Several classes ago, we were talking about some modern therapies and research being done and I mentioned how the human genome was sequenced in the mid 90s as the world looked on speculating about the wealth of benefits that would ensue. We talked a while about how this sequencing effort gave us some idea of the size of the human genome as well as a number of many other organisms. The one of my students asked what real, clinical good had come from this expense of time, money and effort.

I talked about some of the benefits this information had to basic science and how we were now nearing a time that genome sequencing was becoming feasible as a clinical tool.

Several years ago, during the tenth birthday of the human genome , Nature magazine polled scientists about the importance of knowing the complete sequence of the human genome. At that time, most scientists felt that the most value rom the project was to be found in improvements of the sequencing technology itself and to basic research. Very few researchers thought that clinical medicine was receiving any benefit from the project.1

2010 Nature Magazine Poll of Scientists

A few years ago, this sort of test was so difficult and expensive that it was generally only available to participants in research projects like those sponsored by the National Institutes of Health. But the price has plunged in just a few years from tens of thousands of dollars to around $7,000 to $9,000 for a family. Baylor College of Medicine and a handful of companies are now offering it. Insurers usually pay.2

So, what tangible benefits have been realized?

In my mind, I was thinking of a variety of changes that this had harkened in the research community and how it was a great tool to have a frame of reference for asking questions like, “Do I have any mutations in my proto-oncogenes or tumor suppressor proteins that may lead to cancer?” But I was unaware of any specific anecdote that would put a human face on the story and provide evidence of benefit.

However, I was listening to Science Times, the podcast for the New York Times Science pages on the way to class this morning and I heard just that. This article discusses several of these cases, one with a life-changing positive outcome and another with little tangible benefit as yet.

Perhaps we are starting to see spillover into clinical applications, or perhaps, as Eric Lander, a leader of the Human Genome Project, said today in an interview with WBUR’s Here and Now , it takes decades to see the benefits of breakthrough technology get to the clinic. In that case, this is just the beginning and we have much to look forward to.

In the mean time, go check out the genome data and play around. You never know what you might learn.

Being Human

References:

1.  http://www.nature.com/news/2010/100623/full/4651000a.html

2. http://www.nytimes.com/2013/02/19/health/dna-analysis-more-accessible-than-ever-opens-new-doors.html?ref=science