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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.

The Scan

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.

Estonian Biobank Team Digs into Results Return Strategies, Experiences

Researchers in the European Journal of Human Genetics outline a procedure developed for individual return of results for the population biobank, along with participant experiences conveyed in survey data.

Rare Recessive Disease Insights Found in Individual Genomes

Researchers predict in Genome Medicine cross-population deletions and autosomal recessive disease impacts by analyzing recurrent nonallelic homologous recombination-related deletions.

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.