Technology leads to bold new directions in personalized medicine

Personalized medicine has taken a great leap forward with the advent of affordable whole genome sequencing and new ways to characterize other molecules in the body. Rather than looking for a handful of known bits of genetic code associated with disease, the genome reveals all three billion characters in the code.

A new generation of medical tests could soon provide a molecular snapshot of the body, the health of most every major organ and the presence of disease even in its earliest stages, according to Pieter Cullis, a professor of biochemistry and molecular biology at the University of B.C.

Cullis is among the featured speakers at a public forum on the power and potential of personalized health care at the Vancouver Public Library Wednesday) from 6 p.m. to 8 p.m. (Visit lsi.ubc.ca/talks for details and to RSVP.)

What can the genome tell us now?

Your genome is the blueprint for your entire body and it can reveal the risk of getting disorders such as heart disease by identifying disease-related gene variants in the patients genetic sequence. In the case of purely genetic disorders, such as Huntingtons Disease, it reveals the presence of disease before symptoms arise with absolute certainty. By comparing the genomes of healthy people and those of people with illnesses, scientists are detecting many previously unknown genetic variants related to disease, expanding the predictive power of genomics.

How are doctors using this technology?

By identifying who is at greater risk of disease, doctors can intervene sooner and patients can take steps in their personal conduct to manage or even prevent the onset of disease. By analyzing the genetic code of cancer cells doctors can target therapies precisely to the mutations present in a tumour and determine in advance if a patient is likely to have a life-threatening reaction to a drug before it is administered. Without the benefit of genomic analysis, nearly 75 per cent of the drugs administered to treat cancers fail to treat the patients specific illness.

Whats around the corner?

Analysis of the proteome the entire set of proteins that can be created by our genetic instruction set will potentially reveal the health of all of our organs in a single blood test. Our blood contains over 10,000 proteins many of which leach from our organs into the blood and can be used to assess the health of the organ and detect disease. Cancers shed proteins into the blood as well, which suggests such tools will have powerful early diagnostic value.

How is the practice of medicine going to change?

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Technology leads to bold new directions in personalized medicine