First Bedside Gene Test Shows Promise

THURSDAY, March 29 (HealthDay News) — For the first time, a
genetic test done at a patient’s bedside helped doctors choose the right
medicine, Canadian researchers report.

The test, which can be done by nurses and others, was able to identify
patients in whom the blood thinner Plavix might be ineffective, putting
the patients at risk for heart attacks or strokes.

“One of the shortcomings we have in medicine right now is that there
isn’t a quick and effective way of identifying these genetic variants,”
said lead researcher Dr. Derek So, from the University of Ottawa Heart
Institute.

“We have created the world’s first point-of-care genetic test,” he
said. “We now have the means of selecting the right drug for the right
patient.”

The report was published in the March 29 online edition of The
Lancet
.

To prove the test works, So’s team randomly assigned 200 patients to
either receive screening for a gene called CYP2C19*2 using the gene test,
or to regular care.

All of the patients had undergone a procedure called angioplasty to
open a blocked heart artery and had a stent placed there to keep the
vessel open.

Standard care after the procedure is to give patients Plavix to prevent
clotting. However, many patients have this gene mutation, which makes the
drug ineffective and patients more likely to develop a clot that could
result in a heart attack or stroke.

Among those with European ancestry, about 30 percent have this
mutation, and among Asians it’s as high as 50 percent, the researchers
noted.

Normally, after starting a patient on Plavix, a platelet function blood
test is done to see how the patient reacts to the drug.

In this study, those getting the gene test were given a low dose of
Plavix and the others received a regular dose. Both groups were given the
drug so the researchers could judge the accuracy of the rapid gene test
using the platelet function test as confirmation.

The researchers found the gene test accurately identified all the
patients with the gene mutation. Patients who had the mutation were
switched to a newer drug called Effient, which is not affected by this
mutation.

After one week, 30 percent of those in the standard group were
identified by the platelet function test as having a raised risk for
clotting, while none of those in the gene test group showed an increased
risk for clotting, So said.

“This is the first step required for personalized medicine,” So said.
“Ours is a proof-of-concept study. Now that we have this tool we can apply
this same technology to different groups of patients and alter patient’s
therapy. We have taken bench to bedside.”

One expert, Dr. Kirk Garratt, the clinical director of interventional
cardiovascular research at Lenox Hill Hospital in New York City, thinks
more proof is needed of the benefits of this particular test, but its real
value is its potential.

“Before anybody can get too worked up about the application of this
technology in the clinic, we will have to see evidence that acting on the
information provided actually yields benefit,” Garratt said.

“There is one really dazzling benefit,” he added. “These researchers
have now shown that you can take a minimally trained allied health person
and do accurate genotyping on patients in the clinic — that is really big
news.”

The test is given by taking a swab from the patient’s cheek, putting it
in a machine and getting a result in about an hour. The test can be done
by people who have never done genetic testing after just 30 minutes of
training, So said.

Larger trials will be needed to see if the test makes a difference in
patient outcomes, So noted. Spartan Biosciences, which makes the test used
in the study, funded the trial.

In terms of cost, the machine goes for about $10,000 and each test kit
is about $300, So said. That’s relatively inexpensive if it prevents
patients from getting the wrong drug.

One advantage is that the test can be given before patients receive
their first dose of Plavix, So pointed out.

In addition, as Plavix (clopidogrel) becomes a generic drug — as it is
in Canada — its cost goes down, while the newer drugs like Effient
(prasugrel) and Brilinta (ticagrelor) are very expensive and are
associated with an increased risk of bleeding, he noted.

Commenting on the study, Dr. Amber Beitelshees, an assistant professor
of medicine at the University of Maryland School of Medicine in Baltimore
and author of an accompanying journal editorial, said that “for the first
time, a point-of-care genetic test has been developed which can be used to
rapidly screen individuals who carry a particular gene and may benefit
from an anti-platelet drug other than Plavix.”

Beitelshees added that “this is important because rapid genotyping is
necessary in order for genotype-guided therapy to be incorporated into
clinical care of patients undergoing coronary interventions outside of
clinical trials.”

However, another expert thinks much more needs to be shown about the
value of this test before it can start to be widely used.

Dr. Gregg Fonarow, director of the Ahmanson-UCLA Cardiomyopathy Center
and co-director of the UCLA Preventative Cardiology Program in Los
Angeles, said that “there has been great interest in using genetic testing
information to guide selection of medications and dosing, yet to date
there has been little evidence that this testing can improve clinical
outcomes.”

However, Fonarow continued, “as neither genetic testing for variant
CYP2C19 or platelet-function testing has been demonstrated to improve
clinical outcomes and routine use of these tests are not currently
recommended, further studies demonstrating any clinical utility, if any,
are needed.”

More information

For more on angioplasty, visit the U.S. National Heart, Lung, and Blood Institute.

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