Wondering when you will get the call from your doctor’s office to get your DNA sequenced?   This was the expectation after the $3B human genome project wrapped up in 2003 Even as you wait for this call from your doctor, the human genome, the human genome project and its progeny are on a rapid trajectory to improve health care through precision diagnostic tools and personalized medicine.

Here are four examples of how fast, low cost DNA sequencing and new treatment discoveries are already improving health care:

  1. Instead of years, even decades without a diagnosis, patients with rare diseases – each caused by a single gene mutation that might affect only a few patients worldwide – can now get a precise understanding of the genetic basis of their disease and, for some, even treatment. And rare diseases are not so rare: found in about three percent of people, they cause 35% of deaths in the first year of life.
  2. Cystic Fibrosis (CF) is a common, disabling and deadly single gene disorder affecting one in 3,600 children in Canada. Excitingly, there are newly approved drugs that treat the specific genetic variant found in 70% of CF patients.
  3. We now understand that cancer is a disease of many “driver” mutations, creating mixed and changing populations of cells that can evade treatment. We are learning how to apply new drugs that target these mutations to shift cancer to a chronic or even curable condition.
  4. New and highly effective treatments for the most common type of Hepatitis C, a virus predicted to kill 32,000 Canadians over the next 20 years, may lead to an end to this disease.

Challenges remain

Many challenges remain: the high cost of newer targeted drugs, implementing complex testing and helping patients and health care workers understand this new technology are examples. As well, common chronic diseases like diabetes and cardiovascular disease have proven quite difficult to unravel. Instead they are overwhelmingly influenced by a healthy diet, exercise and adequate income. DNA does not always play first fiddle.

We do, however, have an astonishing insight into the molecular basis of disease. From this we are decoding our genetics to better prevent, diagnose and treat disease. 

When might personalized medicine come into your day-to-day life? You can look forward to genetic tests that predict how you respond to drugs, to avoid trial and error prescribing. This is a one-time test with lifelong value.

Your doctor may be calling you soon.