genomics & society

Genetic Medicine with the Amish: not so plain and simple

Posted by martha k on July 9, 2012

In February, the journal Nature published a piece by science journalist Trisha Gura outlining the history and work of the Clinic for Special Children (CSC) in Strasburg, PA. The clinic and its physicians have been profiled a number of times in the media, including a piece on Dr. Morton published in Smithsonian Magazine that eventually led me to their door. My research among the Amish of Lancaster County investigates how their religious community and group identity impact the way Amish utilize healthcare, value varied medical approaches, appropriate technology, and understand the individual and social body. Like previous profiles, Gura’s article was well researched and touched on a number of the fascinating aspects of clinical care at CSC—including their tactic of stepping over the systemic partitions between research and clinical care in order to more effectively treat their patients. This team has shaped their practice of medicine to rise and meet their patient population, and their use of genomics has resulted in diagnoses and treatments becoming less costly, easier to comply with, and more culturally perceptive.

Becoming fluent in the subtleties of Anabaptist life in the Lancaster area allows the staff and physicians at CSC to practice real genomic medicine on the ground. Read the rest of this entry »


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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  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?

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Elizabeth Taylor Was A Mutant

Posted by Myra I. Roche on April 16, 2012

Thanks to the world of sci fi movies, the word “mutant” has become nearly synonymous with highly visible, grotesque, morphological changes such as those seen in menacing alien creatures roaming the barren landscape.  In an unfortunate, guilt-by-association relationship, the related word mutation shares a similar sinister connotation.  Since colloquial meanings consistently trump wikipedia definitions, many genetic professionals studiously avoid using the “m” word during a genetic counseling session for fear they will trigger a negative visceral reaction.  Why elicit such a deer-in-the-headlight response from parents that will only damage our ability to establish and maintain rapport?  In response, softer and gentler synonyms have evolved in the genetic counseling language including: a genetic change, a genetic variant, and a genetic difference.  While none of these substitutes are completely satisfactory, their saving grace is they don’t pack the emotional punch of the word mutation.  But then, maybe parents don’t understand precisely what these synonyms mean. Which, perhaps, is exactly the point.

Interestingly, the pure, scientific definition of the word mutation is neutral, not pejorative.  A mutation simply means a permanent heritable change in the genome.  Note the lack of judgment.  The word itself provides no hint whatsoever whether the change results in a negative OR a positive effect.  This neutrality is indeed one of its strengths.  We just always seem to concentrate on the negative while forgetting about the possibility of the positive.

But now  the word mutation has a final chance to redeem itself by being paired with someone who many would consider an anti-mutant, Elizabeth Taylor.  According to this recent story on Slate, after “Liz” was born, her parents were told she had a “mutation”.  Their response was predictable:  “Well, that sounded just awful,” (Elizabeth’s) mother later recalls, “a mutation.”  We can even hear the imaginary exclamation pointSo which grotesque feature did Liz show that led to this startling conclusion?  Nope, wrong mutation; not the violet eyes.  Read the rest of this entry »

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Telling Fact from “Non-Fiction”

Posted by Myra I. Roche on April 11, 2012

The previous post which can be found here has generated a couple of comments so far.  One was from Kelly Hogan, one of the contributors to this blog.   Her comment can be found here.  We also received a comment from Phil Harrell of NPR after we sent this email:  The UNC Center for Genomics and Society blog has taken the opportunity of using the story aired April 1, 2012 about the fictitious preschool requiring DNA samples to help our trainees who study ELSI (Ethical, Legal, and Social Implications of the Human Genome Project) topics develop critical thinking skills about genetic testing. Entitled: Fact or Fiction: Analyzing Media Reports about Genetic Testing, the post can be found at Thanks for giving us this great example.

He responded:  Hi, my name is Phil Harrell; I’m the producer behind that April Fool’s gag.  This is SUCH a cool use of that bit of silliness!  Thanks for letting us know.  Read the rest of this entry »

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Fact or Fiction: Analyzing Media Reports about Genetic Testing

Posted by Myra I. Roche on April 5, 2012

One goal of creating this Center for Genomics and Society blog was to encourage communication within and between the Centers for Excellence in ELSI Research (CEERs).  We welcome members of the other NIH-sponsored CEERs (Case Western Reserve University, Columbia University, Duke University, Oregon Health Sciences University, Stanford University, University of Pennsylvania, and University of Washington)  to our virtual conversations and hope to hear from all of you.  We invite you to contribute by submitting comments and/or writing posts.  The “About” page tells how to get started.

The topic of genetic testing has been extensively covered by the media but it can sometimes be challenging to sort out fact from fiction.  One tactic is to obtain information from credible sources.  But that technique backfired for some readers of a recent NPR report.  Usually a very credible source, NPR reported a story about a prestigious new preschool on Manhattan’s Upper West Side that plans to require their tiny applicants to submit a DNA sample in order to be considered for admission.  Why did this story raise some hackles?  Read the article and the comments here and decide for yourself.  It is even more fun, and, interestingly much more convincing, to listen to it, even though essentially the same words are used.  Try it here yourself and tell us if you agree or not.  The familiar sound effect at the very end serves as the biggest clue. Read the rest of this entry »

Posted in Genetic Testing, Health Literacy, media reports | Tagged: , , | 3 Comments »

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 »

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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.

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

Tell Us What You Think!

Posted by Myra I. Roche on March 20, 2012

What do you think about using WES in newborn screening? Click to vote in the poll.

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