TRAINING and EDUCATION
Demystifying the Lab
In this section, ASH Clinical News takes a look at the complex scientific
techniques that hematologists/oncologists hear every day, with practical
information for the practicing clinician.
DEMYSTIFYING
Genomic Panels for
Hematologic Malignancies
It seems as if every medical journal, and
even President Obama’s “State of the
Union” address earlier this year, mentions
“precision” medicine, “targeted” therapies,
or makes some other reference to using
genomic tests in diagnosing or treating
cancer patients.
This innovative approach takes into
account an individual patient’s molecular
information to understand the biology
of his or her disease. Genomic tests, or
panels, can be used to customize treatment and predict prognosis and therapeutic response.1 Because cancer is a genetic
disease, often caused by a combination of
mutations working together, the potential
impact of precision medicine in oncology can be huge, and therapeutics have
already been developed against a variety of
cancer-related mutations.2
But what do we mean by “genomic
panels,” and what can hematologist/oncologists do with the information they get
back from testing labs? ASH Clinical News
spoke with researchers specializing in
genomics and genetics about techniques
for gathering genomic data, the differences
among sequencing platforms, and their
applications in clinical practice.
Cancer Genetics 101
There are two basic types of genetic mutations that can cause cancer: somatic and
germline.
• Somatic, or acquired, mutations are
changes in DNA that occur after
conception, only affect cells that grow
from the mutated cell, and are not
passed on to the next generation.
Somatic mutations cause the majority
of cancers. This can be spontaneous,
arising randomly, or caused by
environmental factors, such as extreme
radiation exposure.
• Germline, or hereditary, mutations are
alterations to DNA within all cells of
the body, including germ cells (sperm
and egg). People are born with these
mutations, and they can be passed on to
the next generation. Inherited cancers
caused by germline mutations make
up approximately 5 to 10 percent of
malignancies.3,4
ASHClinicalNews.org
The Role of Genomic Panels
in Precision Oncology
The development of high-throughput,
massively parallel DNA sequencing technologies, or next-generation sequencing
(NGS), has dramatically reduced the cost
of sequencing over the last decade. These
methods are rapidly providing unprecedented insight into the pathogenesis of
hematologi