Monday, 2 April 2012

The $1,000 Genome, Soon to Be a Reality

By Paul Cameron

How we look, act, behave and beyond – all of these traits can be chalked up to our own personal code. Consisting of some 3 billion base pairs, the tricky part is figuring out what order they all fall in. [1]

Starting with tedious RNA sequencing, we have come a long way over the last 40 years. The human genome, the first completely sequenced in 2003, cost the US taxpayers $2.7 billion. [2] By the end of 2012, the goal is to be under $1,000, and to be available to anyone and everyone, if you have the cash that is.

Fig. 1. - The Personal Genome Machine (PGM),  
by Ion Torrent
Now, to put this into context, prior to 2007, personal genome sequencing was used exclusively for research purposes, and the overly wealth. As of 2011, a company called Illumina offers full human genometric sequencing for $5,000. [3] With DNA sequencing moving towards privatisation, the accessibility for the public is increasing ever-rapidly.

From these early roots, we have come to a point in which we can analyse whole genes to find abnormalities within them. We are also approaching a point in which the sequencing of the human genome will be commonplace. The Personal Genome Machine, or PGM for short, was introduced very late in 2010 by a company called Ion Torrent, and served as the first scalable bench top sequencer. [4] The PGM was able to sequence a genome in 8 hours.


Fig. 2. - The Ion Proton Sequencer, by Ion Torrent

The Ion Proton Sequencer, or IPS, the next step by Ion Torrent, has proved to be the innovative leap towards finally reaching the “$1,000 genome” goal. Using 1.2 million wells of semiconductors, the Ion 314 chip, which is what the IPS uses to chemically sequence, utilizes all natural nucleotides to analyse the protons produced in DNA polymerase synthesis. [5] The Ion 316, and the Ion 318 – set to be released mid-2012 and late 2012 respectively – will see a hundredfold increase in throughput within a single year. [4] A more all-encompassing article can be found here:

Fig. 3. - The 1 Gb Ion 318,
by Ion Torrent
The chips I’m speaking of use these semiconductors the same way in which your camera phone does. Speaking technologically, the co-founder of Intel, Dr G. Moore, has said “[That] [t]he number of transistors that can be placed inexpensively on an integrated circuit doubles approximately every two years.” [5] Much in the same way that cellular technology has progressed in the last century, the same has occurred within the world of genometric sequencing.

The crossing of this chemical and digital divide spells a bright future for medical practitioners. In some 20-years-time, when DNA sequences have been researched further, we will have the ability to design tailor-made programs for rehabilitation and recovery from diseases, and even to the point where we may be able to prevent these diseases from ever taking hold.

While the Ion Proton Sequencer spells the future for what genometric sequencing will come to be, the Personal Genome Machine set the bar for ease of access by its bench top sequencing capability.

Reference List:

[1] Human Genome Project 2008, The Science Behind the Human Genome Project – Basic Genetics, Genome Draft Sequence, and Post-Genome Science, viewed 18 March, 2012, <>.

[2] National Human Genome Research Institute – (National Institute of Health) 2010, Human Genome Project Completion: Frequently Asked Questions, viewed 18 March, 2012, .
[3] Bio-IT World Staff, May 9, 2011, Illumina Announces $5,000 Genome Pricing, viewed 18 March, 2012<>.

[3] Bio-IT World Staff, May 9, 2011, Illumina Announces $5,000 Genome Pricing, viewed 18 March, 2012, <>.

[4] Carlsbad, C, 11 July, 2011, Ion Torrent Delivers Tenfold Higher Throughput, Faster Workflow and Now Ion 314 Chip for Just $99 -- All in First Six Months, viewed 18 March, 2012, <>

[5] Sinnige, J, 25 July, 2011, The Ion Personal Genome Machine (PGM) Expands Moore’s Law, Thanks to Moore, viewed 18 March, 2012, <>

Figures List:

Fig. 1. - Author Unknown, Personal Genome Machine, image, accessed 18 March, 2012, <>.

Fig. 2. - Author Unknown, Ion Proton Sequencer, image, accessed 18 March, 2012, <>.

Fig. 3. - Author Unknown, 1 Gb Ion 318, image, accessed 18 March, 2012, <>.

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