Commentary in 2003

Genomic profiling has the potential to usher in a revolution of personalized healthcare and disease prevention. But evidence to support genomic profiling is inconsistent, and data on the health outcome benefits based on such testing are lacking. For genomic profiling to become valid and useful, well designed epidemiologic studies and thorough clinical evaluations of recommended interventions based on genotype are required.

A principal goal of genetic research is to identify specific genotypes that are associated with human phenotypes. It will soon be possible to conduct genome-wide genotyping on a massive scale. Our current approaches for defining and assaying phenotypes may be inadequate for making optimal use of such genotypic data. We propose an international effort to create phenomic databases, that is, comprehensive assemblages of systematically collected phenotypic information, and to develop new approaches for analyzing such phenotypic data. We term this effort the Human Phenome Project and suggest a scientific and organizational scope for the project.