FEATURE
Decoding Genomic Profiling
G
enetic assays, new sequencing platforms, and
growing evidence about the role mutations
play in malignancies and cancer risk have
given hematologists and oncologists more
information to work with than ever before, but are
they actually leading to better patient care? While
genomic profiling can be a valuable tool for some
patients, experts say it isn’t without its pitfalls.
“The hype surrounding genomic profiling is
really problematic,” said Wylie Burke, MD, PhD, a
professor of bioethics and humanities at the University of Washington in Seattle. “The genome has been
presented to the public as ‘Your Instruction Manual’
that will tell you what to worry about and what not
to worry about.” Armed with enough genetic information, it seems, a person can make the necessary
adjustments to reduce his or her risk of developing a
condition. “That’s erroneous, in a fundamental way.”
ASH Clinical News recently spoke with Dr. Burke
and other experts in the field of genomic profiling
to learn about the value of genomic profiling and
genetic sequencing, as well as their limitations and
potential pitfalls as researchers push to move genetic
findings out of the laboratory and into the clinic.
Too Much Information,
or Too Little?
There is no shortage of researchers working to find
new ways to put genetic information into practice
– from characterizing a patient’s genetic risk for
later developing a disease to uncovering the genetic
makeup of existing tumors to guide treatment and
find new therapeutic targets based on patients’
genomes.
Great strides have already been made in this
field, with the discovery of a slew of inherited and
somatic genetic variations that contribute to the
predisposition, disease progression, and treatment of
a variety of hematologic malignancies. A genetic basis
to other non-malignant hematologic disorders has
also been uncovered, including bone marrow failure
syndromes, some forms of hemoglobinopathies, and
severe congenital neutropenia.
There are still unanswered questions about
how much these discoveries are impacting
patie