genomics & society

Archive for December, 2011

And What Would You Like for Christmas?

Posted by Myra I. Roche on December 21, 2011

As I reported in my last post, an estimated 30,000 genomes will have been sequenced by the end of the next week. One of these belongs to a new guest contributor, Kiri Sunde, a UNC-CH undergraduate who majors in quantitative biology and mathematics. What could prompt a science-savvy, young woman to spit in a tube and mail her DNA off to 23 and Me? Was it curiosity about her possible pre-disposition to her family’s chronic diseases,  a professor’s assurance that it was good for him, the perfect Christmas present, or ultimately, because the price ($100) was finally right? Did her knowledge of genetics or her curiosity play the bigger role? Find out by reading her post, which can be found here.

Speaking from a different generation and from a different perspective, Dr. Kelly Hogan, a senior lecturer in the Department of Biology at UNC-CH, pondered the same question but made a very different choice. Was her scientific knowledge as a human genetics professor a barrier? Or did it simply come down to a different collection of life experiences? Would her decision have been any  different if sequencing had been available when she was 20? Her decision and the factors influencing it can be found in her post, below and here.

Thanks to both of them for sharing their stories.

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Dear Santa,Just Bring Chocolate

Posted by Kelly Hogan on December 21, 2011

I was invincible.

How else can I explain to myself the risks I took when I was younger? I played roller hockey on in-line skates when I was not a capable skater. I went scuba diving to depths that now make me shiver when I think about the experience.  I took a ride after a party from a driver who likely had too many drinks. I did all of these things when I was college-aged.

And then… Stitches in the gaping roller hockey wound on my chin days before my picture-perfect wedding, news about drunk teens wrapping themselves around telephone poles, a friend who didn’t beat the odds with an aggressive cancer, a “modern medical system” that failed patients, the university student president murdered, my own mortality considered laying in a hospital bed. Read the rest of this entry »

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All I Want for Christmas Is My Genome Sequenced

Posted by ksunde on December 21, 2011

Written by: Kiri Sunde, an undergraduate Carolina Scholar at UNC-Chapel Hill, majoring in Quantitative Biology and Mathematics:

Nineteen ninety was a big year for me; I was born.  It was also a big year for the world of human genetics – the year the Human Genome Project was initiated.  Completed in 2001, the publically funded project cashed in at $3 billion.  Now, just a decade later, I have had one million SNPs across my genome sequenced for under $100.

As a biology major with a strong interest in medical genetics, I had been following the personalized genetic medicine movement from a safe distance for several years.  When I took Dr. Hogan’s introductory genetics class in 2009, I learned that it would not be long before individuals could have their entire genome sequenced for under $1000.  At the time, the idea seemed entirely abstract.  It did not really occur to me that, before I graduated from college, I could have my own genome sequenced, at least not until one of my professors mentioned a few months ago that he sent his DNA sample to the “boutique” genotyping company 23andMe and reported a positive experience.  This idea was no longer purely theoretical, and the prospect of decoding my own DNA was too enticing to resist. Read the rest of this entry »

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Pace of Human Sequencing Far Exceeds Everything Downstream Including Genetic Counseling

Posted by Myra I. Roche on December 2, 2011

While keeping in mind the dictum that correlation does not imply causation, yesterday’s New York Times reported two trends that are pretty clearly causally related: the number of human genomes expected to be sequenced by the end of the year (30,000) and the precipitous plunge in the cost per genome ($8.9 million in 2007 to today’s bargain basement price of $10,500). According to the article, China’s BGI,  the world’s largest genomics research institute, is churning out 2,000 human genomes a day. The world’s capacity to generate sequence was quoted as 13 quadrillion (13,000,000,000,000,000) DNA bases per year.

Data Delivery by Rickshaw?
But while sequencing has quickly transitioned to a high-throughput operation, downstream events, like storage, interpretation, and communication of results, have been unable to ramp-up enough to cope with, let alone keep up with, this deluge of data.  The Times article focused primarily on storage capacity and retrieval painting a quaint image by revealing that BGI transmits the data back to their clients using, not the poky Internet, but rather, on discs, using old-reliable, FedEx; presumably brown shorts and all (or is that UPS?) Read the rest of this entry »

Posted in Genetic Counseling, Sequencing | Tagged: , | 4 Comments »