The human genome project: implications for the endocrinologist

The sequencing of the human genome is a major achievement of our time. This article reviews the process and current status of the working draft sequence, ways to predict genes and assign function, and conclusions for human biology. Gene density is uneven and related to chromosome banding patterns, and the estimate of approximately 30,000 genes is lower than expected. Genetic maps for men and women differ from each other and from the physical map. Single nucleotide polymorphisms occur at an average spacing of 1 kb. Human populations are 99.99% identical, and most sequences are shared between people from different continents. To illustrate the tools for accessing the human genome sequence, searches were performed for genes encoding three categories of growth-related proteins, insulin-like growth factor-I (IGF-I) receptor, IGF-binding proteins and growth hormone receptor. The results revealed novel details about their genomic organization and new predicted transcripts. Impacts on medicine are promised in the fields of diagnostics (development of new tests), therapeutics (identification of new potential drug targets) and pharmacogenomics (streamlining of drug discovery and personalized medicine). Associated ethical, legal and social implications and controversies include genetic determinism, informed consent, privacy and confidentiality, ownership of genetic information in the biotechnology marketplace, and access to genetic healthcare.