IT impact on DNA sequencing
The mystery behind why some have a genetic disposition to a certain disease, or why a medicine works for some and not for others, might be revealed sooner than many had anticipated. Several significant breakthroughs in DNA sequencing technology have been made, giving hope that the coveted $1,000 genome is just around the corner.
Since the completion of the Human Genome Project in 2003, which took over a decade and cost over $300 million, the idea of personalized medicine and using genetic testing for medical procedures has become much more of a reality. Decoding a human genome is far too costly, and, as a result, several companies are in a race to develop the next-generation DNA sequencer that will drive down the costs of sequencing a person's genome to $1,000, and to win the $10 million Archon X Prize, which is awarded to the company that successfully sequences 100 human genomes in 10 days for $10,000 per genome.
In February 2008, Illumina claimed to sequence a human genome in four weeks for $100,000, only to be outdone five weeks later by its competitor, Applied Biosystems (ABI), which announced the sequencing of a whole human genome for less than $60,000. ABI also mentioned that its next-generation DNA sequencer is capable of generating up to nine gigabases per run, which is the highest throughput reported to date.
Also in February 2008, Pacific Biosciences (PacBio) presented a revolutionary technology which, within five years, could produce a three-minute raw sequence, and a complete, high-quality sequence in 15 minutes - all for under $1,000. PacBio plans to introduce a sequencing machine in 2010, but an instrument capable of performing the $1,000 whole genome sequencing will not be available until 2013.
The rapid advancement of next-generation DNA sequencers has been possible due to vast improvements in computer technology, specifically in speed and size. These new systems produce enormous amounts of data - one run could generate close to one terabyte of data - and bioinformatics and data management tools have to play catch-up to handle the analysis and storage of this data.
The $1,000 genome has the potential to bring the genomic age to the physician's office. At this price tag, DNA sequencing could become common for certain medical procedures - such as testing for cancer and developing treatments specifically for the patient and, one day, routine decoding at birth could provide parents with a genetic instruction guide to their children's future ailments.
However, this concept of genome sequencing as a standard medical procedure raises several privacy issues, as there is nothing more personal than genetic code. Important questions raised will include who should have access to this information, and how easily attainable would this data be for others? For example, should only the patient and physician share this knowledge, or should health insurance companies be privy to this valuable genome report?
Technology vendors will have to work with the healthcare and medical industries to establish the answers to these questions and then develop the appropriate security protocols. Healthcare and life science IT vendors should utilize the expertise of other industries, such as the banking and credit card industry, which also require high levels of security in their day-to-day workflow to aid in the development of software to ensure patient privacy.
Since the completion of the Human Genome Project in 2003, which took over a decade and cost over $300 million, the idea of personalized medicine and using genetic testing for medical procedures has become much more of a reality. Decoding a human genome is far too costly, and, as a result, several companies are in a race to develop the next-generation DNA sequencer that will drive down the costs of sequencing a person's genome to $1,000, and to win the $10 million Archon X Prize, which is awarded to the company that successfully sequences 100 human genomes in 10 days for $10,000 per genome.
In February 2008, Illumina claimed to sequence a human genome in four weeks for $100,000, only to be outdone five weeks later by its competitor, Applied Biosystems (ABI), which announced the sequencing of a whole human genome for less than $60,000. ABI also mentioned that its next-generation DNA sequencer is capable of generating up to nine gigabases per run, which is the highest throughput reported to date.
Also in February 2008, Pacific Biosciences (PacBio) presented a revolutionary technology which, within five years, could produce a three-minute raw sequence, and a complete, high-quality sequence in 15 minutes - all for under $1,000. PacBio plans to introduce a sequencing machine in 2010, but an instrument capable of performing the $1,000 whole genome sequencing will not be available until 2013.
The rapid advancement of next-generation DNA sequencers has been possible due to vast improvements in computer technology, specifically in speed and size. These new systems produce enormous amounts of data - one run could generate close to one terabyte of data - and bioinformatics and data management tools have to play catch-up to handle the analysis and storage of this data.
The $1,000 genome has the potential to bring the genomic age to the physician's office. At this price tag, DNA sequencing could become common for certain medical procedures - such as testing for cancer and developing treatments specifically for the patient and, one day, routine decoding at birth could provide parents with a genetic instruction guide to their children's future ailments.
However, this concept of genome sequencing as a standard medical procedure raises several privacy issues, as there is nothing more personal than genetic code. Important questions raised will include who should have access to this information, and how easily attainable would this data be for others? For example, should only the patient and physician share this knowledge, or should health insurance companies be privy to this valuable genome report?
Technology vendors will have to work with the healthcare and medical industries to establish the answers to these questions and then develop the appropriate security protocols. Healthcare and life science IT vendors should utilize the expertise of other industries, such as the banking and credit card industry, which also require high levels of security in their day-to-day workflow to aid in the development of software to ensure patient privacy.
posted by gwg at 12:01 PM
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