When Genes Mean Risk, Knowing Helps
Genetic Testing Available, But Debated
By Lauran Neergaard THE ASSOCIATED PRESS WASHINGTON
05-06-2008
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Everyone’s genes spell out a risk for some disease, and an imminent anti-discrimination law is about to give genetic testing a boost.
But discrimination is just one hurdle. The bigger quandary: Doctors don’t yet know how many of the genetic tests being pushed for dozens of conditions are truly useful — and how many are misleading at best.
“Some of these tests are complete rubbish,” warns Dr. Howard McLeod, a personalized medicine specialist at the University of North Carolina. “The big challenge for a consumer is figuring out which data is real or not, without having to go to medical school.”
Soon, President Bush is expected to sign into law federal protection against genetic discrimination, a bill barring employers and insurers from using test results against patients.
First to benefit will be people who have put off learning whether they have inherited genes responsible for diseases that run in their families — breast cancer, colon cancer, Huntington’s, early-age Alzheimer’s — for fear of losing insurance coverage or a job.
No one knows how many people that encompasses. The National Institutes of Health estimates 30 percent of potential volunteers for gene studies cite discrimination fears in backing out. At the same time, states have adopted a patchwork of protections, and steadily growing use of two of the best-proven tests — for the BRCA1 and BRCA2 gene mutations linked to breast and ovarian cancer — suggests that lingering concern hasn’t been a huge deterrent for people with strong family histories of disease.
But until now, most genetic testing has been for conditions linked to single genes gone wrong, typically rare ones.
That’s changing.
Most diseases — including diabetes and the No. 1 killer, heart disease — are caused by complex interactions of multiple genes and environmental factors, such as diet, exercise and smoking. With scientists rapidly discovering gene variants for these more common conditions, genetic testing in turn is poised to boom.
Yet laboratories can market tests for those newly discovered DNA glitches before scientists prove how risky they are, or whether knowing you have one will make any difference in your health care.
So while the pace of discoveries makes for a thrilling time, genetic testing in some ways is science’s Wild West — with more than 1,200 different genetic tests available, but only a fraction accepted by mainstream medical groups, McLeod notes.
Just last week, government health advisers called for more oversight of genetic testing, citing “significant gaps” in validating the tests’ usefulness, especially those sold directly to consumers.
Specialists advise anyone considering a gene test to:
• Consult a doctor or one of the nation’s 3,000 genetic counselors, to weigh pros and cons.
• Ask what the results will mean for siblings or children. How big is their risk, and do they want to know?
• Ask how accurate the test is, and if knowing you’ve got a risky gene allows you to take steps for better health or just worry.
“It’s not of value unless you’re going to do something to modify your health behavior,” cautions Angela Trepanier of Wayne State University, president of the National Society of Genetic Counselors.
Eshelman gift, match net $2 million for UNC pharmacy education
02-14-2008
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On the heels of his recent $9 million gift to the
School of Pharmacy at the University of North Carolina at Chapel Hill,
Fred Eshelman has contributed another $1 million to support the School’s
Educational Renaissance initiatives, which attracted $1 million in matching
funds from the Pharmacy Network Foundation.
Eshelman is CEO and founder of Wilmington-based
PPD Inc., a leading global contract research organization providing discovery,
development and postapproval services as well as compound partnering programs
to the biopharmaceutical industry.
The Educational Renaissance is the School’s
plan to address the needs of the next generation of students who are expected
to learn very differently from the students of the past, said Bob Blouin,
PharmD, dean of the School of Pharmacy. “We’re on the brink
of falling into a generation gap between educators and learners,” Blouin
said.
“Children who grew up in the ’90s have never known life
without the World Wide Web and the instant access to information that it
affords. They are going to thrive in an educational environment that mirrors
that access.” Gary Pollack, PhD, the School’s executive associate
dean, is leading the group working to develop and implement the principles
and technology behind the School’s educational initiatives.
Pollack
has been teaching at the School for more than 20 years and is the recipient
of a number of its teaching awards. “The students we will be teaching
in the very near future are used to finding information on their own,” Pollack
said. “They find it more interesting and stimulating to seek out
the information rather than wait for someone to give it to them.
They are
increasingly intolerant of a traditional lecture.” The Educational
Renaissance will move the knowledge transfer aspect of education—such
as a traditional lecture—out of the classroom and put it online.
Students would come to class fully prepared to learn to apply that knowledge,
which is the key to developing the critical thinking skills so important
to a pharmacist, Pollack said.
In January Eshelman pledged $9 million to
support cancer research at the School of Pharmacy. He made a $20 million
gift to the school in 2003. He said that he made his most recent gift to
help the School of Pharmacy reach its potential.
“The UNC School
of Pharmacy has the opportunity to be the leading pharmacy school in the
nation,” Eshelman said. “The ideas behind the Educational Renaissance
promise to revolutionize pharmacy education, and I felt it was important
for the School to be able to move quickly to implement them.” The
gift was matched by the Pharmacy Network Foundation, which works to promote
and enhance pharmacy service in order to improve the health and welfare
of the general population.
“The Foundation’s board is happy to support the development
of the School of Pharmacy’s Educational Renaissance,” said
Mitchell Watts, chairman of foundation’s board of directors. “We
believe this program will offer students the best educational tool yet
developed for modern-day learning. This translates into having the most
qualified pharmacists to serve the health-care needs of North Carolina.
”
© 2008 Associated Press
