Genetic Testing Clinical Reference For Clinicians …

Posted: January 30, 2015 at 1:42 am

GENETIC TESTING TIME TOOLA Resource from the American College of Preventive Medicine

CLINICAL REFERENCEThe following Clinical Reference Document provides the evidence to support the Genetic Testing Time Tool. The following bookmarks are available to move around the Clinical Reference Document. You may also download a printable version for future reference.

Human genomics, the study of structure, function, and interactions of all genes in the human genome, promises to improve the diagnosis, treatment, and prevention of disease. The proliferation of genetic tests has been greatly accelerated by the Human Genome Project over the last decade. [1]

Meanwhile, practicing physicians and health professionals need to be trained in the principles, applications, and the limitations of genomics and genomic medicine. [2]

Over 1,500 genetic tests are now available clinically, with nearly 300 more available on a research basis only. The number of genetic tests is predicted to increase by 25% annually. [3] There is a boom in the development of genetic tests using the scanning technology from the Genome Project, but questions remain regarding the validity and usefulness of these newer tests.

Genotype: The genetic constitution of the individual; the characterization of the genes. [6]

Phenotype: The observable properties of an individual that are the product of interactions between the genotype and the environment. [6] Nucleotides: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. [6]

Oligonucleotide: A relatively short single-stranded nucleic-acid chain usually consisting of 2 to 20 nucleotides that is synthesized to match a region where a mutation is known to occur, and then used as a probe. [6]

Single nucleotide polymorphism (SNP): A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. [6]

Penetrance: The probability of developing the disease in those who have the mutation. [6]

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