The quandary of personalized medicine-unlocking your personal genome

The quandary of personalized medicine, unlocking your personal genome. By Kristin Tangen-Steffins

It is now accessible for the average person to explore their personal genome to determine potential genetic health risks.  It was not long ago that sequencing a single gene would constitute an entire Ph.D. thesis. Now thousands of genes (or portions of) can he sequenced in a matter of hours.  DNA sequencing has ridden on the coat tails of rapidly advancing computer and nano technology.

Limited genetic testing has been available for some time for a handful of conditions.  People with familial backgrounds may have pondered the conundrum of whether they wanted to know if they were at risk for a disease by possessing a mutation in a particular gene and if they did know how would they react?

Similarly, expectant mothers and fathers are presented with the choice of whether or not to have genetic testing performed on their unborn child. Again apprehension may surface for ethical reasons of what the choice would be if there is a chromosomal abnormality. Would they rather leave it out there for the universe to decide? 

We are now at the point in the genome era where we can ask much more broad stroked questions.  Now the average person can ask “Do I want to know my genetic repertoire or fingerprint?” Many commercial companies now offer these services.  A client simply sends them a sample of a swab from inside their cheek as part of a company produced DNA testing kit. The company uses DNA microchips (laser based DNA sequencing) to test the client’s sample for a variety of characteristics. The results are analyzed based on available scientific findings then send on to the client.  

Scientists can now test for multiple markers (informative regions of targeted genes) representing a plethora of conditions both health specific and curiosity driven.   Below are some well warranted questions that one may ask themselves before considering subscribing to personalized medicine. 

1.      If a client is predisposed to a condition can they do something pre-emptive about it?

2.      What is the chance of disease if there is a particular mutation in their genes? Does the mutation indicate a higher risk (if so how much)? E.g. brca genes in breast cancer or is the condition inevitable e.g. Huntington’s disease.

3.      How serious is the condition? 

4.      If the condition is severe will it negatively affect their life to know they are at risk while they are presently healthy and may be for many years? In fact, the condition may never manifest.  We now know the serious health implications of worry, stress and a negative attitude on our mental and physical health including the immune system.

5.      Will knowing increase someone's risk through self-fulfilled prophecy?  I.e. will they worry themselves sick?

6.      Will it risk their health or life insurance? We hope soon this will not be an issue, as experts and citizens are presently lobbying to make it illegal to discriminate based on genetic predispositions to conditions.

7.      How drastic is the preventative intervention should they prove to be at risk? 

These are all good questions. One must weigh the risks and benefits, then make an informed personal choice. If someone is considering personal genetic testing and has concerns or would like clarifications it would be wise to talk to a genetic counselor.

The choice to use personalized medicine may not be for everyone; however, there already have already been lives saved. For example, disease has been avoided in cases of familial inherited cancers where someone predisposed (possessing the mutated gene) took preventative measures e.g. mastectomy or the disease was caught early due to increased vigilance as a result of knowing they were at high risk. There were cases prior to the availability of testing where people from an affected family had taken drastic irreversible measures such as mastectomy to later find out they did not have the aberrant gene. Here you can see an example where the risk of getting tested would definitely be worth the benefit.

The number of markers (conditions and traits) tested is sure to increase at pace with the new genetic discoveries adding to the personal genome repertoire. If you are interested in further delving into the subject of personalized medicine a fascinating read is a book by Francis Collins, The Language of Life: DNA and the Revolution in Personalized Medicine (HarperCollins, 2010).  Dr. Collins was the leader of the public human genome project and is the presently the director of the National Institutes for Health in Bethesda, Maryland.  This book is informative, factual, based on real case studies and above all entertaining. 

For those who prefer to leave it up to nature, good on you.  And for those who would rather be proactive or are just intensely curious, what seemed to be science fiction a short time ago is now within our grasp.