genomics & society

Archive for the ‘Sequencing’ Category

The Limits to Fiction

Posted by Myra I. Roche on April 27, 2012

“Truth is stranger than fiction, but it is because Fiction is obliged to stick to possibilities; Truth isn’t.”: Mark Twain.

In a previous post, “Analyzing Media Reports about Genetic Testing” which can be found here,an NPR story was described reporting a Manhattan preschool (Porsafillo Pre) with plans to require DNA testing of any toddlers hoping for admission. The planned start date? April 1st! The proposed genetic testing would be used to “predict future excellence — things like intelligence, confidence and other leadership traits”. It also described obtaining blood from pregnant women in order to “isolate (the fetal) genetic makeup”, and, the real kicker, the results would be forwarded to the school in “about a month”. Apparently the school has a crack bioinformatics team sequestered in the basement. Must be why the tuition is so high.

Now, after reading an article in Slate dated April 27th, not April 1st, that story starts to sound a little less like fiction and a little bit more like, well, a movie. Entitled “Will Gattaca Come True?” the article describes the frenetic competition to commercialize fetal testing using noninvasive prenatal diagnosis (NIPD).  As you night have guessed from the title, it also makes dire predictions about the implications of opening these floodgates. The article, which can be found here notes that, in addition to chromosomal trisomies, the original target of the technique, gender can also be readily identified.  This was fully anticipated, according to the story, by Dennis Lo who, in 1997, discovered cell-free floating fetal DNA (cffDNA) in maternal blood. Reportedly his stipulation upon licensing the technology to Sequenom in 2005 was that “it could not be used for sex selection.” The story highlights the founder of a competing company, Natera, and describes his sister’s unexpected delivery of a baby with Down syndrome after negative prenatal screening as the trigger for his intense interest in this technology.  The company is also, for now, adhering to this self-imposed regulation against revealing fetal gender.

But if, as Lo reported in Science Translational Medicine, the entire fetal genome could, in principle, be reassembled from cffDNA and if his bet is correct that fetal genome testing could be widely available clinically in 10 years, the ethical implications of gender selection will just have to stand in line; a very long line. But let’s have a little dose of reality here. The Slate article mixes a dash of fact with more than a sprinkling of hype. For example, the author would have us believe that “aggravating probabilities (will be replaced) with accurate information”, ignoring the fact that, even with perfect genotyping, the predictive phenotypic implications of most genetic variants are imprecise, at best. As for the obligatory, ominous prophecy of a “Gattaca-like two-tiered society, in which parents with good access to health care produce flawless, carefully selected offspring (while) the rest of us spawn naturals”, the fact is that selecting against traits is a much less effective endeavor than selecting for traits which would require a whole different business model for match.com.  But even then, flawless?  Have you never seen a Dachshund?

But truth be told, when it comes to imagining a society of “health-care-haves” and “health-care-have-nots”, who needs fiction?

Posted in Ethics, Genetic Testing, Sequencing | Tagged: , , , , | Leave a Comment »

Update from the ACMG Meeting in Charlotte

Posted by Myra I. Roche on March 28, 2012

Although off to a slow start, the pace of the ACMG meeting has begun to rev up as the participants begin to round the second lap.  But if the finish line is analogous to reaching a consensus about reporting results from whole exome or whole genome sequencing, it is clear that several laps remain.   Cars, I mean, participants were jockeying for position in the open forum session last night Read the rest of this entry »

Posted in Genetic Counseling, Genetic Testing, Return of Results, Sequencing | Tagged: , , | Leave a Comment »

The ACMG Meeting in Charlotte: Geneticists Start Your Engines!

Posted by Myra I. Roche on March 21, 2012

Beginning next week, we will be reporting on interesting topics from the American College of Medical Genetics Meeting which will be held beginning March 28-31, 2012, in Charlotte, North Carolina.  We will also be posting about the short course (Tuesday, March, 27) entitled “Next Generation Sequencing: Clinical Utility, Laboratory Implementation and Bioinformatics Analysis” which promises to be a fun-filled, seven hour marathon session exploring every nook and cranny of nextgen sequencing.  Hope they’ll at least provide us with some cookies.

Other potentially interesting sessions include: Read the rest of this entry »

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Trying on Ethical Frameworks

Posted by Myra I. Roche on March 21, 2012

At our last reading group meeting, Rebecca Walker, led a discussion about creating an “ethical analysis” of a topic, such as the one we posed a few weeks ago: “Should students use their own DNA for classroom activities?” Some background information about the controversy can be found here.  Rebecca described both prescriptive and descriptive aims of an ethical analysis.  While a prescriptive approach would argue for a particular “best practice”, a descriptive one would detail the moral claims of each side of the argument.  Please note that this post represents my relatively uneducated summary of our session so feel free to contribute a comment to correct me.

We discussed three ethical frameworks upon which we might build a prescriptive analysis for our topic: a casuistical approach, a feminist approach, and a principles-based approach.

The casuistical method, unlike the financial market, actually does rely on past performances to predict future actions.

Read the rest of this entry »

Posted in Genetic Testing, Sequencing | Tagged: , , | 6 Comments »

Tell Us What You Think!

Posted by Myra I. Roche on March 20, 2012

Do you think people should be able to obtain incidental WES results? Click to vote in the poll.

Read the rest of this entry »

Posted in Genetic Testing, Return of Results, Sequencing | Tagged: , , , | 1 Comment »

Tell Us What You Think!

Posted by Myra I. Roche on March 7, 2012

What do you think about students using their own DNA for classroom activities ?  Click to vote in the poll,

Read the rest of this entry »

Posted in Education, Ethics, Infomed Consent, Sequencing | Tagged: , | 7 Comments »

Student Use of Their Own DNA in Classroom Activities

Posted by Myra I. Roche on March 7, 2012

Last week, our ELSI reading group began a series of three sessions devoted to the controversial issue of whether or not students should be encouraged/allowed to use their own DNA in classroom activities. Dr. Kelly Hogan, a senior lecturer in the Department of Biology, became interested in this topic when, after discussing the availability of direct to consumer (DTC) testing with her class, two of her students decided to ante up and have their genome sequenced. One wrote about her experience in this post last December. And the other students? The best guess was that it was only the $200 price tag that deterred them from diving headfirst into their own gene pool.  Some instructors believe that if students have access to their own genetic data, they will become more engaged and learning will be enhanced.  But, as the University of California-Berkeley found out last year, sponsoring this kind of engagement has its own price. Read the rest of this entry »

Posted in Education, Ethics, Infomed Consent, Sequencing | Tagged: , | Leave a Comment »

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 »

Posted in Genetic Testing, Sequencing | Tagged: , , | Leave a Comment »

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 »

Posted in Genetic Testing, Sequencing | Tagged: , , | 3 Comments »