Genetics has provided knowledge that is changing humanity's view of itself and its relation to the rest of the universe. This has brought changes of our current philosophies and religions. For instance, the catholic church has accepted the evolution theory (1). Genetic, cytogenetic and molecular studies show that we are related to every living thing on the planet, including plants, fungi and bacterium (6)
An important area in which current genetic knowledge is causing revolution is anthropological science (14). DNA of the human specie carries more or less the same set of DNA, but small variations in the DNA contributes to human variations. So, genomic variations of the human specie are being studied, through analysis of DNA from populations, families, and individuals worldwide. Ancient DNA is used for to do studies of evolution.
Many genetic diseases may be detected early
Medicine is a very important area in which genetics is a powerful tool. Indeed, a large proportion of human health has a genetic basis. Inherited genetic diseases are caused by abnormal forms of a single or a group of genes that are passed on from one generation to the next. Some single genes responsible for inherited genetic diseases, such as the ones responsible for familial Alzheimer's disease, familial breast cancer and cystic fibrosis (6) are being isolated and characterized at molecular level. More complex human hereditary disorders, those which are caused by the interaction of several genes, also interacting with the environment, such as heart diseases, hypertension, diabetes, various forms of cancer and infections, are also being investigated using a molecular approach (13).
HGP and HGDP a great international effort
Many countries are developing a collaborative effort to obtain the complete human genetic sequence and measure the diversity of the human specie (4, 10). The Human Genome Project (HGP) was formally initiated in 1990 and has, as its specific goal, the identification of every human gene and the sequencing of the entire genome. Completion of the HGP within the projected 15 years will provide a source book of biology and medicine. The Human Genome Diversity Project (HGDP) is an international scientific endeavor that complements the HGP. Its objective is to help us understand the fundamental unity of the humankind, human biological history, population movements and susceptibility or resistance to various human diseases.
What is genetic screening?
Realization of these great projects and others like them, requires the collecting, sequencing and comparison of many DNA genomes from different individuals and populations. In other words, it requires a massive and exhaustive genetic screening of individuals and populations.
Some institution such as the U.S. Congress Office of Technology Assessment (OTA) differentiates genetic testing from genetic screening. The first is defined as "the use of specific assays to determine the genetic...