作者: A. L. McGuire , S. Joffe , B. A. Koenig , B. B. Biesecker , L. B. McCullough
关键词: Psychology 、 Medical genetics 、 Medical education 、 Disease 、 Ethical framework 、 Mechanism (biology) 、 Bioinformatics 、 Extramural 、 MEDLINE 、 Genetic testing 、 Genomics
摘要: The American College of Medical Genetics and Genomics (ACMG) recently issued a statement ( 1 ) recommending that all laboratories conducting clinical sequencing seek report pathogenic expected mutations for short list carefully chosen genes conditions. recommendations establish baseline reporting clinically relevant incidental findings articulate ethical principles to their disclosure. ACMG acknowledged the will evolve over time is developing mechanism community input 2 ). This paper focuses on framework recommendations, rather than choice which include list.