genetic testing
For the past few days I've been avidly following Daniel MacArthur's tweets from the Personal Genome Conference at Cold Spring Harbor(@dgmacarthur #cshlpg).
The Personal Genomics tweets aren't just interesting because of the science, they're interesting because MacArthur and others have started to take on the conventional dogma in genetic ethics.
For years, there has been a strong message from the clinical genetics and genetics education community that genetic information is dangerous.
Unlike the other medical tests we're continually urged to get (mammograms, blood pressure readings, sugar…
On Bioephemera, Jessica Palmer considers the evolving relationship between patent law and DNA, as the Court of Appeals for the Federal Circuit hears the appeal of Association for Molecular Pathology v. U.S. Patent and Trademark Office. At stake are patents that Myriad Genetics holds on two genes—BRCA1 and BRCA2—that it earned in the 1990's. These genes correlate with breast cancer risk, and Myriad is the sole supplier of BRCA diagnostic tests in the United States. Jess explains that such patents do not mean a biotechnology company owns the DNA in our cells, but "a patent holder may have…
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The photo above isone of several posted by NeuroDojo, who has a lovely post on them.
Genetic Future ponders the 23andMe Oops-wrong-data event. Turns out it was a flipped tray.
"I'm frankly astonished that this was possible at an accredited genotyping facility - plate-flipping is an age-old problem, but trivial to prevent with good plate/machine design that only allows plates to be loaded in a single orientation."
Same source carried a good strong early account of this mix-up as well.
Genomeboy ponders a dog's life, as glimpsed through its genome.
Steven Berlin Johnson gives a peek…
After I wrote in my Atlantic article about getting my serotonin transporter gene assayed (which revealed that I carry that gene's apparently more plastic short-short form), I started getting a lot of email â several a week â from readers asking how to have their SERT gene tested. This led to an interesting hunt.
It was a hard question to answer. I couldn't just tell people to do what I did, for a psychiatric researcher/MD I'd known for years, who specializes in depression and serotonin, had done mine as a sort of favor to science and journalism. That researcher also stood by, had I needed…
Daniel McArthur and Daniel Vorhaus have a beef:
Earlier this month, the Sunday Times published an op-ed piece by Camilla Long critiquing the practice and business of direct-to-consumer (DTC) genetic testing ("When DNA means do not ask"). It is Long's right, of course, to express her opinions, but the article is peppered with factual inaccuracies and exaggerations that demand correction.
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While it is regretful that Long herself chooses to remain willfully ignorant of her own genetic information, she is within her rights to do so. However, her attempt to impose that ignorance on her…
Cordyceps in glass, by glass artist Wesley Fleming -- a strange depiction of a rather horrid business. For more, do go to the source, the lovely Myrmecos Blog, which is all about bugs.
Now, the best of the week's gleanings. I'm going to categorize them from here out, and at least try to keep them from being from completely all over everywhere about everything.
Mind, brain, and body (including those gene things)
While reading Wolpert's review of Greenberg's book about depression (he didn't much like it), I found that the Guardian has a particularly rich trove of writings and resources on…
Disclaimer: my wife and I have both received and used free testing kits from Counsyl.
Counsyl is a rather enigmatic player in the personal genomics field: apart from a brief mention in Steven Pinker's excellent NY Times piece over a year ago and an even briefer post on a Newsweek blog late last year, the company has been in determined stealth mode for much of the last two years.
All that was publicly known about the company when I wrote about them last year was that they will be offering a large-scale carrier screening test: basically, allowing couples who are considering having a baby to…
Genetic Future says basically what I was going to say about report about genetic testing for abilities in China. Dan MacArthur notes:
Unlike a lot of commentators on this story, I've got nothing fundamentally against the idea of using genetics to make predictions about a child's future, and on guiding the activities a child engages in based on those predictions. Here's the thing, though: this only makes sense if the predictions are both accurate and relevant, and right now the predictions from genetics regarding complex traits are neither. Parents should save their money for more useful ways…
The GSS has a variable, GENEGOO2, with an N ~ 2,500, that asks:
Some people say that genetic testing may cause trouble. Others think it is a wonderful medical advance. Based on what you know, do you think genetic testing will do more harm than good or more good than harm?
Below the fold are charts which show attitudes based on politics, highest degree attained, vocab score, attitude toward Bible, sex, religion, income, socioeconomic index and race.
Low income at the left:
Low socioeconomic index at the left:
Masha Gessen was faced with a terrifying choice: cut off her breasts, and possibly save herself from cancer, or use them to feed her child.
It was late at night when I walked back to my empty dorm room at the conference. Shivering, I stood on the narrow bed, quickly shut the windows, tore the blankets off the other bed, and wrapped myself up, trying to get warm. Too cold to sleep, I picked up my copy of Masha Gessen's "Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene," expecting boredom to lull me into unconsiousness…
If you've read any of the many stories lately about Craig Venter or Jim Watson's genome, you've probably seen a "SNP" appear somewhere. (If you haven't read any of the stories, CNN has one here, and my fellow bloggers have posted several here, here, here, here, here, and here.)
You may be wondering, and rightly so: just what is a SNP?
Never fear, hopefully this post will answer some of those questions.
tags: DNA sequencing, DNA , SNPs, genetic testing
SNP stands for Single Nucleotide Polymorphism. That's a mouthful. It means some people, will have one base at a certain position, in a…