Other Factors to Consider

The lack of a "revolution" following the Human Genome Project may indicate that researchers are not going about studying the link between genes and disease the right way, says Stephan Hall in this month's Scientific American. Proponents of the project foresaw personalized medicine as a possibility by 2010, but now Hall says "the scientific community finds itself sobered and divided." The dividing question is: do common genetic variants cause disease, or do rare genetic variants? The Broad's Eric Lander and others say that disease-associated SNPs found through GWAS are pointing out pathways that may be important clinically. However, Duke's David Goldstein says that it is "astonishing" that looking at so many common genetic variants has led to knowing so little about what causes disease. Genes and proteins may not be the end-all and be-all of disease biology, as some "brave voices" tell Hall. "Traditional genetics, they say, may not capture the molecular complexity of genes and their role in disease," Hall writes, listing epigenetics, RNAi, and regulatory interactions as other factors that may affect disease.