Tuesday, July 6, 2010

The Human Genome: A False Promise?

Genomic medicine, also known as personalized medicine, has become a universal buzz word, perhaps to attract more dollars to biomedical research. Only two months ago the new Director of the National Institutes of Health and former Director of the National Human Genome Research Institute Francis Collins announced the age of personalized medicine in the national media. In short, the sequencing of a person's genome will become less costly and available to everyone in the near future. Based on our genetic makeup, doctors will be able to treat prospective illnesses before they have a chance to afflict us. This country's biomedical research establishment invested billions of dollars in this idea.

Then, three weeks ago the new Director of the National Cancer Institute, scientific adviser to the president, and former Director of the National Institutes of Health Harold Varmus stated in the news that human genomic research is only useful to science at present. Nicholas Wade's article entitled "A Decade Later, Genetic Map Yields Few New Cures" and Andrew Pollack's article entitled "Awaiting the Genome Payoff" were published in The New York Times on Jun. 12 and 14, 2010, respectively, in the wake of what must seem like an about-face at the highest level of leadership in U.S. biomedical research. In both articles, the short-term prospects of personalized medicine seemed less certain.

Alas, understanding the human genome in health and disease is doubtlessly spawning important progress on numerous fronts in medicine. The discovery of modified genes in cancer cells and the proteins they encode is being used to develop novel chemotherapies. In particular, drugs for targeted therapies are currently being tested that may counteract the averse effects of modifications in genes KRAS and BRAF in a variety of cancers. In yet another advance, we may be able to adapt our diet to our personal genetic makeup with a better promise of controlling our weight, diminishing our risk for cardiovascular disease.

By contrast, uncovering the genetic bases of mental disorders like autism and schizophrenia has proved difficult. The findings to date suggest that such disorders are the result of highly complex interactions of a multitude of molecular signaling pathways involving many genes. Whether genomic research can benefit therapies to treat such mental disorders remains to be seen.


  • Recent studies uncovered a mutation of the gene ALK in tumor tissue of people with non-small cell lung cancer. ALK encodes the enzyme anaplastic lymphoma receptor tyrosine kinase. The fusion of this gene with the gene EML4 renders a tyrosine kinase persistently active that prevents programmed cell death from curtailing neoplastic growth.  Aaron Saenz describes a potential drug treatment using this important finding in his post entitled "Crizotinib Targets Gene To Stop Lung Cancer Tumors in 90% of Treated Patients" on Singularity Hub dated Jun. 9, 2010. No doubt, the development of drugs specifically targeting such cellular malfunction is highly desirable. However, less than four percent of lung cancer patients carry the EML4-ALK fusion, and the drugs tested to date only slow the progress of the disease. Personalized medicine definitely needs more research, time and money to come to fruition (08/05/10).
  • Peter J. Boyer wrote an informative essay with the title "The Covenant" about Francis Collins and his goals as the new Director of the National Institutes of Health. The essay was published online Sep. 6, 2010, in The New Yorker (09/10/10).
  • Because targeted therapies are expensive and may produce varying results, we may be confronted with difficult choices. This conversation between Paul Raeburn and Leonard Fleck entitled "Looking at the Ethics of Personalized Medicine" broadcast yesterday on NPR's Science Friday informs us about the dilemma inherent in this issue (09/25/10).
  • Julie Steenhuysen's report with the title "Gene tests inadvertently exposing cases of incest" posted yesterday on Reuters provides a striking example for personalized medicine's potential of uncovering information that raises ethical questions (02/11/11).
  • According to Sharon Begley's article on Reuters with the title "DNA pioneer James Watson takes aim at 'cancer establishments'" published online today, the co-discoverer of the molecular structure of DNA, Nobel-laureate, and eminent proponent for the human genome project J.D. Watson now believes that our greatest hope for fighting cancer is the use of antioxidants. That is, boosting antioxidants may help prevent cancer and blocking their actions in tumor cells may help with a cure. His voice lends credence to those who cautioned against excessive expectations in the promise of personalized genomic cancer medicine (01/09/2013).
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1 comment:

  1. Stem cell research was the advancement before genome analysis. It still hasn't found its place in human therapy. Both of these fields are where grant money is available and they will be studied for this reason alone. Meantime, a simple therapy using monoamine (dopamine and serotonin) precursors is being ignored.

    We are just as just as likely in the 21st century to ignore new paradigms as we were in the 17th. This 68 year old MD was punished far more severely for suggesting a new treatment for mood disorders and addictive craving than Galileo himself.