Posted by John Ager on 23 May 2013.

Wouldn’t you know, the day after I post an entry about the marvels of genetic testing, Angelina Jolie puts an exclamation point on my point!

By now, I am sure you have heard that the actress has joined an ever growing population of women who have elected to undergo bilateral breast removal as a prophylactic preemptive measure to avoid cancer.  All women have about a 10% of developing breast cancer.  Some women, especially those with a family history of breast cancer (generally considered to be a significant risk factor), have been subjecting themselves to the procedure for a while now.  A family history alone, however, might not be enough to justify such extreme measures.  And, for women with no family history or other significant risk factors, breast removal as a cancer defense may have little of any appeal, especially when early diagnosis and treatment can be effective at overcoming the disease.

What probably made the decision easier for Angie is a test which revealed a specific genetic mutation which studies suggest increases the average woman’s risk for developing breast cancer to between 60 and 87%, regardless of other risk factors.  Those are not good odds.  Add in the Angie’s mother’s history of cancer and the decision starts to seems like a no-brainer.  Of course the test is not cheap – about $4,000, but is generally covered by private insurance for women who have a family history.

So where is this brave now world of genetics taking us?  Well, into the future of course.  More and more, physicians will rely on genetic analysis to assist with diagnosis and, more importantly, prevention.  The speed at which we can no sequence the human genome has gone from months to days in a very short period of time.  The problem – there is so much information, we can’t interpret it fast enough to make the best use of it.  Phoenix’s own TGen is tackling that problem and I bet that it won’t be much longer before reviewing a patient’s genetic code for important mutations become a routine part of any visit to a family practice physician.

Of course, like all medicine, there will be mistakes in the interpretation and application of genetic testing which could dramatically affect how a patient approaches medical issues which may affect them.  Imagine undergoing a painful and life altering treatment only to find out the patient’s genetic code did not match up with that of a tumor the way it was thought to.  While there appears to be more certainty in the results and application of genetic testing than in many other areas of medicine, the practical application of genetic advances to medicine, still has a long way to go.

Ultimately, the question might be where should we draw the line between trying to prolong life based on genetic information and living it?