In a dramatic breakthrough, it appears an organic cause of schizophrenia has at last been found. Neurologists have long known that, biologically speaking, this devastating disease has four distinguishing markers.
It develops early in life, usually appearing in the late teens to mid-20s. It leads over time to diminished brain mass (visible in patient autopsies). It tends to run in families, though not always. And the human immune system is somehow implicated.
But beyond this elementary understanding, clinical science had made scant progress of late. No one could come up with a causal mechanism that connected all the dots.
Certainly there have been advances in treatment. Anti-psychotic drugs have made the disease more manageable 鈥� up to a point. Yet even the most powerful medications suppress only the symptoms. The underlying cause remains untouched.
But a groundbreaking study published in the journal Nature has revealed a genetic aberration that leads to schizophrenia.
As children grow to adulthood, their brains become larger, and neural pathways expand rapidly. However, this developmental phase ends in the 20s. At that point, the brain begins to discard cells and pathways that are no longer required. (That鈥檚 one reason so many mathematicians do their best work before 30.)
The Nature study showed that our immune system is responsible for this 鈥減runing鈥� of redundant tissue in healthy adults. More important, however, it also identified a genetic mutation that can disrupt the process, causing it to run amok and destroy essential brain matter. At one stroke, all of the markers for schizophrenia have been explained.
That doesn鈥檛 mean a cure is at hand. Other factors (both genetic and environmental) could play a role. It will take years to exploit this knowledge fully.
Even so, a major step forward has been made. And it was accomplished by means that were impossible until recently.
Using high-performance computers, the research team mined huge quantities of data from investigations stretching back over years. None of these individual studies had isolated the mutation 鈥� they were too small to succeed. The needle in the haystack was found by combining them.
This also throws new light on a similar opportunity in our own backyard. B.C. has some of the most comprehensive medical records in North America. And these records cover the whole population: Rich and poor, healthy and ill 鈥� offering a doorway to research unavailable elsewhere.
For example, the schizophrenia study analyzed information from 64,000 patients. But the B.C. Health Ministry has files on a billion prescriptions in its Pharmanet archive.
True, there have been instances over the past few years when the collection and handling of medical records created controversy in our province. The same has happened in other jurisdictions. We could be forgiven for wondering whether retaining such sensitive information is in our best interest.
However, as the B.C. privacy commissioner noted, there are two risks to the use of health data: The risk of privacy violations and the risk of a 鈥渇ailure to discover.鈥�
The first of these dangers can be avoided if medical records are stored and used in ways that inspire public confidence. Fortunately that is a manageable challenge. The means to protect privacy already exist.
No doubt these safeguards demand constant diligence and attention to detail. Yet the effort is worth it.
For the second risk 鈥� failure to discover 鈥� is one that, increasingly, comes with a price.
As the schizophrenia study shows, medical science no longer depends on a sudden flash of inspiration. Rather the answers are hiding in plain sight, in files we already possess.
What we require is not brilliance, but the discipline to handle this information with care.
