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Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing[1]. Many genetic tests identify DNAvariants; others measure biochemical markers or an-alyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and afeware used for newborn screening[2]. Agrowing number of genetic tests may have population-based applications.This includes determining the risk of developing a disease or condition in the future (e.g., predictive testing forbreast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medi-cines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.
Genetic tests for about1 000 health conditions have been developed, of which more than 600 are currently a-vailable for clinical testing [1]. Many genetic tests identify DNAvariants; others measure biochemical markers or an-alyze chromosomes. Most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, and afeware used for newborn screening [2]. Agrowing number of genetic tests may have population-based applications. This includes determining the risk of developing a disease or condition in the future (eg, predictive testing forbreast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medi-cines (pharmacogenomics). These genetic tests, therefore, have the potential for broad public health impact.