$1,000 Genome will improve health, lower healthcare costs

Last year, the going cost to get one’s genome sequenced was about $10,000. Now it will be closer to one grand.  Illumina, a publicly traded biotech company that specializes in the gene-sequencing machine market, has succeeded in reducing genomic analysis costs by a factor of ten.

Through continuous innovation, Illumina technology has broken down barriers in human genome sequencing by increasing data throughput by an astounding rate.  The result has been dramatic price reduction, ushering in the age of the “$1,000 genome”.

The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of full genome sequencing for an individual or patient costs roughly US$1,000. The “$1,000 genome” catchphrase was first publicly recorded in December 2001 at a scientific retreat to discuss the future of biomedical research at the launch of the Human Genome Project, an international scientific research project that had the goal of determining the sequence of chemical base pairs which make up human DNA, and of identifying and mapping the total genes of the human genome from both a physical and functional standpoint.

The phrase neatly highlighted the chasm between the actual cost of the project, estimated at $2.7 billion over a decade, and the benchmark for routine, affordable personal genome sequencing.

2006 article in Scientific American making the case for a personal genome project stated that: “The ‘$1,000 genome’ has become shorthand for the promise of DNA-sequencing capability made so affordable that individuals might think the once-in-a-lifetime expenditure to have a full personal genome sequence read to a disk for doctors to reference is worthwhile.”

In less than a decade after that statement, Illumina was able to launch its HiSeq X Ten Sequencer, in effect a million dollar supercomputer, which can deliver the first $1,000 genome at 30x coverage. Reportedly, when used at scale, the HiSeq X Ten Sequencer delivers a $1,000 genome, inclusive of instrument depreciation, sequencing consumables, DNA extraction, library preparation, and estimated labor, typical of a high-throughput genomic laboratory.  The ultimate result of this innovation is that genomic sequencing can finally be used for mainstream medicine.

Researchers will be able sequence thousands of people, in order to create more accurate data sets to determine the cause of rare diseases and analyze cancers.  While the first human genome sequencing required US$3 billion and 13 years, the $1,000 HiSeq X Ten process only requires a day. As a consequence, it is now possible to take a blood test and have a complete and accurate genetic analysis available in under a week.

Accuracy is important, as personal genetic testing in the recent past has been characterized by a tremendous amount of uncertainty.  Indeed, a recent article in the New York Times demonstrated that many “direct-to-consumer” genetic testing services available on the market today do not offer high levels of accuracy.

NYT correspondent Kira Peikoff profiled her experience of ordering three genetic tests from 23andme, Genetic Testing Laboratories,  and Pathway Genomics. These companies in the past have provided individuals with reports about disease risk based on their genes.  While such genetic testing and genomic medicine, in general, have proved their worth in the improvement of personal and public health, Kira Peikoff’s experience demonstrated that tests results from all three companies provided widely varied results.  As an example, 23andme found that she had an elevated risk of psoriasis, while Genetic Testing Laboratories found an extremely low lifetime risk.  23andme and GTL also varied in Peikoff’s risk assessment for Type 2 diabetes.

Such variations obviously show that consistent quality and reporting standards are key to the success of such services. Indeed, 23andme was recently admonished by the U.S. Food and Drug Administration for marketing disease risk genetic analysis services without approval.

We can expect however that as the industry matures, cost will plummet due to “$1,000 genome” technology and that growing databases will allow for robust analyses, allowing both consumers and patients to benefit from having consistent, reliable and actionable genomic information to keep us collectively healthier and reduce healthcare costs.

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