BREAKTHROUGH: Map Your DNA for $1,000

Posted by Mike Tirone - Wednesday, January 11th, 2012

Visiting the doctor for a medical check up doesn't excite many people. Throughout our lives we will continue to receive medical treatment, and along with the financial burden, the outstanding amount of discomfort of being poked and prodded, and the paranoia of being diagnosed with health-threatening illness or disease, we will continue to make the trip to our physician's office.

These are reasons most of us dislike general health examinations.

Well that all may change within the year. A single procedure may change the frequency of our health examinations, our preventive medicine intake, and the heavy financial weight for sustaining proper health.

By 2013, you will be able to receive a genomic sequencing of your DNA, at the same cost of typical MRI. You'll essentially be able to trace your individual history and biology within your genetic makeup, a so-called crystal ball for your health.

This modern research will change everything. Life Technologies Corp.(NASDAQ: LIFE), a California-based genomics company, will introduce a machine, today, that will develop personalized medicine for an individual's entire genetic makeup, for only $1,000.

Even more shocking is that the machine and its accompanying microchip technology, which maps all three billion units of your DNA that makes up your human genetic code, will deliver the information in just 24 hours.

Life Technologies calls the machine and chip the Ion Torrent unit, and if it can live up to their claim, it would be the first company, among many rivals, to produce a $1,000 gene map. Currently, the cheapest sequencing is three times the price and takes seven times the length of time to produce the map.

But you may ask what does it all matter? Why should I care about the mapping of something that is so incomparably small within my body? The answer is: it is revolutionary to your health.

Look at it this way, in 2010, 82.2% of American adults had contacted their health care professional for, on average, a general medical examination. While the number of visits to the physician's office was at a steep 956 million. Mapping your entire human genome can speed up or improve disease diagnosis while also helping in developing more medical treatments targeted to patients with a specific genetic makeup.

Just like your investments, preparation and awareness are crucial to being successful in the financial world. This goes for your health as well. By being aware of your genomic information, you'll have the ability to understand the risk for a common disease and have the incredible fortune to predict how you may react to a particular medicine or environmental exposures, for example radiation from medical tests or simply allergies.

According to many scientists, breaking the $1,000 barrier for the mapping will speed up an already fast-moving shift in genetic discovery and drug development. Life Technologies' announcement of the Ion Torrent device is monumental, but skeptics do site challenging times for sequencing companies despite great progress in technology as restraints in government and academic research budgets grow. Along with that comes the struggling economy and it's dampening sales of big-ticket sequencers.

Aside from the significant price drops seen over the years (see graphic below), the genomic sequencers have been pushing pharmaceutical labs to more research and development to work with these new maps and alterations to understanding human health.

(click to enlarge)

genome mapping sequence

From Wall Street Journal,

Some experts believe a person's genetic code eventually will be used routinely to guide prevention and treatment of illnesses throughout life.

Drug companies increasingly are identifying gene variants that they can target with drugs. And geneticists are identifying more and more diseases that result from a mutation in just one gene.

Imagine having your genetic makeup mapped out at a young age. Early in your life you'll learn about health risks to your specific mapping, such as early-on heart attacks or aneurysms. Therefore it will allow you to take preventive drugs or simply monitor your health more carefully and frequently.

Whole-genome sequencing—as opposed to identifying just a subset of genes suspected of being linked to an illness—allows scientists to look broadly across all genes for mutations that are associated with diseases...

With single-gene conditions such as sickle-cell disease, sequencing the whole genome could be useful in identifying "modifier" genes that work with the primary mutation to make a disease more or less severe.

In 2003, with the completion of the Human Genome Project – the first ever mapping of the human genome – caused mass excitement yet expectations that new drugs would sweep through the pharmaceutical labs and cure our ailing world immediately. Granted nearly a decade ago, the process has moved quickly in terms of cost and duration of genomic mapping. Then it was to cost upwards of $60 million for sequencing per genome and the duration was to be incredibly long.

An initiative launched by the U.S. government's National Human Genome Research Institute in 2004 accelerated research which has resulted in a massive cost reduction in sequencing.

“We can sequence the genome for dirt cheap,” the director of the NHGRI, Eric Green, says. “But we don't know how to deal with the data. We've got to work on that.”

In 2011, the cost of sequencing an entire human genome was around $10,000, but currently machines marketed by Illumina Inc. (NASDAQ: ILMN) of San Diego are giving Life Technologies strong competition. Being the market leader in sequencing devices, Illumina can decode an entire genome in around a week for about $3,000. But Jeff Schloss, program director and technology expert at NHGRI, says there is technology in the wings that have newer approaches to the sequencing and could help drop the price to as low as $100.

Today, though, only an estimated 1,800 whole genomes have been sequenced using this high-quality technology, but with the rapidly dropping prices, the new Ion Torrent device, and the stiff competition, we could see a massive change in health care in 2012. One that will be much efficient and cheaper for every person.

The Ion Torrent will be unveiled today at the annual J.P. Morgan Healthcare conference and will cost $149,000.


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