Clinical Laboratory News - American Association for Clinical ...

GINA Opens Door for Research Participation
Gina, from page 6
Chakravarti also pointed out that genetic
testing is already done on a routine
basis but that not many people would
recognize it as such. “Newborn screening
is performed in all 50 states and has been
done so for decades, so there’s a very large
number of Americans who have taken a
genetic test. And, blood typing is another;
you can’t do transfusions without knowing
someone’s genotype, and that information
has led to a system for donating blood, organs,
and bone marrow.”
GINA and Research Efforts
Medical researchers anticipate that GINA
will pave the way for individuals to take
part in research without worrying about
repercussions. “GINA removes a significant
barrier to participation in clinical research
protocols,” said Collins. “For example, at the
National Institutes of Health, fear of genetic
discrimination is the most commonly cited
reason that people decline to participate in
research on potentially life-saving genetic
testing for colon cancer and breast cancer.
One-third of eligible participants have declined
on this basis.”
Along with greater participation in
clinical trials involving genetics, GINA is
expected to have a positive impact on the
growing field of pharmacogenomics, in
which an individual’s genotype is used
to guide drug therapy and/or dosage. Research
in this field also has the potential to
increase the safety and effectiveness of new,
existing, and failed drugs, and could enable
8 CliniCal laboratory news JuLy 2008
more drugs to reach the market by targeting
them to genetically defined subgroups
of patients. “People will be more inclined
to undergo genetic testing for responses to
medications if they know that their test results
will not affect their job or health insurance
status,” explained Collins.
One active area of pharmacogenomic
research centers on using genetic information
to reduce the high incidence of adverse
drug reactions, Collins added. “Consider
the example of warfarin. Healthcare providers
have found this anticoagulant drug
notoriously difficult to administer because
its dose requirements vary widely among
patients and because of its relatively narrow
margin for error, with either too much or
too little of the drug triggering potentially
life-threatening problems. Now, thanks to
the identification of two genetic variations
that appear to account for much of the differences
in warfarin sensitivity, the National
Heart, Lung, and Blood Institute is launching
a clinical trial to evaluate a pharmacogenomic
strategy for warfarin that will weigh
the potential safety benefits with the costs
of genetic testing.”
So far, FDA has approved label changes
for two drugs based on pharmacogenomic
data. In 2005, the agency approved label
changes for the chemotherapy agent irinotecan
to include a warning that patients
with a particular UGT1A1 genotype should
receive a lower initial dose of the drug. And
in 2007, the Coumadin (warfarin) package
label was updated to provide information
about genetic testing for warfarin sensitivity.
Although the FDA stopped short of
personalized medicine coalition
applauds enactment of Gina
the personalized Medicine Coalition—a partnership of academic, industrial,
patient, provider, and payer communities that includes aaCC—endorses
the passage of gina into law, saying that the privacy and protection of
genetic information is essential to the progress of medicine, as well as improving
the quality of care for every person.
“the guarantees provided by this legislation will encourage millions of
americans to use their genetic information to improve their healthcare and
to help prevent cancer and other inheritable diseases,” said edward abrahams,
phd, the pMC’s executive director.
only a few states have strong protections against genetic discrimination,
he added, which left some individuals more vulnerable to this type
of prejudice depending on where they lived. “gina provides a national
framework of enforceable protections needed to advance medical research
and public health. and under gina, there now are federal rules in place to
protect those who are privately insured,” abrahams said.
abrahams noted that gina’s path through Congress prompted two corporate
members of the pMC—ibM (armonk, n.Y.) and eli lilly (indianapolis,
ind.)—to add genetic nondiscrimination to their employment policies in
advance of the law’s passage. the organization noted that another pMC
member, aetna (Hartford, Conn.), also has publicly announced its support of
the new law.
the pMC believes that gina, along with improvements in regulatory
and reimbursement policies that acknowledge the realities of geneticsbased
medicine, will set the stage for the discovery of new treatments and
cures, as well as an accelerated path toward personalized medicine.
requiring genetic testing prior to taking
the drug, it recognized that adverse bleeding
events could be reduced in patients
with certain variations in the CYP2C9 and
VKORC1 genes involved in metabolism
and uptake of the drug. Now that the barrier
to individual genetic privacy has been
lifted, both patients and clinicians could
become more comfortable with using genetic
information for drug dosing. This, in
turn, could result in an increased demand
for such tests.
Testing for Inherited Breast Cancer
One of the most highly impactful areas of
genetic testing involves inherited forms of
breast cancer. Gregory Critchfield, MD,
President of Myriad Genetic Laboratories,
Inc. (Salt Lake City, Utah), the first company
to offer testing for the BRCA1 and
BRCA2 genes that are linked to breast
cancer, is optimistic about GINA’s effect
on genetic testing. “There have been some
patients for whom potential insurance discrimination
was an issue, and the passage