Medical schools need to prepare doctors for revolutionary advances in genetics


Human diversity did not appear to matter to modern medicine. At the time, the state of medical practice ignored the differences between individuals and between men and women.

This practice was reflected in how doctors were trained. They took courses in basic biology, biochemistry, anatomy and physiology. But genetics, the science of variation, was not a required course until recently.

Advances in genetics research have slowly transformed the practice of medicine. There has been a slow accumulation of a long list of diseases caused by variations in a single gene. Since the disease-causing variants generally occurred — with some exception — in low frequency, these diseases did not occupy the mainstream concern of the medical profession.

All this changed with the Human Genome Project (HGP). Completed in 2003, the sequencing of human genome pushed us into a new era of how genetic diseases would be defined, and how future health services would be delivered.

Medical schools need to do a lot better preparing future physicians and health professionals if the dreams of personalized medicine are to be realized.

Personalizing medicine

Personalized medicine means treating patients based on the individual characteristics of their DNA. The information can be used either in direct intervention, as in cancer treatment, or in predictive medicine.

Different specializations would require varying levels of proficiency: for example, family physicians would need a sufficient background in genetics, while oncologists would need in-depth education.

A doctor shows a patient information on a tablet
Family physicians will have increasing access to data and more detailed genetic information about their patients.

The HGP made two big promises. First, it promised personalized predictive medicine based on an individual’s genome sequences. Disease-causing mutations at different locations on a gene would be identified, and an overall personalized risk score would be calculated that would tell the individual his or her chances of developing that disease.

The second promise was to develop a better and faster cures for complex diseases such as cancer.

The letdown came when genomic studies showed that genes affecting complex diseases were potentially large in number and individually of small effect, and worse still, only a small number of all potential genes affecting a given disease could be identified.

Even more problematic, it turned out that all individuals sharing the same risk factor for a given disease did not develop the disease. This creates a problem for predictive medicine if scientists cannot link a disease to a gene with any certainty.

Evolution and genetic complexity

The uncovered genomic complexity of diseases was contrary to expectations of the Mendelian model, which did not account for genetic variations beyond “one gene — one disease.”

This is where the work my…

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