What does the Human Genome Project have to offer us in terms of health and disease?

The effects of the Human Genome Project could be far-reaching, affecting disciplines as diverse as molecular medicine, microbial genomics, bioarchaeology, anthropology, the study of evolution and human migration, DNA forensics as a form of identification, agriculture, livestock breeding, and bioprocessing.

The Human Genome Project could be used to identify people who are at risk from certain diseases which can be appropriately dealt with before the disease ever develops. For instance, a woman at high risk for breast cancer may be instructed to undergo regular mammography at an earlier age than is recommended for the general population. She may be asked to modify her diet and undergo treatment with a new selective oestrogen receptor modulator (SERM) for breast cancer prevention. The emphasis of health care in the future will be on detecting risk for disease and developing strategies for disease prevention.

The Human Genome Project could have an enormous effect on drug therapy. For example, in the future it may be possible to readily identify patients who rapidly metabolise a drug so that a higher dose of the drug can be used. On the other hand, a person who metabolises a drug slowly or not at all will not be given the drug. At present, pharmacological approaches block tissue receptors or inhibit specific enzymes; in the future, specific genes could be turned either on or off.

There are also potential disadvantages, deriving from the fact that our predispositions to diseases will be known. If insurance companies are to be allowed genetic information then we risk creating a genetic underclass to which the cost of living will be much higher, even if they never develop the diseases that they are statistically more likely to be afflicted with. This is being countered in three stipulations that will probably become law after the completion of the Human Genome Project.

  • There must be equal access to genetic information and its applications.
  • Confidentiality is imperative.
  • The right to refuse genetic testing and the right to refuse to act on the information it reveals must be honoured.

    It is likely, however that the Human Genome Project will improve our lives. Genetic mutations will no longer be regarded simply as defects but will be used to understand the etiology of disease at the most basic level. Genetics might be incorporated into our lifestyle choices and cloning, a current controversy, may solve the shortage of organs for transplantation.