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| Research News |
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| Friday, March 28, 2008 |
Berman Institute's Dr. Gail Geller quoted in the Washington Post
The Washington Post
March 25, 2008 Tuesday
SECTION: A-SECTION; Pg. A01
Genetic Testing Gets Personal; Firms Sell Answers On Health, Even Love
BYLINE: Rick Weiss; Washington Post Staff Writer
In January, at the World Economic Forum in Davos, Switzerland, movers
and shakers lined up to spit into test tubes -- the first step to having
snippets of their DNA analyzed by 23andMe, a personalized gene-testing
company that for $999 promises to help people "search and explore their
genomes."
Those wanting an even more complete analysis of their biological
inheritance can turn to Knome, a Cambridge, Mass., company that, for
$350,000, will spell out all 3 billion letters of their DNA code -- an
unparalleled opportunity, the company says, to "Know thyself."
For singles on tighter budgets and with narrower interests, there is
ScientificMatch.com, which says that its $995 genetic test will help
clients find DNA-compatible mates who will smell sexier to them, have
more orgasms and produce healthier children.
This is the world of direct-to-consumer genetic testing, a peculiar mix
of modern science, old-fashioned narcissism and innovative
entrepreneurialism, all made possible by the government-sponsored Human
Genome Project.
More than 20 companies today offer "personalized genomics" tests that
promise to help clients discern from their DNA what diseases they are
likely to get, whether they are shy or adventurous, even their
propensity to become addicted to drugs. A growing number bypass doctors
and deal directly with consumers.
The trend has critics warning that the market is becoming rife with
hype. The field is effectively free of regulatory oversight, watchdogs
note, and much of the science behind the results is still sketchy.
But backers of these enterprises say they are pioneering nothing less
than a medical and cultural revolution. With each person who adds his or
her DNA to the companies' high-security databases, they say, links
between specific gene variants, health conditions and behavioral traits
are getting documented, speeding discoveries about biology, identity and
destiny.
"We call it consumer-enabled research," said Linda Avey, co-founder of
23andMe, based in Mountain View, Calif. "It's about changing the
paradigm of how research is done."
It is also about self-discovery and a new kind of social networking, as
"members" -- as some companies call them -- learn about their DNA
details and share them with others.
"We envision a new type of community where people will come together
around specific genotypes, and these artificial barriers of country and
race will start to break down," said Anne Wojcicki, who with Avey
co-founded 23andMe.
"I think people will really get into it," said George Church, the
Harvard geneticist who co-founded Knome and founded the not-for-profit
Personal Genome Project, which will compare the genomes of 100,000
people willing to make their DNA public. "I think this is going to
connect people clear around the world."
Gene Chips Slash Costs
Personalized medicine, the detection of people's individual health risks
and the tailoring of preventive strategies and therapies just for them,
has been a buzzword for years. But it remained elusive until
technological advances allowed researchers to scan huge stretches of
human DNA quickly and at relatively modest expense.
"Gene chips" that cost just a few hundred dollars can today detect
hundreds of thousands of tiny molecular hiccups in a smidgeon of DNA
collected from saliva or blood. Unlike better-known genes that
single-handedly cause inherited diseases such as sickle cell anemia,
most of these gene variants add in very small ways to a person's medical
weaknesses or strengths.
Only about 100 such glitches have been convincingly linked to specific
diseases or behavioral tendencies, but new connections are being
discovered every month. Together they can start to paint a picture of a
person's health prospects and behavioral predilections.
Meanwhile, the cost of spelling out an individual's entire genetic code,
or genome, is also dropping precipitously, from several million dollars
a few years ago to about $1 million last year and an anticipated
$200,000 or so this year.
"Our goal and vision has been to make a total human genome affordable,"
said Christopher K. McLeod, chief executive of 454 Life Sciences in
Branford, Conn., which makes some of the fastest and most powerful
gene-sequencing machines under the corporate motto "Measuring Life One
Genome at a Time."
By comparing an individual's genetic profile with databases of known
correlations, companies can calculate that the person, for example, is
30 percent more likely than average to get colon cancer, 20 percent less
likely to get cataracts, and 10 percent more likely to be impulsive or
have anger-management issues.
Yet the probabilistic nature of those results is potentially
problematic, said J. Craig Venter, the geneticist who broke scientific
and cultural ground last year when his eponymous Rockville research
institute spelled out his entire genetic code and posted the results on
a publicly accessible database, revealing to the world that he has,
among other things, genetic inclinations toward wet earwax.
It can be entertaining, Venter said, to learn one has a gene for soggy
earwax. "But if you're on the receiving end of one of these tests and
are told your probability of having a serious problem is 62 percent,
what the hell does that mean?"
Results Can Mislead
And that is assuming the results are correct. As it turns out, many gene
tests today search for DNA patterns that have been linked to a disease
or trait in only one or two studies. Such findings are often overturned
by later research.
Even if the findings hold up, there are countless other genes still
unstudied that experts say will eventually be found to either augment or
counterbalance the risks discovered to date. Until those factors --
harmful and protective -- are added to the gene chips, clients run the
risk of being misled.
"This information can be quite profound," said R. Alta Charo, a
professor of law and bioethics at the University of Wisconsin. "It can
lead to a decision to have your breasts chopped off before you've been
sick for a day or having your ovaries scooped out before you have
children. These are dramatic decisions, but these products are going on
the marketplace as though they were underarm deodorant."
Exacerbating the problem is that virtually no one is watching over the
industry. The Food and Drug Administration does not regulate most
gene-based tests, and there is no federal proficiency-testing system for
companies offering them.
So while some of the new companies, including 23andMe, Knome and
Navigenics of Redwood Shores, Calif., boast solid teams of renowned
researchers and emphasize that the information they provide is not
diagnostic, other outlets inhabit the scientific fringe.
Perhaps most denigrated by experts are those that purport to identify
people's nutritional needs from their DNA and then sell them dietary
supplements at a hefty profit.
"It is totally bogus," said Gail Geller of the Berman Institute of
Bioethics at Johns Hopkins University, whose research has documented how
easily the public can be bamboozled by genetic test results.
Then there is ScientificMatch.com, which "uses your DNA to maximize the
chances of finding chemistry -- actual, physical chemistry -- with your
matches," according to the company's Web site.
At the heart of that claim is a hypothesis that people are most
attracted to others whose immune systems differ most from their own. A
few studies have found evidence supporting the idea (it may be an
evolutionary strategy for maintaining genetic diversity). But at best,
geneticists say, it is a narrow basis upon which to choose a mate.
"It creates an air of charlatanism that doesn't help the field," Venter
said.
All told, concluded a study in this month's issue of the American
Journal of Human Genetics, "There is insufficient scientific evidence to
conclude that genomic profiles are useful in measuring genetic risk for
common diseases or in developing personalized diet and lifestyle
recommendations for disease prevention."
The Science Is Still Young
Despite today's limitations, the day will come, experts agree, when
enough will be known about human genetics so that a scan of an
individual's genome will convincingly predict that person's medical
risks and behavioral foibles -- perhaps with enough assuredness to
dictate preemptive therapy or even extend disability rights to some
whose behavior falls outside societal norms. But the only way to get
there is to collect massive amounts of data from a wide array of people
so computers can find those correlations.
That task is underway, but the work takes time, which is why
direct-to-consumer genomics companies say they should be welcomed. Most
people are disinclined to sign up for research that offers nothing in
return, Wojcicki said, but at 23andMe, "they get something back right
away, and they are also part of something really powerful."
Wojcicki predicts that as members share information about their genes,
their health and their personalities -- an irresistible option for many
in this age of electronic "friending" -- the new enterprises will
revolutionize health care "the way YouTube revolutionized media."
"I call it the democratization of the genome," Venter said.
Concerns persist. If people want to use their information in a
meaningful way, they will probably want to share it with their
physician, said Francis S. Collins, director of the National Human
Genome Research Institute and a leader of the Human Genome Project,
completed in 2003, which cobbled together the first complete human DNA
sequence. And medical records are not totally opaque to prying eyes.
"People ought to think about that," said Collins, who confessed to
feeling both excited and concerned about consumer-driven genomics. "We
don't want employers to use genetic information to make hiring or firing
or promotion decisions on the basis of fears that an employee may get
sick." It is "enormously frustrating," he added, that bills prohibiting
genetic discrimination have been passed by both chambers of Congress but
are stalled because of an unrelated power struggle on Capitol Hill.
One subtle but potentially insidious downside of the new trend, Collins
said, is that people may slip into the DNA-deterministic thinking that
fed the early 20th-century eugenics movement, in which people with
"undesirable" traits underwent forced sterilizations.
"I very much worry that all this emphasis on a 'gene for this' and 'gene
for that' raises the risk that people will conclude that that's the
whole story," Collins said. Instead of empowering people to make
healthful changes in their lives, that could simply make them "more
fatalistic," he said, "in which case, what's the point?"
At the same time, he and others acknowledged, by identifying people with
similar genes but different health outcomes, genomics companies'
databases could help scientists identify the specific environmental
influences -- diet, exposure to certain chemicals, even stress or abuse
-- that interact with particular genes to make people into the
individuals they are.
"By disentangling the genetics, we'll get a much deeper appreciation of
both nature and nurture," said Church, the Harvard geneticist. "I would
be surprised if it didn't change our view of ourselves pretty
significantly."
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Johns Hopkins Berman Institute of Bioethics
| 100 North Charles, Suite 740
Baltimore, MD 21201 |
Office: 410-516-8500 |
Fax: 410-516-8504
© Copyright Johns Hopkins Berman Institute of Bioethics
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