Alberta Innovates- Health Solutions

The face of medicine will be radically changed, says Dr. John Bell, due to genetics research.

Dr. Bell, a world authority on genetics research and a panelist at the recent Commercialization of Genetics Research conference held in Edmonton, describes the advent of human genetics as one of the major breakthroughs in science, akin to nuclear physics earlier in the century and, most recently, the invention of the micro-processor in the electronics industry.

Although the Human Genome Project will identify every gene, understanding the function of each one will take years. Genes are made up of sequenced pairs of four essential nucleic acids (often stretching into the thousands of pairs). Scientists not only have to learn how a normal gene works but also what the effects are on the whole organism if even one pair of nucleic acids in a gene is missing or duplicated or damaged. It is this specificity that will lead to big changes in how medicine is practiced, says Dr. Bell. Medical care will take a more mechanistic approach, that is, disease will be understood by genetic analysis, and our approaches to treatment will change accordingly. "No longer will we define disease based on what the patient complains of or what he or she looks like. We will define disease based on the biochemistry that underlies it."

Our knowledge of the genetic causes of disorders will lead to specific drugs and targeted therapies. It will also show which people do not respond to standard drugs, and why, eliminating the risk of adverse side effects and leading to the development of more effective drugs.

Genetics isn't the whole story behind human health however. Only a few diseases-Huntington's disease, cystic fibrosis, for example-are known to be caused solely by a single gene disorder. For Dr. Bell, the fundamental difference between single-gene diseases and most other conditions means we have to approach the ethical issues of each differently. In cases where genetics is all that is required to develop the disease, Dr. Bell feels that the ethical issues associated with them are best addressed by clinical geneticists who have been grappling with these concerns for a long time.

Most common diseases result from a combination of errors in more than one gene and from environmental factors. "Genetics testing could identify risk thresholds in populations. We can then refine health care so that its application is most effective to the people who need it most. With diabetes, for example, it could be that a number of people have the disease, which is essentially too much sugar in the blood. But how each person came to have too much sugar in the blood may vary greatly from one to the other, because they have different genes with different biochemical pathways. So the day will come when instead of saying, 'You have diabetes,' your doctor will say, 'You have Type II-B diabetes,' and that will lead to a whole series of decisions about your treatment."

Hand in hand with the application of genetics in health care come commercial and ethical issues. There are concerns about widespread genetics testing, especially about possible discriminatory use of results. Then too, is the issue of skewed ethics in academic and private partnerships. Dr. Bell offers, "Most of the commercial interest in genetics is driven by the idea that there will be new targets for drugs, and they need the skill sets of academic scientists, who in turn need the technical platforms and clinical-trial potential of private industry. The great challenge for academic scientists is to understand how they can interact with these huge and powerful commercial forces in a productive way that does not compromise their academic positions."

A former Edmontonian, Dr. John Bell holds the Nuffield Professorship of Clinical Medicine at the John Radcliffe Hospital in Oxford, England. He serves on AHFMR's Scientific Advisory Council.

Nuffield Department of Clinical Medicine, Oxford, England website: http://www.jr2.ox.ac.uk/ndm/index.htm