digital health

Big Data and Genomics: Baby Steps

In the future, patients may no longer have to wait for the right diagnosis because scientists have decreased the time and cost of sequencing the human genome – the time has decreased from nine months in 2000 to 24 hours today, and also the cost has decreased from about $95 million in 2001 to $7950 in 2012.

What is Genomics?

Genomics is the study of genomes and organisms.  The field includes intensive efforts to determine the entire DNA sequence of an organism including fine-scale genetic mapping which looks for the interaction between genomes.

Relation to Big Data

The field of genomics generates and analyzes large volumes of data – each human genome has 20,000-25,000 genes, which are comprised of 3 million base pairs.  The shear amount of data being produced, along with the data analysis involved in analyzing the gene sequence makes genomics a part of Big Data.  To read more about the role of genomics in the Big Data ecosystem see my paper “Big Data in Healthcare: Hype and Hope”.

Who is Doing This?

There are a number of start-up companies, governmental organizations, and universities all working to utilize the genome to improve healthcare in the United States.  Fierce IT discusses many partnerships between private companies and universities in the “Arms Race to Cure Cancer”.

Future of Genomics

The cost to sequence the genome has decreased from $2 million in 2007 to $7,000 today.  The goal is to get the cost of genome sequencing under $1,000 USD or even $500, to make it affordable and an instrumental part of healthcare.

Harvard physicist David Weitz has predicted that he can do it even cheaper – for just $30 USD.  Using microfluidics technology, Weitz and his team are working on accomplishing this feat.

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As we anticipate a decrease in the time and cost of sequencing the human genome, do you wonder what scientists are going to do with the information that they uncover in individual’s genomes?

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