Wednesday, February 15, 2012

Hypochondria in the Age of Personal Genetics

One of the things a young medical school student often experiences as they study new and oftentimes dire diseases is that they too soon sense the symptoms of some of them. Dengue Fever is often a common complaint in Boston, despite the fact that there never was any known such case.

Then there are CAT and MRI scans. One can guarantee that if one has one that the radiologist will find something, often something totally independent of any symptom you may have and that something will result in more tests. Most of which eventually will result in nothing too serious, for after all we all age.

Now for personal genomics, and Bloomberg provides and interesting piece on the discovery of genetic defects which may possibly at some future time result possibly in some disease which may possibly be serious.

The author states:

Then my eyes were drawn back to the top of the report and a variant called JAK2-V617F. I realized then that the list was ranked in order of medical importance. Clicking on an entry brought me to a few pages of medical information, and those pages were linked to published scientific and medical studies. I began reading about JAK2 more closely. 

This wasn’t good. The report classified the JAK2 variant’s clinical importance as “high,” and its impact as “well- established pathogenic,” meaning harmful. It’s seen frequently in people with rare “cancer-like” blood diseases. Indeed, as the report said, doctors test for the JAK2 variant to confirm cases of these diseases, called myeloproliferative disorders. 

Well, what does this mean?  Knowing this can one do something to mitigate the downside? What value is this knowledge? As one reads on it seems that there is nothing to do other than wait. So do we want to know this? Genetic diseases are often a small class of diseases and all too often we cannot do much. Take Marfan's syndrome, the enlargement of the aorta which often could rupture. On can diagnose it by looking at the patient, sunken chest, thin, long fingers etc. But so what, just watch, tell the patient, replace the aorta? How much, what cost, what risk?

The article raises a plethora of questions which it does not answer. It is more a personal journey into the hypochondria of disease awareness, which often is of little value.