model and plans to maintain this focus as they
pursue clinical applications. Jill Hagenkord, the
company’s chief medical officer, notes that such
thorough sequencing offers a powerful means
for identifying the types of structural rearrangements
that are abundant in cancer genomes
with a resolution unachievable with traditional
karyotypic methods. “It’s actually much more
informative and appealing than doing a targeted
resequencing for pathway analysis,” she says.
Several pilot academic efforts in this arena are
also looking to maximize their data collection in
the longer term. “Once we get turnaround times
and costs down, I would prefer a comprehensive
assessment to a focused one,” says Chinnaiyan.
Another important question is whether to
stop at the genome itself or to attempt to couple
that data with other ‘omic’ analyses. Given that
many cancer diagnostic tools now on the market
track shifts in gene expression, it is unsurprising
that many observers see transcriptomic analysis
as a valuable addition. Genomic Health of
Redwood City, California, has built a robust
business around its Oncotype DX family of
products, which use reverse transcriptase PCR
(RT-PCR) to profile shifts in the expression of
key genes linked with progression and risk of
recurrence for breast and colon cancer. The
company is now actively pursuing NGS-based
diagnostic solutions as well, but sees these as
complementing rather than replacing RT-PCR.
“We’re heavily invested in looking at both transcription
profiles and variations in somatic
sequence,” says CSO Joffre Baker.
MI-ONCOSEQ has made transcriptomics
a core component of their NGS workflow,
as has Alacris Theranostics, a Berlin-based
startup founded by Hans Lehrach, director of
the Department of Vertebrate Genomics at the
Max Planck Institute for Molecular Genetics.
“In tumor biology, the transcriptome is essential
information,” he says. “Tumors simply
select for eliminating brakes on growth and
don’t care whether that happens by deleting a
chromosomal region, acquiring a point mutation
in a gene exon or abnormal methylation of