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Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

Center for Human and Clinical Genetics Leiden University Medical Center PO Box 9600 Leiden, 2300 RC, The Netherlands

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Molecular genetic testing is a fast-growing diagnostic discipline. Only a few decades have passed since Kan and Dozy (1) described the first DNA test, which used a restriction enzyme digestion to test for sickle cell disease, and my group (2) reported the first use of linked DNA markers for first-trimester prenatal diagnosis of Duchenne muscular dystrophy. Since then, molecular genetic testing with direct or indirect mutation detection has been widely applied to confirm the clinical diagnosis for many monogenetic disorders and to determine carrier status. It also has been applied to predict presymptomatic cases and to predict, early in pregnancy, whether a fetus will be affected with a severe disorder.

Because the complete human genome (sequence) became available in 2003, molecular genetic testing will be applied more widely every day. Risk assessments for multifactorial disorders will gain more attention, as will predictions of genotypes that increase the possibility of adverse outcomes when certain drugs are used (pharmacogenomics).

Genetic information usually does not change throughout an individual’s life; therefore, the sequence of a gene need be determined only once in a person’s lifetime. For this reason, the outcome of a genetic test should be unambiguous, time resistant, and universal in nomenclature. The "DNA sequence of a gene" or "of a gene region" is often perceived as the ultimate result of a molecular genetic test. If we consider the nucleotide (A, T, G, or C) as the "SI unit" for DNA, then a nucleotide sequence comes as close to a gold standard as one can get in terms of a genetic . . . [Full Text of this Article]

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