Technology that relies
on less DNA to more accurately sequence people's genomes has been unveiled by
a US biotech company.
In a paper in the
journal Nature, Complete Genomics outlines how its 'long fragment read' technology
produces few errors - one per 10 million DNA base-pairs,
or 600 errors in an entire human genome — while using less tissue than
previously required.
The technique is particularly relevant to non-invasive
genetic sequencing of fetuses, and could have applications for screening pre-implantation
embryos generated during IVF treatment. Furthermore, the technique enables separate
sequencing of both maternal and paternal chromosomes to determine the degree of
penetrance of genetic conditions.
Dr Rade Drmanac,
Complete Genomics' chief science officer, said that the Nature paper
demonstrated a 'ten-fold increase in accuracy' and that the technology
'is unmatched by any high-sensitivity method currently
available'.
The
company's shares closed up 44 percent on the day the technology was unveiled, with
nearly 9.4 million shares of its stock exchanging hands. This will come as
welcome news to the company which announced in June that it was laying off 55
staff after the company's net loss of $20.2 million in the first quarter of the
year.
Complete
Genomics has found it hard to compete with Illumina, which has emerged as the
clear front-runner in the burgeoning field of genomic sequencing. Added to this, the firm is currently defending two patent suits
filed against it by its rival.
Talking
to Forbes magazine, Complete Genomics' chief executive officer Clifford Reid admitted
that 'in
the research market our advantages are pretty limited. We have higher quality.
But in the research market that doesn't matter very much. Researchers can work
with lower quality data. That's really been a startling revelation to us that
despite the community saying quality is everything quality really isn't
everything'.
As a result, Complete Genomics has focused on
the prospective clinical market. The company's statement accompanying the
Nature paper includes a quote from George Church, professor of genetics at
Harvard Medical School, claiming that 'in the not-too-distant future, failure to
use [the kind of technology developed by Complete Genomics] when providing genomic
diagnoses in patient care will be seen as unacceptably inaccurate'.
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