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of GINA removes that barrier. I think the
new law will have a positive impact on genetic
testing in general.”
Critchfield noted that Myriad’s revenues
have increased despite not having a national
nondiscrimination law. “Revenue growth
for our company was 44% last fiscal year
and has increased thus far this year,” he said.
Myriad’s success is based in large part on
the BRCA1/2 genetic tests, which have been
commercially available in the United States
since 1996. According to the National Cancer
Institute, more than 192,000 women
each year learn that they have breast cancer,
and about 5–10% of them have a hereditary
form of the disease. A woman’s lifetime
chance of developing breast and/or ovarian
cancer increases if she inherits a mutated
BRCA1 or BRCA2 gene.
Myriad’s list price for the comprehensive
test, which analyzes the entirety of the gene
for sequence changes and structural rearrangement
is $3,120. There are two other
testing options: once the mutation has been
found by the comprehensive screening test,
family members can be tested for the mutation
at a cost of $350; and analysis for a
panel of three mutations that are common
in people who have Ashkenazic Jewish ancestry
is $415.
“Insurance coverage for BRCA analysis
testing is excellent, with well over 2,500
insurers who reimburse for the test,” explained
Critchfield. “And as we remove barriers
to testing, there are more people who
To read more about Gina, as
well as the text of the legislation,
go to http://thomas.loc.gov/.
pharmacogenomic Testing still faces challenges
SACGHS Releases Final Report
experts believe that gina will likely involve more people
in genetic testing, partly through enhanced participation
in pharmacogenomic research. one challenge to this
relatively new discipline has been the issue of privacy,
especially when large amounts of personalized information
may be just a mouse click away.
“this is where the passage of gina into law becomes
even more relevant,” noted Kevin fitzgerald, sJ, phd,
associate professor of oncology and david lawler, Chair
for Catholic Health Care ethics at georgetown university
Medical Center’s lombardi Comprehensive Cancer
Center in washington, d.C. fitzgerald is a member of
the secretary’s advisory Committee on genetics, Health,
and society (saCgHs), which recently finalized its report
Realizing the Potential of Pharmacogenomics: Opportunities
and Challenges. He served as a member and then the
chair of the task force that wrote the document, which
outlines a number of recommendations and considerations
in relation to pharmacogenomics research and
development and its integration into clinical practice
and public health. “pharmacogenomics itself is very
much still in its infancy. it’s one piece of this personalized
medicine arena that is exploding around us.”
although pharmacogenomics has significant potential
to improve drug research and development, healthcare
delivery, and, ultimately, patient health, it also faces
considerable challenges, according to the report. for
will decide to make use of these predictive
assessments.”
Time to Gear Up?
Although tests involving genetic mutations
won’t soar overnight now that GINA has
become law, labs may want to take another
look at expanding their menu of genetic
tests. “Labs need to prepare for potential
new tests and any anticipated increase in
volume,” Tsongalis recommended, adding
that such tests may be “a good marketing
tool for the larger reference labs.”
A similar opinion was voiced by Gualberto
Ruaño, MD, PhD, President of
Genomas, Inc. (Hartford, Conn.) and
Director of Genetic Research at Hartford
Hospital. “GINA is very salubrious for personalized
medicine. It will not change the
day-to-day operations of genetic testing
example, some healthcare payers have been reluctant to
cover pharmacogenomics products due to limited evidence
of their health and economic impacts, the absence
of clinical practice guidelines and dosing recommendations,
and a lack of education and training in genetics.
and until the passage of gina into law, the question of
privacy was very much an issue.
“but perhaps the major challenge revolves around
information,” fitzgerald noted. “You’ve got to have large
bodies of genetic and genomic health record information,
because that’s the basis on which we will come to
a new and better understanding of how drugs actually
work in different individuals. we know generically how
things work, but on an individual basis, everyone—even
identical twins—is different. so to get an answer to the
question of how this particular drug works in this particular
person at this particular time under these particular
circumstances, we need enormous amounts of data.
and gina will help to keep that data protected.”
the next challenge, he said, is assembling that information
in such a way that it is translatable to research
scientists and clinicians. “and then, once we understand
what we think it is that we want to know, we need to
prepare a roadmap and determine the logistical hurdles
that need to be addressed.” to read the saCgHs report,
go to www4.od.nih.gov/oba/sacghs/reports/saCgHs_
pgx_report.pdf.
in 2008, but it is very positive in terms of
growth of the field for the rest of this decade
and beyond. However, one of the
biggest concerns people have about these
tests is whether or not the cost will be reimbursed,”
he said. “This is one of those factors
that affect the translation of scientific
research to real-world medicine. And these
tests need to demonstrate economic value
to assure reimbursability.” CLN
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