Up and Wait
OUTLOOK ON GENOMICS
Progress with the human genome may seem slow, but
research is yielding answers to long-held questions.
The race to sequence the first human genome was intense. The human genetic
code holds so many secrets, and
the promises to medical science
of uncovering those secrets
seemed like something out of
science fiction. Now, more than a
decade later, promises are being
delivered, though perhaps not as
spectacularly as once imagined.
One of the main areas of genomic
research right now is identifying
biomarkers, both to indicate risk
of specific diseases, and those
that predict how a sick person
will respond to a particular treatment.
Some diseases are monogenic,
or what the World Health Organization (WHO) calls “pure genetic
diseases.” Cystic fibrosis and
polycystic kidney disease are two
examples of monogenic diseases.
These conditions are caused by a
mutation in a single gene.
Utilizing genetic sequencing,
scientists compare healthy ge-
nomes with those of disease-rid-
den individuals and look for differ-
ences—an often time-consuming
process. Given the amount of in-
formation encoded in the genome
and the number of diseases that
exist, it’s easy to see why this
work takes so long and hasn’t yet
resulted in miracle cures. Ranjan
Perera, Scientific Director, Analyt-
ical Genomics and Bioinformatics
at Sanford Burnham Prebys, says
such sequencing can sometimes
be a “wild goose chase.”
Even so, the study of genetics
in this way has helped scientists
and doctors understand why
some children get certain dis-
eases and others do not, after
generations of not knowing.
Genetic sequencing can also
be used for and in clinical trials.
“Whenever a new drug comes
out, certain populations are going
to respond and certain populations won’t. We need to understand why,” Perera said.
One way to reach that understanding is to separate the responders from the non-respond-ers, then do genomic sequencing
and search for genetic common-alities and differences.
“This is a massive task. It’s
like a needle in the haystack.
You have to go deep to find the
actionable mutations,” Perera