genomeboy.com

Jerome Groopman offers a withering assessment of comparative effectiveness research:

There is a growing awareness among researchers, including advocates of quality measures, that past efforts to standardize and broadly mandate “best practices” were scientifically misconceived. Dr. Carolyn Clancy of the Agency for Healthcare Research and Quality, the federal body that establishes quality measures, acknowledged that clinical trials yield averages that often do not reflect the “real world” of individual patients, particularly those with multiple medical conditions. Nor do current findings on best practices take into account changes in an illness as it evolves over time. Tight control of blood sugar may help some diabetics, but not others. Such control may be prudent at one stage of the malady and not at a later stage. For years, the standards for treatment of the disease were blind to this clinical reality.^[7]

Orszag’s mandates not only ignore such conceptual concerns but also raise ethical dilemmas. Should physicians and hospitals receive refunds after they have suffered financial penalties for deviating from mistaken quality measures? Should public apologies be made for incorrect reports from government sources informing the public that certain doctors or hospitals were not providing “quality care” when they actually were? Should a physician who is skeptical about a mandated “best practice” inform the patient of his opinion? To aggressively implement a presumed but still unproven “best practice” is essentially a clinical experiment. Should the patient sign an informed consent document before he receives the treatment? Should every patient who is treated by a questionable “best practice” be told that there are credible experts who disagree with the guideline?

Amen, Jerry. CER may be well on its way to becoming the “No Child Left Behind” of health care. “Let’s create some immutable standards, wield them like a sledgehammer, and then declare victory!”

Doctors are pooh-poohing personal genomics. Yet they would put their faith in behavioral economics? Talk about going “off label”…

Words fail:

The authorities do not know exactly how many people have been killed warbling “My Way” in karaoke bars over the years in the Philippines, or how many fatal fights it has fueled. But the news media have recorded at least half a dozen victims in the past decade and includes them in a subcategory of crime dubbed the “My Way Killings.”

The killings have produced urban legends about the song and left Filipinos groping for answers. Are the killings the natural byproduct of the country’s culture of violence, drinking and machismo? Or is there something inherently sinister in the song?

The Lancet has retracted a 1998 paper linking the Mumps-Measles-Rubella vaccine to autism. The journal’s editor spoke to On the Media this week.

CNN:

Many parents don’t realize their baby’s DNA is being stored in a government lab, but sometimes when they find out, as the Browns did, they take action. Parents in Texas, and Minnesota have filed lawsuits, and these parents’ concerns are sparking a new debate about whether it’s appropriate for a baby’s genetic blueprint to be in the government’s possession.

“We were appalled when we found out,” says Brown, who’s a registered nurse. “Why do they need to store my baby’s DNA indefinitely? Something on there could affect her ability to get a job later on, or get health insurance.”

Just wait until they get hold of baby’s email.

(Hat tip)

I put down Rebecca Skloot’s first book, “The Immortal Life of Henrietta Lacks,” more than once. Ten times, probably. Once to poke the fire. Once to silence a pinging BlackBerry. And eight times to chase my wife and assorted visitors around the house, to tell them I was holding one of the most graceful and moving nonfiction books I’ve read in a very long time.

Hear hear! Listen to her on Fresh Air. Go see Rebecca. Buy the book. Give to the foundation. Get the action figure. Read the book!

Rare genetic variants that cause disease may be masked by common ones that don’t:

Sarah Tishkoff, a geneticist at the University of Pennsylvania in Philadelphia, says “this may make it challenging to identify the functional variant within an association”. Teri Manolio, a population geneticist at the National Human Genome Research Institute in Bethesda, Maryland, writes via email that “if their simulations are correct, and I suspect they are,” they suggest researchers will have to sequence a lot of DNA, up to 10 million bases, surrounding common variants.

Goldstein says that the work suggests more whole-genome sequencing will be needed in more targeted populations of affected individuals and families. In a sense, he says the issues being raised signal the need for shift from the powerful statistics of GWA studies to work more focused on specific genes in affected families and how they function biologically. As Goldstein puts it, “the importance of the family has really come back again.”

 To do:

1) Read it and weep

2) Buy stock in sequencing companies

Not only can the past never really be erased; it co-exists, in cyberspace, with the present, and an important type of context is destroyed. This is one reason that intellectual inflexibility has become such a hallmark of modern political discourse, and why, so often, no distinction is recognized between hypocrisy and changing your mind.

- Jonathan Dee in the New York Times Magazine, 24 January 2010

As he strikes out on his own at Duke, Ge is interested in developing software packages to detect these genetic contributions to human diseases. When looking through sequencing data, he says there are a lot of questions to answer for each SNP: does it cause a premature stop? A frame shift? Does it disrupt the normal gene function? “Now, to answer that question may not be so difficult when you look at them individually, just browsing NCBI Genome Browser or [another] genome browser, but it is if you look at millions,” Ge says. He developed a package called the Sequence Variant Analyzer that allows users to annotate variations uncovered through whole genome sequencing and compare them to control genomes.

Dongliang is one of many who have helped me begin to navigate my own genome. People like him and the developers of Trait-o-matic are pushing enormous rocks up steep hills so our children won’t have to.

The New York Times talks to literary theorist Terry Castle:

What are the latest trends in academia? Is poststructuralist theory dead yet?
Well, it carries on in its zombielike, jargon-ridden way here and there. But it’s on the wane. The smartest literary scholars right now are interested in evolutionary psychology and brain science — how we may be hard-wired for fiction-making, aesthetic appreciation and the like.

Is that a good development? How do you feel about seeing the adventure of life reduced to a function of DNA?
I guess I’m down with it because I’ve always felt, for instance, that my own lesbianism was genetic. My cousin, whom I was just visiting in London, we have the same DNA, and we’re both big, old dykes.

Um…you go girl?