Friday, July 13, 2012

Deep Dive into Personal Genomics

What?  You are asking, I thought this was a healthy living blog.  Well, it is and one of my health practices is resilience by pursuing new information on topics of interests, for me that is personal genomics.

The next several postings will share media I've watched and reading I've done on the topic of genomics. Wait, don't check out, it really is fascinating!  There is a quiet revolution of consumer genomics building. And you can know enough to consider yourself an informed consumer.  Genomics is the study of  the human genome. This is important to you and I because ultimately we would like some say in what is known and done with our personal information, correct?

Do I have the gene for THAT? 
As I passed by the new release shelf of the fabulous Wheaton Public Library, my eye was drawn to a black and blue case.  Three months ago PBS-NOVA and the bioethics research Hastings Center released a film Cracking your Genetic Code. I was thrilled to indulge my inner geek, genetic geekiness that is.
Thanks to Hastings Center board member and Wesleyan president, Dr. Michael Roth’s blog I quickly found the accompanying sites for NOVA and The Hastings Center’s Help With Hard Questions supplemental material.  Don’t overlook the video clips shot at the film premier of a panel of the film’s geneticists and bioethicists (try saying that three time fast…) discussing our weakness for genetic determinism.

The message of the film implores the public to shift our view of genetics from the black/white, simplistic, deterministic view of genetic we tend toward (exploited by sound bytes of the popular press); to a more complex probabilistic view that incorporates statistics and risk elements.  Hum, what exactly does that mean?   Well that's what I want to explore further in future posts.  To start with, watch the film as its discussion of the gene popularly held responsible (a deterministic view) for late onset Alzheimer’s is informative regarding probabilistic genetics and illustrates how non-deterministic the “Alzheimer’s gene” is.

Some of the deterministic/probabilistic confusion is there are some genetic illnesses that if you've got the gene, you've most likely (leaving room for other factors)... got the illness.  The film shares moving stories of real people whose genetic based health conditions have been positively impacted by genetic research. Each gives us a tangible picture of what genomics means to the future of rare and acute health conditions.  Gene therapy for cystic fibrosis has had a breakthrough in the FDA approved Kalydeco (with a 6 figure annual pharmacy bill).  For each one of the 1200 CF patients for whom this drug could treat, and if they can afford it, suffering is averted.
Watch Cracking your Genetic Code…enjoy!