About this Biochemistry, Genetics and Molecular Biology article
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing by Robert C. Green; Jonathan S. Berg; Wayne W. Grody; Sarah S. Kalia; Bruce R. Korf; Christa L. Martin; Amy L. McGuire; Robert L. Nussbaum; Julianne M. O’Daniel; Kelly E. Ormond; Heidi L. Rehm; Michael S. Watson; Marc S. Williams; Leslie G. Biesecker is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
Exome and genome sequencing (collectively referred to in this report as clinical sequencing) are rapidly being integrated into the practice of medicine. 1,2 The falling price of sequencing, coupled with advanced bioinformatics capabilities, is creating opportunities to use sequencing in multiple medical situations, including the molecular characterization of rare diseases, the individualization of treatment (particularly in cancer), pharmacogenomics, preconception/prenatal screening, and population screening for disease risk. 3,4 In all of these applications, there is a potential for the recognition and reporting of incidental (or secondary) findings, which are results that are not related to the indication for ordering the sequencing but that may nonetheless be of medical value or utility to the ordering physician and the patient. Considerable literature discusses In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statem
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- Author
- Robert C. Green; Jonathan S. Berg; Wayne W. Grody; Sarah S. Kalia; Bruce R. Korf; Christa L. Martin; Amy L. McGuire; Robert L. Nussbaum; Julianne M. O’Daniel; Kelly E. Ormond; Heidi L. Rehm; Michael S. Watson; Marc S. Williams; Leslie G. Biesecker
- Publisher
- Elsevier BV
- Published
- 2013
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)