Dennis.Raphael at mail.atkinson.yorku.ca
Fri Jan 4 11:40:29 PST 2002
Toronto Star -- Judy Gerstal Jan. 4, 01:19 EDT
Mapping human genes has few human benefits
[consider sending her an email thanking her for covering these issues -- her
address is below]
There's no doubt that we'll hear more about the human genome project in 2002,
a process that one scientist compared to "reassembling the complete text of the
Bible from 10 copies that have been torn to shreds."
It is, we've been told, a breakthrough of incomparable significance. It's been
reported as the medical story of our time. Unquestionably, the genome project,
described as the code of life or the hand of God, is valuable and meaningful.
Decoding the universe, whether by delving into DNA or scoping distant galaxies
or soaring to sister planets, defines not only our intellectual curiosity and
therefore our very humanness but also our future. However, mapping the human
genome is no more of a solution to many of the medical and health problems that
now plague us than is a trip to Mars.
Knowing the map of the gene simply doesn't seem to make much difference. It
has not translated into great therapeutic advances. The first mapping of a
single gene disease
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? cystic fibrosis ? was identified 10 years ago by Lap-Chee
Tsui and John Riordan at the Hospital for Sick Children. Despite the promise
that this would lead to a cure and the disappearance of the disease, and despite
millions of dollars in research spent since then, no effective treatment has
been developed, gene modification has not been successful, and cystic fibrosis
still occurs about as often as before the discovery.
The same is true of the identification of a gene associated with the tendency
to have rheumatoid arthritis and with a gene characterized as an
anti-arthritis gene. The most effective forms of treatment for the disease are
still anti-inflammatories, methotrexate and steroids, medications that pre-date
the identification of these genes.
In fact, the new genomic information doesn't even tell us much about
"The reaction to the discovery that human beings do not have much more genomic
information than plants and worms has been to call for a new and even more
grandiose project," evolutionary biologist Richard Lewontin wrote in The New
York Review Of Books in July. "It is now agreed among molecular biologists that
the genome was not really the right target and that we now need to study the
`proteome,' the complete set of all proteins manufactured by an organism."
And journalist Jerome Burn, writing recently in the Financial Times, questions
the hype surrounding the human genome sequencing and the way it is being used.
"The new genetics is a billion-dollar project driven largely by drug companies,"
Burn suggests that it might be relevant to ask whether the most cost-effective
way of using genetic information is simply to develop new drugs. "Could some of
the money be better spent looking at the way nutrition and vitamins can target
the same pathways that drugs are aimed at?" he asks. "Should more research be
devoted to the environmental factors that change the way various genes behave?"
He gives the example of the genetic predisposition to high cholesterol.. It was
not a risk factor in the 19th century but
became one in the first half of the 20th century. "Knowing what made the
difference ? diet? a chemical? ? could help save lives, but genetic research of
that sort is of little interest to pharmaceutical companies."
Of even less interest to pharmaceutical companies that support most medical
research are the psychosocial factors that profoundly affect health, disease
and mortality. Yet researchers reaching across interdisciplinary lines and
stretching past the biomedical model are piling up evidence proving that health
status is directly linked to income, education and social status.
A U.S. study 15 years ago in the Journal Of Chronic Diseases revealed that most
chronic diseases are reported more frequently by people with less than 12 years
of formal education in the 18- to 64-year-old American population.
Isn't it ironic that we've known for 15 years that more years of formal
education will help to prevent chronic disease and yet it's desperately hoped
that an important result of the billion-dollar genome project in some distant
future will be to prevent chronic disease?
Throughout the '90s, socio-economic and psychosocial factors began to be
recognized, not just by social scientists and epidemiologists but also by
enlightened physicians, as crucially influencing the onset, course and outcome
Some of these factors: poverty, literacy, nutrition, access to medical care,
learned helplessness, social barriers.
Studies in this week's editions of medical journals corroborate the evidence.
Middle-aged men who have symptoms of psychological distress, such as depression
and anxiety, are more than three times likely to have a fatal stroke than
middle-aged men who are not depressed, according to research reported in Stroke:
Journal Of The American Heart Association. And the British Medical Journal
reports a study showing that lack of high school education resulting in income
inequality is a powerful predictor of mortality in U.S. states.
While we wait for the completion of the genome project and then perhaps the
proteomic project, while we wait for the
research to be translated, perhaps, into treatment and maybe, eventually,
prevention, wouldn't it be wonderful if the
medical/political establishment began to act on the knowledge we already have?
Instead, we are subject to what Lewontin calls "a pervasive error." In his
just-published collection of essays, "It Ain't
Necessarily So: The Dream of the Human Genome and Other Illusions," he refers to
"the pervasive error that confuses the genetic state of an organism with its
total physical and psychic nature as a human being."
jgerstel at thestar.ca
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