“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.”
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.
Exposome: The collection of an individual’s environmental exposures over a lifetime.
HT: Christopher P. Wild in this article
Applied Biosystems has published a brief guide to genetic markers. This 10-page document provides a quick introduction to such things as restriction fragment length polymorphisms (RFLPs), short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), and haplotypes. Linkage and association studies are also briefly introduced.
Applied Biosystems. "SNPs — Powerful Tools for Association Studies" August 2003.
New book published by OUP:
Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease, 2004. Editors: M. Khoury, J. Little, and W. Burke.
From the Preface:
In this book, we show how the epidemiologic approach will play an important role in the continuum from gene discovery to the development and applications of genetic tests. We call this continuum human genome epidemiology (or HuGE) to denote an evolving field of inquiry that uses systematic applications of epidemiologic methods to assess the impact of human genetic variation on health and disease.
The table of contents with links to selected chapters can be found here.