Thursday, February 16, 2012

Personalized medicine: Bring clinical standards to human-genetics research

http://www.nature.com/nature/journal/v482/n7385/full/482300a.html?WT.ec_id=NATURE-20120216

Study protocols need to be rigorous, because more than science is at stake. Sometimes participants' lives depend on the results, writes Gholson J. Lyon.

I was not her physician; I was a researcher, and I had done this work on a research basis, not following the specific protocol required for performing validated clinical or diagnostic tests. I couldn't be totally sure that her individual results were accurate. Should I share them with her anyway, knowing the devastation they could cause? What if I was wrong, and she terminated the pregnancy?

There are increasingly limited resources for biomedical research, and it can take 20 years or more to translate genetic discoveries into new drugs or other treatments. So why not help the families and research participants now, by deriving the highest possible value from every DNA sample we sequence?

We cannot forget the wise words of the late geneticist Charles Epstein, from his 2001 William Allan award lecture: “the operative word in 'human genetics' is 'human.' Human genetics is about human beings — about humanity and humaneness.”3

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