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Hum Genet ; 135(6): 655-73, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27167135

RESUMO

In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical laboratories. This has led to increased presence in the diagnostic marketplace, increased consumer awareness, and the question has been raised by various stakeholders to whether there is sufficient stringent regulation of WES and other NGS-based tests. We discuss the various WES services currently available in the marketplace, current regulation of WES as a laboratory developed test, the proposed FDA involvement in its oversight as well as the response of various laboratory groups that provide these diagnostic services. Overall, a rigorous process oversight and assessment of inter-lab reproducibility is strongly warranted for WES as it is used as a diagnostic test, but regulation should be mindful of the excessive administrative burden on academic and smaller diagnostic laboratories.


Assuntos
Testes Diagnósticos de Rotina , Exoma/genética , Sequenciamento de Nucleotídeos em Larga Escala/tendências , Patologia Molecular/tendências , Testes Genéticos , Genoma Humano , Humanos
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