Personal Genomics - Cost of Sequencing An Individual's Genome

Cost of Sequencing An Individual's Genome

The cost of sequencing a human genome is dropping rapidly, due to the continual development of new, faster, cheaper DNA sequencing technologies such as "next generation DNA sequencing".

The National Human Genome Research Institute, part of the U.S. National Institutes of Health, has set a target to be able to sequence a human-sized genome for US$100,000 by 2009 and US$1,000 by 2014.

There are 6 billion base pairs in the diploid human genome. Statistical analysis reveals that a coverage of approximately ten times is required to get coverage of both alleles in 90% human genome from 25 base-pair reads with shotgun sequencing. This means a total of 60 billion base pairs that must be sequenced. An Applied Biosystems SOLiD, Illumina or Helicos sequencing machine can sequence 2 to 10 billion base pairs in each $8,000 to $18,000 run. The purchase cost, personnel costs and data processing costs must also be taken into account. Sequencing a human genome cost approximately $300,000 in 2008.

In 2009, Complete Genomics of Mountain View announced that it would provide full genome sequencing for $5,000, from June 2009. This will only be available to institutions, not individuals.

Given the ethical concerns about presymptomatic genetic testing of minors, it is likely that personal genomics will first be applied to adults who can provide consent to undergo such testing.

In June 2009, Illumina announced the launch of its own Personal Full Genome Sequencing Service at a depth of 30X for $48,000 per genome. Only one year later, in 2010, they cut the price 60% to $19,500. Prices are expected to drop further over the next few years through economies of scale and increased competition.

Knome's whole genome sequencing approach aims, instead, to read every site in the whole euchromatic portion of a person's genome (roughly 3 billion sites). While significantly more expensive than SNP chip-based genotyping, this approach yields significantly more data, identifying both novel (never-before-seen) and known sequence variants, some of which may be particularly relevant in efforts to understand personal health, as well as ancestry.