Genomics Era of Medicine

Yesterday Mr. Wu phoned his daughter at Vanderbilt from China to notify her that he had been diagnosed with Liver Cancer and that the doctors were uncertain of the appropriate treatment.  Mr. Wu was getting older and the arteries leading into his liver were weak.  A doctor’s “best guess” as to how he would respond to various medications was the only comfort he could offer his crying daughter listening two thousand miles away.  His daughter, my friend, is flying east as I write this story, hoping only to see her father before he dies.


If he only knew how he would respond to the proposed treatments?  Better yet, if he only knew that he was likely to develop liver cancer in the first place?   My friend yearns for information, answers.


How do genes influence disease?  Seven days ago, scientists from over the world committed to help answer this question.  1000 Genomes Project includes teams from the UK, US, and China that are now working together to create the most useful catalogue ever of genetic variation.  The consortium’s goal is to sequence 1000 humans in order to “have a better picture of all the places in our DNA sequence where there are differences between people.”


Today only a handful of humans have been sequenced, and only the rare inherited diseases have been studied to identify genetic susceptibilities.   Sequencing 1000 people from every region of the world will allow the 1000 Genomes Project to produce a catalog of genetic variants that are present at 1 percent or greater frequency in the human population.


That could better explain susceptibilities to diseases such as diabetes, breast cancer, rheumatoid arthritis, even liver cancer!


The consortium prided their goal’s ability to lay the groundwork for the “personal genomics era of medicine, in which people routinely will have their genomes sequenced to predict their individual risks of disease and response to drugs.”


Personalized medicine with regular genome sequencing as part of the yearly physical: Sound reasonable?


This level of technology is not as far off as you may think.  Scientists predict that when running at full speed, this project will generate more sequence in two days than was added to public databases for all of the past year.


Remember the ethical implications highlighted by the GATTACA scene when poor, “invalid” Vincent was determined genetically doomed for an early death immediately after taking his first breath.  With genetic sequencing techniques improving exponentially, decisions makers may soon confront these “implausible” dystopian scenarios.


Before my friend left for China, she took careful notice of the media buzz created by 1000 Genome Project.  As a scientist herself, the ethical impact of discoveries like this have never been so tangible.  Genetic testing as part of a new genomics era of medicine

could have saved her father, but at what cost?


Submitted by: Alec Petersen


~ by anonymous on January 31, 2008.

One Response to “Genomics Era of Medicine”

  1. Powerful story, Alec.

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