genomeA new medical breakthrough has arrived with a genome machine that makes genetic sequencing affordable. As recently as a year ago, it cost approximately $10,000 to have your genome sequenced. In January 2014, The HiSeq X was introduced by Illumina. It is a machine that can now perform genome sequencing for around a $1,000. This is a milestone, making sequencing available for hundreds of thousands of people who need the test but could not afford it. As well, now that the cost for sequencing is nearing that of a Full Body MRI or CT Scan, the wellness and prevention market will see additional growth.
20 years ago, the first human genome sequencing took 13 years and cost $3 billion. Now, for $1,000, you can submit a swab sample and have genome sequencing results in just 24 hours. More complex or targeted results may take up to two weeks. Affordable sequencing means early diagnosis in infants of diseases like cystic fibrosis and muscular dystrophy. Hereditary diseases and abnormal fetal chromosome disorders that can be discovered by genome sequencing are going to soon make the need for amniocentesis obsolete.
Some of the benefits of affordable and speedy genome sequencing include:

  • Instead of general cancer treatment, particularly in colon cancer, tumor properties are determined and treatment is pinpointed to what is most effective on the particular tumor that is involved.
  • Triggers for conditions such as strokes and Alzheimer’s disease may be isolated.
  • Susceptibility to different types of cancer, like colon or breast cancer can be identified.
  • It can determine if a person is a carrier of any hereditary disease.
  • Sequencing can discover if a person is predisposed to a condition or disease so that preventive measures can be taken and early treatment initiated.

Genome sequencing can even determine if a person is predisposed to develop macular degeneration. If so, they are advised to take precautions and avoid exposing their eyes to the sun. It can determine if a person has a resistance to a certain medication or vulnerable to succumbing to the risks of anesthesia. There seems to be no end to its capabilities.
Investors are lining up to buy stock in Illumina. It is estimated that of all sequencing that has ever been done, about 90% has been on Illumina machines, and the company is expected to continue to manufacture more cost effective and efficient genome sequencing machines.
About the size of a large free-standing photocopying machine, the HiSeq X costs $1 million and are sold 10 at a time. This works for some hospitals and research centers, but the company also has a NextSeq 500 which is smaller, performs a single test at a time, and costs about one-quarter of the HiSeq X. It can be purchased by smaller hospitals and other types of medical testing businesses.
Competitors to Illumina are appearing on the horizon, but it seems as if they have a long way to go before they can catch up with the dominance of the two Illumina machines. These machines are not a dream for the future, but are products that are actually in use and more machines are being shipped daily. Meanwhile, the company is exploring uses of genome sequencing outside the medical arena. One possibility is for police officers to use it in identifying suspects. The more technological advances that are made, the cheaper the sequencing will become and the more the general public will be able to benefit from sequencing.
Doctors today routinely order full blood panel work ups, but by this time next year, early adopting physicians may have a desktop genome sequencer in their office, and with the specialized understanding of how to interpret DNA test results, they will be able to provide life saving information and treatment to their patients.
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Last Updated on June 16, 2014