A third way scientists are capitalizing on genetic sequencing is by using it to understand
the genetics of cancerous tumors. Tumors are
heterogeneous. Simplistically, tumors are made
up of cells that are cancerous, those that are
going to become or are becoming cancerous,
and some that will never be cancerous.
“Not knowing the difference [between the
tumors] makes it difficult to think about a
good treatment strategy,” Perera said.
Most of the time treatments are done
blindly, with everyone who has the same
kind of tumor getting the same kind of medicine in the same dosage. But, genomics is
changing that. It’s allowing treatments to
be tailored depending on the tumor and its
characteristics—the first step in personalized medicine.
Genomic research is driving the identification of biomarkers, which aid in the treatment
of many diseases, from the more common cardiovascular disease and rheumatoid arthritis
to the relatedly rare monogenic diseases.
A recent special issue of the journal
Clinical Chemistry focused on cardiovascular
disease and the use of biomarkers for assessing risk, treating and managing cardiovascular disorders. In the introduction, the
editors write, “Despite the success of medical
advances marked by a steady downward
trend in cardiovascular deaths over the past
10 years, heart disease is still the number one
cause of death in both men and women in the
U.S.” No genetic markers have been identified
as of yet, although there are many candidates
Perera’s work has included genome-wide
studies into prostate cancer and metastatic
melanoma. Currently, the standard test to determine if a person has prostate cancer is to
measure prostate-specific antigen (PSA). But,
the test can be inaccurate if the individual has
prostatitis or an enlarged prostate, leading to
an unnecessary biopsy.
Perera and his team are working to identify
biomarkers that would separate these conditions. Since the urethra runs through the
middle of the prostate, they captured cells
from the urine of men with prostate cancer
and those without, sequenced them and com-
OUTLOOK ON GENOMICS