Clinical OMICs - Volume 3, Issue 9 - 24
Clinical OMICs TUTORIAL
Streamlined
Genomic Sample Collection
Speeds Clinical Studies
Bob Terbrueggen
O
btaining patient samples for the
development and validation of
new genomic tests is the greatest
single barrier to the wide-scale implementation of precision medicine.
Precision medicine, evidence
based medicine, and personalized
medicine all describe the concept
of using molecular diagnostic and
other patient specific information to
determine the optimal treatment for
a patient. While precision medicine
looks to harness a wide array of health
and lifestyle information, much of the
growing excitement is being fueled
by advances in technologies that
make in-depth characterization of
an individual's genome possible for
less than $3,000 dollars, and rapidly
approaching $1,000.
While the cost of sequencing an
individual's genome has dropped
dramatically, the real challenge for
companies is completing the studies
24
Clinical OMICs September 2016
needed to demonstrate the clinical
validity and utility of promising tests.
Most genomic tests are delivered as
laboratory developed tests (LDTs).
Historically, LDTs are single analyte
tests in which the clinical utility or
validity isn't in question, and there is
often a known standard that a laboratory can use to validate against.
However, many of the newest, most
promising tests for precision medicine are multi-gene panels that rely
upon a complex algorithm to make
a non-obvious medical determination. There often isn't a standard to
compare to. In many instances, clinical validity and/or utility is not easily demonstrated without running a
large-scale clinical study.
Commercialization
Roadblocks
Unfortunately, with the recent U.S.
Supreme Court ruling that genetic
tests are not patentable and the trend
towards significantly reduced health
insurance reimbursement rates, many
investors and companies are reluctant to invest in large-scale validation
studies for new genomic tests. As a
result, the development of several
promising diagnostic tests are stuck
in the valley of death between discovery and commercialization. In other
instances, tests are commercialized
with insufficient or subpar clinical
evidence, leading to poor acceptance
and significant push back from the
FDA, insurance providers, and medical community at large.
The recent commercialization of
several insufficiently validated-and
suspect-diagnostic tests are at the
heart of the on-going argument
between the FDA and the clinical testing industry. The FDA feels that there
is a lack of oversight of LDTs, and are
arguing it is their right to increase regwww.clinicalomics.com
http://www.clinicalomics.com
Table of Contents for the Digital Edition of Clinical OMICs - Volume 3, Issue 9
Contents
Clinical OMICs - Volume 3, Issue 9 - Cover1
Clinical OMICs - Volume 3, Issue 9 - Cover2
Clinical OMICs - Volume 3, Issue 9 - Contents
Clinical OMICs - Volume 3, Issue 9 - 4
Clinical OMICs - Volume 3, Issue 9 - 5
Clinical OMICs - Volume 3, Issue 9 - 6
Clinical OMICs - Volume 3, Issue 9 - 7
Clinical OMICs - Volume 3, Issue 9 - 8
Clinical OMICs - Volume 3, Issue 9 - 9
Clinical OMICs - Volume 3, Issue 9 - 10
Clinical OMICs - Volume 3, Issue 9 - 11
Clinical OMICs - Volume 3, Issue 9 - 12
Clinical OMICs - Volume 3, Issue 9 - 13
Clinical OMICs - Volume 3, Issue 9 - 14
Clinical OMICs - Volume 3, Issue 9 - 15
Clinical OMICs - Volume 3, Issue 9 - 16
Clinical OMICs - Volume 3, Issue 9 - 17
Clinical OMICs - Volume 3, Issue 9 - 18
Clinical OMICs - Volume 3, Issue 9 - 19
Clinical OMICs - Volume 3, Issue 9 - 20
Clinical OMICs - Volume 3, Issue 9 - 21
Clinical OMICs - Volume 3, Issue 9 - 22
Clinical OMICs - Volume 3, Issue 9 - 23
Clinical OMICs - Volume 3, Issue 9 - 24
Clinical OMICs - Volume 3, Issue 9 - 25
Clinical OMICs - Volume 3, Issue 9 - 26
Clinical OMICs - Volume 3, Issue 9 - 27
Clinical OMICs - Volume 3, Issue 9 - 28
Clinical OMICs - Volume 3, Issue 9 - 29
Clinical OMICs - Volume 3, Issue 9 - 30
Clinical OMICs - Volume 3, Issue 9 - 31
Clinical OMICs - Volume 3, Issue 9 - 32
Clinical OMICs - Volume 3, Issue 9 - 33
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