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.
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