genomics & society

Archive for the ‘Genetic Counseling’ Category

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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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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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 »

Whole Exome Sequencing: The NIH Experience

Posted by Myra I. Roche on November 28, 2011

In a new post, CGS trainee, Dragana Lassiter, summarizes the discussion of the November, 2011 CGS Seminar entitiled: “Gifts of the Body: Expectations of Cancer Patients Involved in a Whole Genome Sequencing (WGS) Study” that was presented by CGS trainees, Rachel Haase and Marsha Michie along with with CGS investigator, Debra Skinner.   Dragana discusses how the anthropological perspective of the meaning of gifts can provide a way to explain why individuals may consent to participate in research studies involving sample donation.  Many centers are now enrolling patients in studies that sequence either the whole genome (WGS), the exome (largely the coding sequences) (WES) or use a combination of approaches including SNP arrays.   But what has been learned about the process, so far? Read the rest of this entry »

Posted in Genetic Counseling, Genetic Testing, Sequencing, Uncategorized | 2 Comments »