testing

Retraction Watch comments on a provocative case: Should a scientific paper that measured Lance Armstrong's exercise physiology during his Tour de France days now be retracted in light of revelations about his use of performance-enhancing substances? "Lance Armstrong in the scientific literature: A 'reconsideration'". The comment is prompted by an editorial in the Journal of Applied Physiology, which published the initial research [1].

Should Coyle’s paper therefore be retracted? We do not think so; the data are the data, free of author-related ethical concerns. His editorial seems to be the best solution, especially because there can be no definitive answer. How much of the subject’s performance was attributable to his genetics and training, compared to how much was contributed by possible doping, may never be known, but that does not constitute grounds for retraction.

Interesting just how often the paper has been cited in the years since its 2005 publication, although I'm not familiar enough with the physiology literature to judge.

References

Mark Thomas has a Guardian piece reacting to some recent genetics promotion in the UK: "To claim someone has 'Viking ancestors' is no better than astrology". It is a good article to share with students because it clarifies some of the possibilities of genetic genealogy from the hype.

My colleague Prof David Balding and I wrote to the BBC and to the two main scientists at BritainsDNA – both of whom we knew – expressing our concerns about the claims being made. Our expressions of concern over accuracy were met with threats of legal action for defamation by Mr Moffat's solicitors.

Perhaps it is harmless fun to speculate beyond the facts, armed with exciting new DNA technologies? Not really. It costs unwitting customers of the genetic ancestry industry a substantial amount of hard-earned cash, and it disillusions them about science and scientists when they learn the truth, which is almost always disappointing relative to the story they were told.

My advice is consistently: Don't spend money you need for something else, and don't assume that the "interpretation" of your genetics will last more than two months.

That quote is from Misha Angrist, about the coming genetic interpretation industry. It's part of an essay by Virginia Hughes, in Slate: "It’s Time To Stop Obsessing About the Dangers of Genetic Information". The essay will be worth discussion in courses that focus on human genetics. It ties together several claims: (1) widespread whole-genome testing is inevitable and nearly at hand, (2) social science research shows that people don't have increased anxiety or other negative reactions when they learn about health risks from genetics, and (3) medical professionals are not prepared for this near-future.

I don't endorse all the conclusions but Hughes expresses many aspects of the story clearly. For example, this passage on "informed consent" as applied to whole genomes:

The first problem boils down to the concept of “informed consent,” which usually means page after page of consent forms outlining the rights of a patient or research volunteer. (Whenever I talk to researchers about informed consent, they invariably compare it to the iTunes user agreement, where everybody checks the little box without reading the text.) Genome sequencing is so new that informed consent doesn’t always happen, resulting in doctors ordering tests without asking people ahead of time about what to do with the results.

Asking people what they want to know is tricky because you don’t know what will be relevant before you look at the data, notes Amy McGuire, director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine. “It’s impossible at the front end to go through every possible piece of information they’d get back and ask them how they’d feel about that.”

Again, I've discussed these issues with many geneticists and I am continually surprised at how far behind most of them are in understanding what people are already learning about their own genetics.

Vincent Plagnol in Genomes Unzipped last month wrote about a bad example of public communication of population genetics and DNA ancestry testing: "Exaggerations and errors in the promotion of genetic ancestry testing".

One thing we have done in Genomes Unzipped is to report on what is on the market for consumers interested in getting information about their genetic data. While we have found generally positive things to say about this market, there are also many exaggerated claims especially when it comes to making inferences about an individual’s ancestors from direct-to-consumer genetics companies. An example came up last summer with a BBC radio 4 interview of Alistair Moffat of Britain’s DNA. This post will discuss the scientific basis of some of the claims made in the interview.

Now, Genomes Unzipped has published a response from Jim Wilson, chief scientist of BritainsDNA: "Response to 'Exaggerations and errors in the promotion of genetic ancestry testing'".

The two posts are a useful example of the problems communicating human population history and human variation. We know that 10-year-old descriptions of human mtDNA phylogeography are wrong. But those descriptions are still out there, with people assuming they are close to correct, and companies selling the "information" about where their customers' mtDNA came from 50,000 years ago.