evotec_Nov23_PanOmicsDriven - 22

The PanHunter Platform
approaches, or even more holistic systems biology
approaches, in medical research. These technologies
are also facilitating the development of precision
medicine applications while hastening the translation
of precision medicine to the clinic.
" In the 1980s, even sequencing a small plasmid
was a major undertaking, " said David I. Smith, PhD,
professor emeritus at the Mayo Clinic. " Advances in
Sanger sequencing brought down sequencing costs
dramatically. In 1999, a draft sequence of the human
genome cost about $3 billion. Soon, sequencing
will cost as little as $100 per genome. It's absolutely
phenomenal. "
Smith's research into human papillomavirus
(HPV) has used whole genome sequencing to study
different mechanisms of HPV-linked cancers. He has
also demonstrated how the sequencing of clinical
specimens from cancer patients can expand treatment
options.
Smith credited massively parallel sequencing
with bringing down the cost of whole genome
sequencing to an affordable range. This method has
increased sequencing output by multiple orders
of magnitude. Today, one can generate enough
sequencing for a single genome on Illumina
NextSeq instruments for just $375. However, this is
just the sequencing cost.
" Technology is developing faster than ever, "
Smith added. " Last year, BGI in China stated that
soon it will cost only $100 to sequence a complete
human genome! The reality is that a personalized
medicine approach, based upon genomics and whole
genome sequencing, is going to change the world. "
APPLICATIONS IN DEGENERATIVE DISEASE
In disease areas such as cancer, precision
medicine applications already exist. Examples
include precision diagnostics and checkpoint immunotherapy.
However, in other disease areas, precision
medicine applications are still emerging. For
example, in the degenerative disease osteoarthritis
(OA), researchers are still trying to identify specific
biomarkers, that is, biomarkers that could allow OA
to be easily and cost-effectively diagnosed.
OA affects patients' joints and causes symptomatic
patients to experience pain while walking. It is
the most common joint disease in the United States
with a prevalence of 10% in men and 13% in women
over 60 years old.
A variety of clinical assessments are used for
diagnosis, including radiographs, MRI scans, and
pain scores. End-stage treatment is joint replacement
with a metal implant, which is a successful
yet expensive and invasive procedure that might
not be necessary for all patients. To better gauge
the need for joint replacement, precision medicine
approaches are being developed.
" OA is a very heterogenous disease, in terms
of how it develops and how it progresses, " said
Guangju Zhai, PhD, professor of genetics at the
Memorial University of Newfoundland. " The biggest
challenges for classifying OA include predicting
disease progression and developing effective therapeutics. "
Over
a number of years, many research groups
around the world have tried to identify biomarkers
for the early diagnosis or prediction of OA. Zhai's
22
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evotec_Nov23_PanOmicsDriven

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