2007: The Year of the Personalized Genomics

Reading time: 2 – 4 minutes

George Weinstock, co-director of the Human Genome Sequencing Center at Baylor College of Medicine, wrote a short, interesting article posted to MIT’s Tech Review, contemplating whether this year may be remembered as the year of the personalized genome.

In April, two companies, 454 Life Sciences and Illumina, announced plans to sequence individual human genomes. While genotyping tests have been used for decades to sequence single genes, DNA sequencing has never been done on the entire genome of a single person.

Weinstock writes:

“Whereas the DNA sequence produced by the Human Genome Project in 2003 was a mosaic drawn from a number of different human genomes, the efforts by 454 Life Sciences and Illumina, which could be completed in the next few months, will be the first sequences of individual genomes. As such, they herald the era of “personalized genomics.” An individual genome sequence shows the particular combination of genetic variants in an individual’s DNA, allowing scientists to explore the relationship between a person’s genotype and his or her biological traits.”

The National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers at the National Institutes of Health (NIH), awarded more than $38 million dollars in 2004 to eleven groups devoted to the development of near term technologies that would allow the sequencing of a mammalian-sized genome for $100,000 and to seven groups challenged with the development of longer-term technologies that would allow sequencing for $1,000 per genome [1].

The first genome ever sequenced was the viral genome of bacteriophage MS2 in 1976 [2], consisting of 3569 base pairs of DNA. In comparison, the human genome is over a three-quarter of a million times larger at approximately three billion (3×10⁹) base pairs.

When it arrives, personalized genomic diagnosis, as part of routine medical care, will provide doctors with a highly accurate means to predict disease, prevent illness and personalize treatment. The personalized genome will truly individualize health management.

References

1. NHGRI seeks next generation of sequencing technologies. EurekAlert. 2004 Oct 14.
2. Fiers et al. Complete nucleotide sequence of bacteriophage MS2 RNA: primary and secondary structure of the replicase gene. Nature. 1976 Apr 8;260(5551):500-7.
   View abstract