Saturday, December 06, 2014

Some history of hype regarding the human genome project and genomics

Just taking some notes here - relates to a discussion going on online.  Would love pointers to other references relating to hype and the human genome project (including references that think it was not overhyped).  I note - see some of my previous posts about this issue including: Human genome project oversold? sure but lets not undersell basic science and various Overselling Genomics awards. 

Here are some things I have found:

White House press conference on announcing completetion of the human genome
Genome science will have a real impact on all our lives -- and even more, on the lives of our children. It will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. In coming years, doctors increasingly will be able to cure diseases like Alzheimer's, Parkinson's, diabetes and cancer by attacking their genetic roots. In fact, it is now conceivable that our children's children will know the term cancer only as a constellation of stars.
Collins et al. New Goals for the U.S. Human Genome Project: 1998–2003
The Human Genome Project (HGP) is fulfilling its promise as the single most important project in biology and the biomedical sciences— one that will permanently change biology and medicine.
Human Genome -The Biggest Sellout in Human History

The Human Genome Project: Hype meets reality

NOVA: Nature vs. Nurture Revisited
After a decade of hype surrounding the Human Genome Project, punctuated at regular intervals by gaudy headlines proclaiming the discovery of genes for killer diseases and complex traits, this unexpected result led some journalists to a stunning conclusion. The seesaw struggle between our genes (nature) and the environment (nurture) had swung sharply in favor of nurture.

The human genome project, 10 years in: Did they oversell the revolution? in the Globa and Mail by Paul Taylor referring to: "Deflating the Genomic Bubble"

Also see Genomic Medicine: Too Great Expectations? by PP O Rourke

Also Has the Genomic Revolution Failed?

And Human genome 10th anniversary. Waiting for the revolution.

Science communication in transition: genomics hype, public engagement, education and commercialization pressures.

The Medical Revolution in Slate.

A Decade Later, Genetic Map Yields Few New Cures in the New York Times.
In announcing on June 26, 2000, that the first draft of the human genome had been achieved, Mr. Clinton said it would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.” 
At a news conference, Francis Collins, then the director of the genome agency at the National Institutes of Health, said that genetic diagnosis of diseases would be accomplished in 10 years and that treatments would start to roll out perhaps five years after that.

NNB report: Ten years later, Harvard assesses the genome map where regarding Eric Lander:
At the same time, , he said genomic research has “gone so much faster than I would have imagined.” He cited " an explosion of work that will culminate, I think in the next five years, in a pretty comprehensive list of all the target that lead to different kinds of cancers and give us a kind of roadmap for finding the Achilles heel of cancers for therapeutics and diagnostics."
while at the same time he blamed the press for the hype

From Great 15-Year Project To Decipher Genes Stirs Opposition in the Times June 1990
'Our project is something that we can do now, and it's something that we should do now,'' said Dr. James D. Watson, a Nobel laureate who heads the National Center for Human Genome Research at the National Institutes of Health. ''It's essentially immoral not to get it done as fast as possible.''
  • Note the article has many complaining about the hype in the genome project even then ..

From SCIENTIST AT WORK: Francis S. Collins; Unlocking the Secrets of the Genome
And, Dr. Collins adds, there is nothing more important in science and medicine than the project he heads
Dr. Collins predicts that within 10 years everyone will have the opportunity to find out his or her own genetic risks, to know if cancer or heart attacks or diabetes or Alzheimer's disease, for example, lies in the future. 

From READING THE BOOK OF LIFE: THE DOCTOR'S WORLD; Genomic Chief Has High Hopes, and Great Fears, for Genetic Testing June 2000 in the NY Times

The story goes through some predictions Francis Collins made for the future in a talk.  These included:

  • BY 2010, the genome will help identify people at highest risk of particular diseases, so monitoring efforts can focus on them.
  • In cancer, genetic tests will identify those at highest risk for lung cancer from smoking. Genetic tests for colon cancer will narrow colonoscopy screening to people who need it most. A genetic test for prostate cancer could lead to more precise use of the prostate specific antigen, or P.S.A., test by identifying those men in whom the cancer is most likely to progress fastest. Additional genetic tests would guide treatment of breast and ovarian cancer.
  • Three or four genetic tests will help predict an individual's risk for developing coronary artery disease, thus helping to determine when to start drugs and other measures to reduce need for bypass operations.
  • Tests predicting a high risk for diabetes should help encourage susceptible individuals to exercise and control their weight. Those at higher risk might start taking drugs before they develop symptoms.
  • BY 2020, doctors will rely on individual genetic variations in prescribing new and old drugs and choosing the dose. Pharmaceutical companies will take a second look at some drugs that were never marketed, or were taken off the market, because some people who took them suffered adverse reactions. It will take many years to develop such drugs and tests.
  • Cancer doctors will use drugs that precisely target a tumor's molecular fingerprint. One such gene-based designer drug, Herceptin, is already marketed for treating advanced breast cancer.
  • The genome project holds promise for the mental health field. ''One of the greatest benefits of genomic medicine will be to unravel some biological contributions to major mental illnesses like schizophrenia and manic depressive disease'' and produce new therapies, Dr. Collins said.


  1. Collins 2001, Congressional Testimony, : "... The rapid advances in the Human Genome Project and the study of the role genes play in health and disease are providing powerful tools for us to understand the instructions in our genetic material. We are daily gaining insights into the mysteries of the human cell, how it works, and why sometimes ... it doesn't. Initially these discoveries about genetic diseases related to relatively rare conditions, but increasingly now the same powerful approaches are uncovering hereditary factors in heart disease, diabetes, Parkinson's disease, bipolar illness, asthma and other common illnesses of our society. These revelations hold within them the promise of a true transformation of medical practice. Quite possibly before the end of the first decade of this new millennium, each of us may be able to learn our individual susceptibilities to common disorders, in some cases allowing the design of a program of effective individualized preventive medicine focused on lifestyle changes, diet and medical surveillance to keep us healthy. This will also enable us to focus our precious health care resources on maintaining wellness, instead of relying on expensive and often imperfect treatments for advanced disease.

    These same discoveries about genetics likely will lead us to predict who will respond most effectively to a particular drug therapy, and who may suffer a side effect and ought to avoid that particular drug. Furthermore, these remarkable advances are expected to lead us to the next generation of designer drugs, focused in a much more precise way on the molecular basis of common illnesses, giving us a much more powerful set of targeted interventions to treat disease."

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  3. The coverage outraged Eric Lander, who was one of the leaders of the Human Genome Project and now directs the Broad Institute, a leading biomedical-­research center that is a collaboration of Harvard University and MIT. “I’d like to see a quote where I ever hyped it,” says Lander. “I’m on record saying this is going to take a long time, and that the next step is to find the basis of disease, and then you have to make drugs. I said this is going to help our children’s children. Going from the germ theory of disease to antibiotics that saved people’s lives took 60 years. We might beat that. But anybody who thought in the year 2000 that we’d see cures in 2010 was smoking something.” Forgot to add link:

  4. From:
    Eric Lander: It will. That's not to trivialize in any sense the work that has to come. In some sense, the description of genomes is just the start. All it does is it lays out the 100,000 components on the surface of the table. It doesn't tell us how they act. It doesn't tell us their roles. It doesn't tell us the circuits they build. It doesn't tell us the variation in the population. In some sense, it will be seen not as the culmination that the media today wants to associate with the Genome Project, but as barely the start. Indeed, I don't view the sequencing of the human genome as itself a goal. I view it as the starting line, not the finish line in any particular race.

  5. from bbc 1999:
    "Identifying the three-billion-long sequence of chemical markers which make up the human genome will be an astonishing achievement. But in a sense, it is only the beginning.

    The "post-genome" science will be to work out what each of the mapped genes actually does in the body. Scientists only understand the function of a relatively tiny fraction of our genes at present."

  6. NYTimes coverage on rough draft

    Understanding the human genome is expected to revolutionize the practice of medicine. Biologists expect in time to develop an array of genomic-based diagnostics and treatments tailored to individual patients, some of which will exploit the body's own mechanisms of self-repair. The knowledge in the genome can also be used in harmful ways, particularly in revealing patients' disposition to disease if their privacy is not safeguarded, and in provoking discrimination.

  7. Only 14.4% of british coverage of the hgp used therapeutic implications as the dominant theme:

    1. Great find with this article --

      Whether it was the dominant theme or not, it was a major theme in more than 14% and look at some of those quotes from the section on therapeutic implications

      “Scientists have finally cracked the human body’s genetic code – and believe it could lead to cures for EVERY disease”, in ‘GENE CODE COULD BEAT ALL DISEASE’ (The Sun, 26/06/00, p.12, emphasis in original).

      “Medicine in the 21st Century will be revolutionised by the decoding of the human genome – the 3 billion letters in the ‘Book of Life’”, in ‘DISCOVERIES BRING IN AGE OF DESIGNER MEDICINES: HEALTH’ (The Independent, 27/06/00, p.4).

      “Cancer is one disease that has already undergone a minor revolution in the dawn of the new genetics”, in ‘WE NOW HAVE THE KEY TO UNLOCK THE CAUSES OF CANCER: TREATMENTS’ (The Independent, 27/06/00, p.4)



      And also look at the quotes in other parts of that article

      “It has been called the scientific project of the millennium – biology’s equivalent of landing a man on Mars”, in ‘CRACKING THE SECRET CODE THAT MAKES US WHAT WE ARE: GENETIC BREAKTHROUGH HERALDS CURE FOR HUNDREDS OF DISEASES’ (Daily Express, 26/06/00, pp.18-19).

      “It is a staggering achievement. For the first time in history, we are able to read our own draft of genetic instructions”, in 'A DISCOVERY THAT WILL TOUCH THE LIFE OF EVERY PERSON ON THE PLANET' (The Independent, 27/06/00, p.1)

      ‘THE BREAKTHROUGH THAT CHANGES EVERYTHING: INTRODUCTION’ (The Guardian, 26/06/00, Tabloid Supplement, p.3)

      (though some were tempered .. ‘

      BENEFITS ‘SOME DISTANCE IN THE FUTURE’’ (The Times, 27/06/00, p.4))

      ‘I HATE TO BE A SPOILSPORT, BUT DON'T GET SO EXCITED OVER THE HUMAN GENOME PROJECT’ (The Independent, 29/06/00, Review: p.4, emphasis in original)

    2. Although also see Mapping the human genome: An assessment of media coverage and public reaction which has some useful additional information.

      "In the discussions of medical implications, 82% of television and newspaper/wire reports referred to the ability to predict disease, 74% talked about disease prevention, and 78% discussed the potential for developing new treatments for disease as a result of mapping the human genome."


      "Overall, 71% (n = 163) of respondents said that the impact of the genome mapping on people will be the prevention and treatment of diseases. Of these 163 participants, 33% believed such medical advances are already occurring or will occur within the next 5 years, 23% said advances will occur within 5 to 10 years, and 24% said it will be 10 or more years before such advances take place. "