When the draft sequence of the human genome was published in 2001, significant attention was paid to repeat sequences that "...constitute a rich paleontological record, holding crucial clues about evolutionary events and forces..." such as "...the unusual evolutionary history of chromosome Y."
In 2003, the U.S. National Human Genome Research Institute's vision for the future of genome research included Grand Challenge I-4 that called for "understanding evolutionary variation across species and the mechanisms underlying it.” As the ability to sequence genomes became easier and cheaper, researchers collaborated on cataloging extensive maps of human variation as part of the 1000 Genomes Project and the International HapMap Project, "…providing the necessary raw material for human evolutionary genomics to operate."
After reviewing a decade of research in the field of evolutionary genomics, Vitti et al. find that it “..stands at the intersection of two sensitive topics that are widely misunderstood in their own right: evolution and genetics.” In recognition of this need for clarity, their review begins with a glossary of essential terms for discussing the intersection of these two fields such as genetic determinism, genetic reductionism, and genetic drift.
Historically, advances in evolutionary science and genetics "…have been misapplied to provide justification for unethical practices." When Herbert Spencer devoted a section of his Principles of Biology [1864] to the "survival of the fittest,” the stage was set for evolution to be conceived of as a progressive and teleological force rather than as the "blind process" that it is. The authors recall the “…now-infamous [1854] depiction [from Nott and Gliddon’s Types of Mankind] of the heads and skulls of a chimpanzee, an African male and the god Apollo” used over the years to justify racism and social Darwinism.
As an example of the effects of this “dark history” on current research, the authors refer to recent studies of brain size determinants by Mekel-Bobrov et al. and Evans et al. that have provoked both critical and racist responses.
The authors recommend that researchers "…be responsible for devising ‘ethically self-aware research agendas’ to foster ‘interpretative rigor’” and to prevent research findings from “…being warped towards harmful ends.” Such an agenda would consist of three components: methodological rigor, cautious scientific reporting, and educational leadership in the public discourse of science.
To determine “what counts as evidence” in a rigorous way, the authors refer to J. M. Akey’s review of research methods for examining alternate hypotheses and conducting follow-up studies, and cite a PLoS Biology’s editors’ proposal that researchers augment any claim for positive selection by combining the sequence data analysis with other experimental evidence.
Being cautious when reporting study results includes emphasizing the study’s limitations and explaining the conclusions “…in language that is precise and accessible to a lay audience.” To avoid the common problem of correlation being mistaken for causation, the authors suggest depicting the genome as a recipe rather than as a blueprint for an organism.
To enhance public understanding of biological concepts, the authors propose that researchers be proactive and organize forums to discuss their research findings so that they can “…address misconceptions head-on.”
The authors conclude by suggesting that the pitfalls of evolutionary genomics can be avoided by researchers holding their “…projects at arm’s length and [examining] the genuine ethical dilemmas they inspire.”
Akey, Joshua M. Constructing Genomic Maps of Positive Selection in Humans: Where Do We Go from Here? Genome Research 19(5):711-22, May 2009. doi: 10.1101/gr.086652.108
Collins, Francis S.; Green, Eric D.; Guttmacher, Alan E.; and Guyer, Mark S. A Vision for the Future of Genomics Research: A Blueprint for the Genomic Era. Nature 422(6934): 835-847, April 24, 2003.
Evans, Patrick D.; Gilbert, Sandra L.; Mekel-Bobrov, Nitzan; Vallender,
Eric J.; Anderson, Jeffrey R.; Vaez-Azizi, Leila M.; Tishkoff, Sarah A.;
Hudson, Richard R.; and Lahn, Bruce T. Microcephalin, a Gene
Regulating Brain Size, Continues to Evolve Adaptively in Humans.
Science 309(5741):1717-20, September 9, 2005. doi: 10.1126/science.1113722.
MacCallum, Catriona, and Hill, Emma. Being Positive about Selection. PLoS Biology 4(3): e87, March 14, 2006. doi: 10.1371/journal.pbio.0040087.
Mekel-Bobrov, Nitzan; Gilbert, Sandra L; Evans, Patrick D.; Vallender, Eric J.; Anderson, Jeffrey R.; Hudson, Richard R.; Tishkoff, Sarah A.; and Lahn, Bruce T. Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens Science 309(5741): 1720-2, September 9, 2005. doi: 10.1126/science.1116815.
Mekel-Bobrov, Nitzan; Gilbert, Sandra L; Evans, Patrick D.; Vallender, Eric J.; Anderson, Jeffrey R.; Hudson, Richard R.; Tishkoff, Sarah A.; and Lahn, Bruce T. Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens Science 309(5741): 1720-2, September 9, 2005. doi: 10.1126/science.1116815.
Nott, Josiah Clark, and Gliddon, George R. Types of Mankind. Philadelphia: Lippincott, 1854.
[The discussion of “survival of the fittest” begins on page 444 of this digital version at Bayerische StaatsBibliothek (The Bavarian
State Library). Click on the three red bars in the upper left-hand corner to advance a page. To download a .pdf file of the book, go here, click on "Ja" and "Weiter" and then click on the highlighted PDF file]
Vitti, Joseph J.; Cho, Mildred K.; Tishkoff, Sarah A.; and Sabeti, Pardis C. Human Evolutionary Genomics: Ethical and Interpretive Issues. Trends in Genetics: TIG 28(3):137-45, March 2012. doi: 10.1016/j.tig.2011.12.001
