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Understanding Gene Testing


Genes - the chemical messages of heredity - constitute a blueprint of our possibilities and limitations. The legacy of generations of ancestors, our genes carry the key to our similarities and our uniqueness.

When genes are working properly, our bodies develop and function smoothly. But should a single gene - even a tiny segment of a single gene - go awry, the effect can be dramatic: deformities and disease, even death.

In the past 20 years, amazing new techniques have allowed scientists to learn a great deal about how genes work and how genes are linked to disease. Increasingly, researchers are able to identify mutations, changes within genes that can lead to specific disorders. Tests for gene mutations make it possible not only to detect diseases already in progress but also, in certain situations, to foresee diseases yet to come.

This new ability raises both high hopes and grave concerns. On the one hand, predictive gene testing holds out the possibility of saving thousands of lives through prevention or early detection. On the other, the implications of test results are enormous, not only for the individual but also for relatives who share this genetic legacy, and for society as a whole.

This booklet presents key concepts and issues relevant to gene testing and answers questions that are frequently asked about the techniques, potential risks, and possible benefits of attempts to link genetic markers with disease. Words that appear underlined in the pages that follow are defined in the Glossary. Clicking on these words will take you to the glossary. From there press the browser's back button to return.

cell and dna
DNA, which carries the instructions that allow cells to make proteins, is made up of four chemical bases. Tightly coiled strands of DNA are packaged in units called chromosomes, housed in the cell's nucleus. Working subunits of DNA are known as genes.

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