Council of Europe adopts protocol on genetic testing for health purposes
In a report so-titled by Laurence Lwoff in the European Journal of Human Genetics (2009) 17, 1374–1377, first published online in July, it was noted that the Council of Europe has weighed in on one of the most controversial areas of DNA testing, whole-genome sequencing and SNP testing to find genetic predisposition to disease for individual customers. Recent editorials in Nature have called for similar measures in the United States, which is home to 23&me and other companies offering such services.
So far, no regulatory proposals have been aimed at genetic ancestry testing, only medical and health-related screening. One of the warnings often raised in the public discussion on genetic testing for health purposes, however, is that results may confuse and unnecessarily alarm consumers--a criticism that could apply equally to ancestry services. Another is that commercial research scientists and business operators may jump the gun with findings and peddle bad science, although critics admit that the state of knowledge on nearly every topic of interest to geneticists and medical researchers is in a constant state of flux. A finding about a gene for Alzheimer's will be trumpeted in the pages of a major journal one week only to be updated or withdrawn in the next.
This being the case, one wonders when discoveries will ever be fit to be commercialized or made available to the public. Should science only serve scientists?
We have always maintained that the would-be regulators underestimate moderately educated people's ability to understand emerging science. They overestimate commercial companies' disregard for professional practices and responsible communications. Most of the measures under discussion will have the effect of denying people access to valuable information. Regulation will also hamper growth in a direct-to-the-consumer business with unimaginable promise for society at large. A home paternity test purchased at the corner drugstore may make all the difference in the life of a family. Discovery of varied ancestry through a DNA test can be an important factor in furthering a consumer's interest in other peoples and countries, in history, and ultimately in tolerance of others. DNA testing can help bring peace of mind but it can also help bring peace in the world.
Many, if not most, of the innovative contributions to society by science have come from non-specialists. The scientific establishment is not oriented toward practical applications of knowledge. The Croatian inventor and engineer Nikola Tesla dropped out of college and never received any formal training. Driven entirely by his natural aptitude for learning, he patented some of the most important contributions to the birth of commercial electricity, including alternating current (AC) electric power systems and the AC motor. His inventions helped usher in the Second Industrial Revolution. So far from being overpowered by the profit motive, he died penniless at the age of 86 in 1943. No government program or university gave him any support or assistance. Whatever else the Council of Europe deliberated about, we hope they were not cynical or self-important enough to discount the possibility there may be many more popular scientists like Tesla in Europe's future. Science and technology are increasingly becoming a way of life for millions of people around the world who do not happen to have an advanced degree. It is a positive sign that consumers are so eager to take responsibility for their own health they will use the latest innovations from genomics to gain knowledge and control. Scientists should be glad they have such an impact. They should not squander the respect they enjoy in our eyes with pedantic discussions about fixing something that is not broken.
Isolated populations as treasure troves in genetic epidemiology: the case of the Basques
Paolo Garagnani et al. (2009) in European Journal of Human Genetics 17: 1490-1494.
The Basques living on the western border between Spain and France are a unique population. "Basques" often comes up as a match in people's DNA Fingerprint results, often because (as is widely believed, at least) a people resembling Basques helped repopulate the British Isles after the last Ice Age. But Basques are not an isolate. This article proves they blend gradually into their closest neighboring populations in Spain and France so they are not a candidate population, as say the Finns are, for the study of disease associations. "Basques do not show the genetic properties expected in population isolates," according to the authors. On the contrary, as many previous studies suggest, the Basques have so much diversity among themselves they were probably the source of population diffusions in prehistory, not a backwater trap for inbreeding.
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Geneticists seized the opportunity provided by an international Basque cultural event held in Idaho in 2010 to sample volunteers and study Basque DNA. The result was two studies, including "The Y-STR Genetic Diversity of an Idaho Basque population, published in Human Biology.
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