genomeboy.com

I can’t help but wonder if these guys are forced to blog about the FDA as some kind of punishment. That said, they are doing a brilliant job so far. Today’s post features an extended riff on the ongoing regulatory kerfuffle surrounding consumer genomics companies. What struck me was how markedly the FDA’s stance has changed from the heady and idyllic days of 2007-2008:

Federal regulators were favorably disposed to the industry at the outset. Before launching their product, 23andMe met with then FDA Commissioner Andrew von Eschenbach, who “encouraged [them] to proceed”. Several more startups were even approached by senior FDA officer Lawrence Lesko to officially collaborate on a study of genetic influences on drug response. Lesko, the Director of FDA’s Office of Clinical Pharmacology, gave a presentation at Temple University where he mentioned 23andMe’s potential to improve “access to genetic testing” and enable a “new, educated generation of health care providers and patients.”

One woman panicked when the genetic test she had ordered over the Internet concluded that her son was carrying a life-threatening disorder and, even more disturbing, that he was not — genetically — her son. Another, who always thought she was white, was flabbergasted to find her genes were mostly of African origin. A third woman’s result was still more stunning: She was a man, it said.

“I thought, ‘Oh my God. Am I really a man?’ ” said Denise Weinrich, 48, of St. Peters, Mo. “I thought, ‘What’s the matter with me? I’m not who I thought I was. How am I going to tell my children?’ DNA doesn’t lie.”

Ahem.

Cystic fibrosis screening in the real world:

Dr. Highsmith agrees that one “extremely good aspect” of CF newborn screening programs is that when an affected baby is identified and brought to a CF center, “you certainly get clinical improvement.” However, he asks, “What happens when you find carriers?…what is the cost of that strategy from both a medical and a parental stress viewpoint?”

Am I to understand that one of the complaints against newborn screening for CF is the “unintended consequence” of finding carriers? Hoo boy.

This is intelligent design?

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?

You can’t make this stuff up.

An Italian court has cut the sentence given to a convicted murderer by a year because he has genes linked to violent behaviour—the first time that behavioural genetics has affected a sentence passed by a European court. But researchers contacted by Nature have questioned whether the decision was based on sound science.

***

“90% of all murders are committed by people with a Y chromosome—males. Should we always give males a shorter sentence?” says Steve Jones, a geneticist at University College London. “I have low MAOA activity but I don’t go around attacking people.”

Farahany points out that prosecutors could use the same genetic evidence to argue for tougher sentences by suggesting people with such genes are inherently ‘bad’.

“The question is where do you stop,” Jones adds.

I am assuming the timing of the “going bust” thought experiment was only a coincidence:

Personal genomics startup 23andMe has just gone through a round of layoffs, we’ve confirmed. The company declined to comment on how many people were laid off, but offered this statement:

We have reduced our staffing levels in a restructuring of our workforce. This was a very difficult decision, but one that we felt was necessary to achieve 23andMe’s long-term business development goals and maintain our strength in the industry.These cuts, which are a reflection of the current economic environment all companies are facing, will allow us to continue to invest in the growth of our Personal Genome Service and research endeavors.

I’ve always maintained that what happens between two consenting species is nobody’s business, as long as they’re happy.