Public health impact of genetic tests at the end of the 20th century.

作者: Paula W Yoon , Bin Chen , Andrew Faucett , Mindy Clyne , Marta Gwinn

DOI: 10.1097/00125817-200111000-00005

关键词: Environmental healthDiseaseClinical testsNewborn screeningPopulationGenetic counselingGenetic testingPublic healthPediatricsMEDLINEMedicine

摘要: Purpose: To evaluate genetics tests available for clinical, research, and public health purposes in terms of their impact as measured by the number people who could potentially be tested. Methods: Genetic 751 inherited diseases or conditions listed GeneTests database November 2000, were classified on basis use population-based testing prevalence disease condition being The divides into two groups: those offered clinical research only. Results: Of 423 tests, 51 had greater because statewide newborn screening programs, other population common with a over 1 2,000 people. Among 328 performed only, 18 met criteria impact. Conclusions: Our classification scheme indicated that fewer than 10% genetic at end 2000 are highly relevant to health. majority used diagnosis and/or counseling rare, single-gene disorders limited However, more considered screening, associations between genes discovered, is likely increase.

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