The genomic era has produced an extensive catalog of human genes and genetic variation that is expected to become even more detailed with the addition of the rich data emerging from the 1000 Genomes Project (http://www.1000genomes.org).1 This impressive catalog of human sequence variation coupled with new, rapid DNA sequencing technologies is making it possible to efficiently identify genetic variants in individual patients.2 Technologically, these advances are remarkable and are an important step toward clinical applications, including personalized medicine. However, as DNA sequence becomes increasingly accessible, it also becomes increasingly apparent that we know very little about how human genetic variation influences health and disease. Our challenge no longer is obtaining DNA sequence but now is to understand what the DNA sequence means. Before personal genomic sequence can be useful clinically, DNA sequences, or genotypes, must be correlated with clinical outcomes and phenotypes.
Wiggs JL. Genotypes Need Phenotypes. Arch Ophthalmol. 2010;128(7):934-935. doi:10.1001/archophthalmol.2010.108