Figures from History, Redux 1: Gregor Mendel

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This is the first installment in a new series called Figures from History, Redux. I’ll be asking scholars and historians of science, medicine, and technology to provide a voice for long-departed historical figures, so that they too might weigh-in on current issues.

For this installment, I asked Simon Mawer, biologist and author of Mendel’s Dwarf, to speak-up for Gregor Mendel, the beloved lover of peas.

Question: If Gregor Mendel were alive today, do you think he would be part of the early adopter crowd anxious to have a peek at his personal genome sequence? Might he even eschew privacy and put it on the web for others to see and use?

I am certain - as certain as one can be about such things - that Mendel would have been delighted with a whole genome project and the idea of having his own sequenced. It would have appealed to the mathematician in him, and the chess-player. ‘And after all, what do I have to hide?’ he’d have said. And then, on consideration, he would have added, ‘But what will it really show? The cause of my baldness, probably. My overweight - damned overweight! - and poor eyesight, possibly. But my love of plants? My love of nature? My ideas about garden peas? My love of teaching? My sense of humour? Surely none of those! There’s more to man than mere machinery!’

He was a man of meticulous curiosity and a fine mathematician. The thought that you can, in some sense, reduce a living organism to a kind of algebra would have amused him no end, not least because he would have seen that it is not, and indeed cannot be, the whole story. Indeed, how can a sequence of As Gs Cs and Ts in any real sense be one of his garden peas, or one of his beloved fuchsias? What is the code for beauty? However, the medical applications of genome sequencing would have appealed to him although I suspect he would have been cautious. Molecular genetics seems all the time to promise more than it actually yields and he would have been quick to point that out. But he was very much a man of the future and an enthusiast for progress. Obfuscation and ignorance appalled him. So, yes, bring on the sequences, but accept that we are merely opening the hidden door by reading our genes; it is barely possible to see any detail of the garden beyond.

-Simon Mawer

Big thanks to Simon for participating in the inaugural entry of the Redux series!

Simon Mawer’s homepage

See also the Field Museum’s exhibit called:
Gregor Mendel: Planting the Seeds of Genetics

Flashback 1995: Epidemiology faces its limits

“With epidemiology you can tell a little thing from a big thing. What’s very hard to do is to tell a little thing from nothing at all”…journals today are full of studies suggesting that a little risk is not nothing at all. The findings are often touted in press releases by the journals that publish them or by the researchers’ institutions, and newspapers and other media often report the claims uncritically…And so the anxiety pendulum swings at an ever more dizzying rate. “We are fast becoming a nuisance to society,” says [Dimitrios] Trichopoulos. “People don’t take us seriously anymore, and when they do take us seriously, we may unintentionally do more harm than good.” As a solution, epidemiologists interviewed by Science could suggest only that the press become more skeptical of epidemiologic findings, that epidemiologists become more skeptical about their own findings–or both.”

From, Gary Taubes, Epidemiology Faces Its Limits. Science. 269(5221):164-169. July 14, 1995. (sorry subscribers only, but here is decent pdf)

Rarely does a journal article have me hanging on every word. On occasion they do. This 1995 article is one to get excited about. I suspect the field of personal genomics has a lot to learn from this article, especially as it relates sober-faced communication of research findings. The personal genome enthusiasts who are interested in drinking from the firehose of new genomic associations would do well to take the advice for vigilant skepticism of the newest findings. But skepticism alone seems like a rather weak antidote, new tools are definitely needed for organizing a publicly available scoreboard for genomic associations.

The gene is dead…oh wait…alive but sloppy

The concept of the gene almost died this morning. I was just sitting at my desk minding my own business, reading a journal article when, blam!, the gene was dead. Well almost — turned out to be more of a near death experience. I’m sorry to report there was no white light or anything mysterious like that. But there was coffee, so thats good.

Read more

History of Patenting Life and Its Parts

Daniel Kevles reviews the history of patenting "life and its parts" in a recent talk at Duke Law School.  The talk provides an overview of the major events that have shaped our current intellectual property regime, including Ananda Chakrabarty and the oil-slick eating bacteria, Philip Leder and the Oncomouse, Stan Allen and the triploid Pacific Oyster, Craig Venter and Expressed Sequence Tags (EST), Myriad’s patent claims on the BRCA genes, and lots of interesting minutiae.   He ends the talk with this comment:

"We all have a stake in human genes, just as for example, down-river residents have a stake in up-river holders of riparian rights.  We limit the rights of the up-river holders to do with their property whatever they wish, the time may well be coming, in fact I think its already here, when we will limit the IP rights in human genes too…"

Watch the streaming webcast

Daniel Kevles "Patenting Life and Its Parts: Ethics and Rights in the Political Economy of Intellectual Property" Duke Law School’s Center for the Study of the Public Domain, April 7, 2005. (streaming webcast)

Daniel Kevles faculty profile at Yale.


Update
: Personal genome sequencing presents some interesting challenges to intellectual property — or perhaps it is the reverse, intellectual property claims present some interesting challenges for personal genome sequencing.  Jay Shendure framed the issue in an excellent paper on the cost of sequencing:

[Ultra low cost sequencing] technologies will probably not be able to avoid the resequencing of patented genes.  Interesting legal issues arise around the question of patients’ rights to have analysed (or to self-analyse) their own DNA sequence versus corporate interests that presumably own the rights to that analysis.

If personal genome sequencing were available cheaply today, this issue might be problematic, to give an example, with the way in which Myriad Genetics exercises their patent claims on BRCA1 and BRCA2.  Daniel Kevles points out they they require that all sequencing of these genes be done at Myriad’s labs.  If other companies adopt similar models to enforce intellectual property rights, the $1000 genome would appear to be dead in the water.  If a person had to send blood or buccal samples to hundreds of labs in order to get a full genome sequence, the shipping costs alone might be more than $1000.

John A. Robertson. "The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals" The American Journal of Bioethics 3(3):W35-W42

Shendure J, Mitra R, Varma C, Church GM (2004) Advanced Sequencing Technologies: Methods and Goals. Nature Reviews of Genetics May;5(5):335-44.

Consumer health info in less than an hour

“I look forward to such an organization of the literary records of medicine that a puzzled worker in any part of the civilized world shall in an hour be able to gain the knowledge pertaining to a subject of the experience of every other man in the world.” —George Gould, first president of the Association of Medical Librarians (now the Medical Library Association), May 1898.

The Medical Library Association has developed two websites for health consumers looking for quality health information on the web.  See here and here.