HER NATURE HIS NURTURE

a his & hers weblog of worlds apart

Convention versus Possibility, and a recipe for change

I read an essay recently that presented the concepts of convention and possibility as eternally pitted against one another, on an inevitable crash course. I have been mulling over this concept for a while, and can’t seem to come up with a specific example to refute this theory. And, I actually think it is quite applicable to the current climate of medical genetics.

If I had to choose, I’d side with possibility every time. On the surface it seems that a career in genetics is perfect for someone of this philosophical bent: genetics and (perhaps more appropriately) genomics promise to bring to the world endless possibilities, pushing the frontiers of medicine and society as we know it.  But as with most areas of medicine, there are a significant number of conventions associated with the the day-to-day practice of medical genetics. This, coupled with the extreme focus on possibility in this field certainly creates a source of tension.

An example:

Convention An individual with specific symptoms is referred to genetics. After a complete work-up including medical history, family history and physical exam, the patient is offered genetic testing for one or more genes that are known to be associated with the suspected condition. The testing costs approximately $5500. The results are negative meaning that no disease-causing gene changes were identified. Because the sensitivity of the testing is not 100%, the negative results neither confirm nor rule out the diagnosis. The patient is told to recontact the genetics clinic in the next few years, as we anticipate we will have additional genetic testing to offer in the future.

Possibility For $1000 a healthy individual has their complete genome sequenced– essentially testing of every gene. A massive amount of data is generated, much of which we are not sure how to interpret. The individual may learn some useful information from their genome, and they may not. They may learn about their risks for diseases that they wanted to know about, and they may learn about risks that wish they didn’t know.

Technology, today’s largest driver of possibility, has a habit of challenging convention (sorry Andy Rooney!) I think this is why I am so intrigued by services such as online and DTC genetic testing, Hello Health and Webicina.

So, how do we avoid an inevitable collision in medical genetics?

Here’s a my proposal for a recipe for change:

2 parts genetics expertise
1 part technology
1 part ethics

mix together, and then stir in

a crumble of convention
a dollop of imagination
a spoonful of collaboration

Have a recipe you want to share?

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This entry was posted on May 8, 2010 by in Her Nature Posts and tagged , , , , , .

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