My co-founder, Ram Mundla, and I have solved this presentation problem. Quibble Genomics does not hide the genes, and in fact encourages its users to explore genes like never before.

Gene illustration.png
A gene showing problem SNP areas in the digestive system of the subject; users can rotate the image, click to learn more about the SNP and get additional information.

Quibble Genomics chooses to show genes as interconnected spheres in 3D space highlighting the spheres hosting the SNPs. Even better, the highlighting corresponds to a health condition where green means the sphere has the indicator (SNP) and red means there could be an abnormality that needs further exploration and targeted testing.  We offer this as a mobile or a web app for a more engaging educational experience. 

National Institute of Health (NIH) hosts various Government databases to expose the SNP’s reliability or lack there of in predicting the presence or onset of a health condition and this information is updated daily as researchers around the globe submit results and curators process the latest discoveries.  Having real time access to up-to-date information is crucial for a genome user who is assimilating custom health information. Quibble Genomics' technology makes it easy by combining gene presentation with real time SNP analysis.

I am excited that Quibble Genomics offers this enlightening, innovative and real time last mile access to users’ own DNA. Taking charge of your own health and making the right health and lifestyle choices is the highest value I see Quibble Genomics providing to its users.