February 27, 2012
Separating hype from reality in the era of the affordable genome
The era of the affordable genome provokes as many philosophic and therapeutic issues as it resolves.
Photo credit: ©2012 Thinkstock
Though the fast-falling price of full-genome sequencing may be inducing buyer remorse in a few millionaires, it is good news for everybody else. “As it gets less and less costly, genomic information will become much more accessible,” says Cinnamon Bloss, lead investigator of the Scripps Genomic Health Initiative at the Scripps Translational Science Institute in La Jolla, California.
So the era of the affordable genome is nearly upon us, which means, surely, we are finally on the cusp of the much-anticipated age of personalized medicine, when drugs will be tailored to everybody’s unique biochemistry, when the mysteries of disease will be laid bare, when trial and error in medical treatment will become but a memory, when health care will be individualized, revolutionized and super-duperized.
Cue sound of trumpets. Health care heaven is imminent.
Well, that might be overstating things a tad. Separating hype from reality in the field of genomic medicine isn’t easy. For more than a decade, many lofty promises about the potential of genetics to improve human health have been made but, in general, humans aren’t getting any healthier. Turns out a genetic test for predisposition to obesity doesn’t make jogging more fun or cheesecake less delicious.
That doesn’t mean, of course, that genomic medicine is a bust. Far from it, say genetic researchers. There is plenty of promising work being conducted in labs, some of it ready to be integrated into clinical care. But will this research lead to a revolution in medicine? Probably not. A more realistic view is that genetic technologies will become valuable, not transformative, tools in the fight against disease.
“Like any new technology, you get a big rush of enthusiasm and then you get a backlash,” says Dr. James Evans, editor-in-chief of Genetics in Medicine and Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina in Chapel Hill. “The reality is somewhere in between.”
CMAJ will be exploring that in-between reality in a series of articles, touching on various philosophic and therapeutic issues related to genetic medicine, including:
Hype: The excitement
surrounding genomic medicine started as genuine enthusiasm among
researchers but quickly ballooned
into exaggerated expectations and
predictions of a revolution in medicine. How did that happen? What
learn from it? Will the
inevitable backlash tarnish the field of genetics?
Paternalism: In the
early days of direct-to-consumer genetic testing, many geneticists
suggested that consumers shouldn’t
interpret genetic information alone,
but rather should consult with physicians. Actually, many still
feel that way.
What if patients discover
devastating news? Does that cause anxiety? Advocates for access to
information say people can handle the
truth and that physicians, though well intentioned, need to stop
worrying so much.
It’s well known that certain diseases are more prevalent in
particular ethnic groups. Does that mean race is
a good proxy for genetic ancestry? Many
genetic experts say it isn’t. Fearing that companies might
exploit race to
market new health products, they warn
against creating therapies for specific races. Furthermore, they
on genetics rather than on social
and economic inequalities might actually increase the health
different ethnic groups.
Family medicine: Many
experts in genetics are wary of direct-to-consumer genetic testing
and are calling for regulations to ensure
physicians are involved in the process.
But how do family doctors, who may not have expertise in
genetics, feel about
that? Are they ready and able to
discuss the benefits and risks of genetic testing with their
marketing departments of direct-to-consumer genetic testing
companies make some bold claims about the predictive
value of their services. But can the
test actually uncover health risks? Some genetic experts are
consider such endeavours little more
than recreational genetics.
is power, so the cliché goes. But does genetic information have
to power to change unhealthy behaviours?
If not, can it somehow be leveraged to
help people put down doughnuts and pick up dumbbells?
As more and more people dig into their genomes and discover
predispositions toward diseases such as cancer,
will there be an increase in people
undergoing preventive surgery? How, for example, do doctors feel
healthy breasts and ovaries from a
laws in some countries to ward off genetic discrimination, some
people still fear the secrets in their genes
will be used against them. Will
health insurers in the United States, for instance, eventually
base premiums on
genomes? What about long-term health
insurance or disability insurance? On the flip side, is it fair
for people with
knowledge of predispositions to disease
to load up on insurance? Will the model used by the insurance
Next: Popping the genetics bubble