A costly way to save

Whole genome sequencing has officially entered the medical mainstream and kicked off an era of truly personalized medicine.

California-based Illumina is now selling high-throughput sequencing equipment that will deliver a patient's entire genetic blueprint for about $1,000. That's down from about $2.7 billion for the first human genome just 11 years ago.

Whether the technology can reduce health care costs depends on how we choose to use the information and whether the targeted treatments promised are affordable.

Brad Popovich, chief scientific officer of Genome British Columbia, foresees a time in the not-too-distant future when all babies will have their genome sequenced at birth, much as we do now with blood tests for a handful of common and rare diseases. As many as three million Canadians could develop a rare disease during their lifetime and many of those need never become ill.

"There are targeted therapies or lifestyle changes you can make to modify that risk," he said.

However, people given information about their genetic risk for disease tend not to change their lifestyle, diet or even stop smoking, according to several recent studies of patient behaviour.

That means the value of whole genome sequencing, in terms of individual behaviour, is conditional on developing techniques to get people to change, wrote the authors of an article published in the journal PLOS Biology.

Whole genome sequencing could replace many of the laboratory tests that the medical community has relied on to diagnose illness for decades, according to Popovich.

"Rather than running a dozen tests to track down exactly what illness they are dealing with, doctors may soon be able to replace nearly all of them with a single test for everything," he said. "Right now the system is spending money, money, money trying to figure out what's going on."

Sometimes there are several drugs that will work against an illness, but one may be more effective against a particular genetic variant of the illness. Similarly, one particular drug may work better in patients with a particular genetic profile. Genomics helps remove the guesswork, according to Larry Lynd, a pharmaceutical sciences professor at the University of B.C. and a member of the B.C. Ministry of Health expensive drug and rare diseases advisory committee.

Continue reading here:
A costly way to save