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Diagnostics Genetics in Disease

Genome Sequencing in Less than an Hour

7 years, 3 months ago

17775  0
Posted on Feb 01, 2017, 6 a.m.

New sequencing machine will reportedly have the capability of sequencing an entire genome for less than $100, rather than the $1,000 it currently costs.

Illumina, a sequencing company, has debuted remarkable new machines, the NovaSeq 5000 and NovaSeq 6000, that one day will sequence an entire genome for the cost of under $100 and in fewer than 60 minutes as compared to the current one day. That $100 is only one-tenth the cost that was announced in 2014 by Illumina when it reached a milestone of a lower $1,000 per genome. Ten years ago, the cost was about $10 million.

When Illumina released their first machine in 2006, the cost was $300,000, but by last year, that price dropped to the above-stated $1,000. Previously, it had taken the Human Genome Project about $2.7 billion and 15 years to sequence the entire genome (minus only about one percent) from the DNA of a number of volunteers.

The human genome has an estimated 25,000 genes comprised of approximately three billion nucleotide base pairs. Affordable and quick sequencing will mean a revolution in the evaluation of human health and will enable far less costly and easier detection of rare diseases and link genetic variations with illness and health.

People are made up of extremely unique characteristics, so moving healthcare toward a more individualized approach will increase the knowledge and insight of known illnesses and allow for individually-tailored treatment options.

Although the NovaSeq does not yet have the capability of providing the stated inexpensive $100 sequencing, and the data generated in under an hour takes longer to be interpreted, once this technology is adopted, the price will drop and the necessary time for the analysis of helpful data will decrease.

The projections are promising and exciting. The major advancement in this technology will have outstanding implications in research and also for the average person. The dramatic reduction in the cost will provide faster progress in clinical research for cancer and other genetically linked diseases.

Also, companies such as AncestryDNA and 23andMe that use sequencing machines, often ones from Illumina, cater to those people who want to learn more about their individual genomes.

The machine is currently owned by only six customers including the Broad Institute of MIT and Harvard, the Chan Zuckerberg BioHub, Human Longevity Inc. and Regeneron.

Illumina is regarded as the primary manufacturer of DNA sequencers with its market value of over $20 billion. It is also San Diego County's largest publicly-traded biotech company.

There is indeed a bright future for such next-generation sequencing devices.

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