Thursday, August 28, 2014

Patient, diagnose thyself

Here's another interesting genomics-related article I came across recently - a patient more or less diagnosed herself by identifying the gene mutation that was making her sick.

The subject of the article is Kim Goodsell, an extreme athlete and mainstream dropout, who in her forties was diagnosed with a genetic condition called Charcot Marie Tooth (CMT) disease, a neurological disorder. She was already suffering from a heart problem, and was surprised when doctors didn't seem to think they were related.

Trying to find out more about CMT, Goodsell connected with online support communities for rare diseases like hers, but didn't find them scientifically rigorous enough. And so she took the rather unusual and certainly very demanding approach of diving headfirst into the available medical literature around CMT, educating herself in the basics of molecular biology along the way. By her own estimate, she spent "hundreds of hours" reading and understanding the literature, and condensed her observations into a thirty-page report.

Goodsell's research revealed an unexpected link to her two health conditions - a mutation in a gene called LMNA was probably responsible both for her CMT as well as her heart problems. However, this link hadn't been definitely proved at the time, and Goodsell's doctors were reluctant to order a genetic test to check her LMNA gene in the absence of conclusive evidence. Goodsell ended up paying for the test herself, and it turns out she was right. There was indeed a disease-causing mutation in her LMNA gene, and similar mutations were later reported in the medical literature as well.

What can we take away from this story? The first, of course, is admiration for Goodsell's persistence and determination. Right now, for the average patient to follow in her footsteps is very difficult, for two reasons: firstly, genetic testing is still pretty expensive, although costs are dropping (I discussed this briefly here) and secondly, most people wouldn't be able to replicate Goodsell's painstaking immersion into medical research papers. This would be a lot simpler if there were a central database that listed all gene mutations linked to a particular condition. This may also change in the future, with the National Institutes of Health developing an open database called ClinVar that aims to cover all disease-linked mutations. Similar efforts are also underway in India.

Another important point is that finding a disease-causing mutation does not mean that there will be a cure. Drugs whose mode of action is designed to target the effects of a specific genetic mutation are still small in number (Herceptin being a classic example) and it will take a while for research findings to translate into clinical therapies.

Finally, it isn't always possible to find a clean-cut link between gene and disease, and even if you do, it may merely offer the consolation of knowing you have a faulty gene without offering any ideas as to what, if anything, can be done to fix the problem.
Nonetheless, as genetic data becomes cheaper and easier to access, we can expect more patients to follow in Goodsell's footsteps. It will be interesting to see if the medical establishment can keep pace with the idea that patients will now, at least in part, be able to diagnose themselves.

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