Cantor: why biomarkers will change medicine

In five years time, biomarker analysis will deliver inexpensive, reliable tests for disease prognosis, delegates at a joint BioMelbourne and Australian Genome Research Facility event heard last week.

Dr Charles Cantor, the chief scientific officer at US-based Sequenom, explained the concept of personalised medicine and what it means for drug development to the audience at the Bio21 Institute in Melbourne on Wednesday night.

He quoted Sidney Taurel, the CEO of US drug giant Eli Lilly & Co, who recently presented the company's new strategy in the phrase: "the right dose of the right drug to the right patient at the right time."

"If a CEO had made that statement two years ago, they would have been fired," said Cantor.

Cantor sees personalised medicine as the solution to rising overall individual health care costs and the unsustainable costs of bringing a new drug to market. Personalised medicine can decrease the overall cost of healthcare without decreasing its efficacy, he said.

Genetic testing is a "lousy business", Cantor said -- a person only needs to be tested once in their lifetime, because their genome does not change. But biomarkers -- the genes indicative of a biological condition or disease -- are "potentially a wonderful commercial opportunity" because they may need to be measured "over and over in a person's lifetime."

"Biomarkers may improve the efficacy of very powerful but rather noisy and expensive imaging tests," such as MRI, said Cantor.

Sequenom has conducted 12 studies over the past four years, surveying people's genomes in a number of disease areas to find genes responsible for human disease. By taking large populations, with hundreds of controls, 60 genes were found and then confirmed and replicated for being responsible for very small components of inherited disease.

While Cantor acknowledged that such studies were unlikely to rapidly lead to better therapeutics, they would lead to better diagnostics, he said. Cantor used the example of tests to determine whether a foetus is male, based on testing traces of the foetus' blood in the mother for Y chromosomes, and tests for paternal transmission of harmful alleles.

However, he said that the best biomarkers are likely to be in DNA methylation, where high methylation shows low expression of a gene and low methylation shows that a gene is expressed. Using a mass spectrometer, DNA methylation analysis of blood can be done cheaply and with high throughput, said Cantor.

"I'm very optimistic that given another five years we can probably start to deliver inexpensive, reliable tests for disease prognosis," he said.