Genetic Testing and Screening

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Recommended: The pros and cons of genetic testing

Genetics provide powerful knowledge that is changing humanity’s view of itself and its relation to rest of the universe. Genetic, cytogenetic and molecular genetic studies showed the relatedness of human being to other living things on the planet, including plants, fungi and bacterium (4). Little change in DNA contributes to human variations. So, genomic variations of human species are being studied through DNA analysis from populations, families, and individuals worldwide.

Human Genome Project (HGP) was proposed in the 1980s and was formally initiated in 1990. Its specific goals are to map and determine the chemical sequences of the three billion nucleotide base pairs that comprise the human genome. Completion of the HGP in the projected 15 years will provide a source book for biology and medicine (5). The Human Genome Diversity Project (HGDP) complements the HGP by examining the genomic variation of the human species, through analysis of DNA from populations, families and individuals worldwide. This will help us to understand the fundamental unity of humankind, human biological history, population movements, and susceptibility to resistance to various human diseases. HGDP ran into heavy fire on ethical grounds and fears that it might violate indigenous people’s rights, however, and it remains stalled for lack of funds (7).

A large proportion of human health has a genetic basis. Abnormal forms of a single or a group of genes that are passed from generation to generation causes inherited genetic diseases. Diseases like Alzheimer’s, familial breast cancer, cystic fibrosis are inherited as single gene and are characterized at molecular level (4). Many genes along with environmental interactions control diseases like hypertension, diabetes, and various forms of cancer and infections. These diseases are also being investigated using molecular approach. So, genomic information on human sp. will be a valuable tool to judge an individual, a family or a population, which ultimately help to genetic screening.

Genetic Screening

The national Academy of Sciences (NAS) defines genetic screening as the systematic search of populations for persons with latent, early, or a symptomatic disease. Some of the literature annotated for this Scope Note appears to use the terms ‘screening’ and ‘genetic testing’ interchangeable. Genetic screening, the systematic search for persons with a particular genotype in a defined population serves as an important adjunct of modern preventive medicine. Such screening has the potential to lessen the devastating impact of genetic disease. The usual purpose is to identify persons whose genotype places them or their offspring at risk for a genetic disease (9).

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