Wednesday, December 31, 2014

New Year, New Reseach!

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Many of you are familiar with the Human Genome Project, which was a major scientific undertaking aimed at mapping the genetic sequence.  According to the National Human Genome Research Institute, this has allowed us to create a blueprint of human life.  Thanks to this research, we are able to understand more about genetic causes of illness and disease on a daily basis.
The Wall Street Journal profiled a new research study that involves the genome sequencing of healthy newborns.  This government funded research program will be conducted at major hospitals across the country and will possibly lead to routine testing completed on every newborn.  In essence, this type of testing would eventually replace the current heel-prick test in which a small blood sample is taken to test for several dozen severe diseases.  The genome sequence test would test for many more illnesses, as well as provide a medical blueprint that could be used to tailor specific medicines and treatments in the future.
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Sounds amazing, doesn’t it?  In terms of scientific discoveries, this is about as good as it gets for the 21st Century.  Early identification of diseases could possibly save a child’s life, or at the very least minimize the life-long effects.  In one example, the genome testing allowed a small baby to keep a portion of her pancreas rather than having the entire organ removed.  This prevented, at least for the short term, a life dependent on insulin injections.
With all new medical advancements, however, we always have to consider the ethical and legal implications.  What are the costs involved?  Genetic sequencing costs about $1,000, as compared to a $25 heel prick.  It is possible that this up-front cost might save thousands of dollars in the future, but in a completely healthy baby, it might be considered extravagant.  Is it appropriate rationing of our health care dollars, especially in the age of government mandated health insurance coverage?  Will the outcome of this genetic sequencing lead to parents having to make difficult decisions based on situations that might occur in the future, such as an infant who is a carrier of a cancer gene?  Right now, many people are choosing to have drastic surgeries, such as mastectomies, when they find out they are carriers of the BRCA gene.  Would we want parents to be responsible for making those heavy decisions at such an early age?  On the legal side, should this be mandated, as the heel-prick test is currently, or should it be optional? 
All in all, medical discoveries always come with excitement, as well as concerns.  With all new scientific research the most important tool is information.  Be educated, so that you can make the best, informed decisions.
For more information, see:
Valerie J Connor, MA CCC-SLP


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