ACMG clinical laboratory standards for next-generation sequencing

By H. Rehm, S. Bale, P. Bayrak-Toydemir, J. Berg, Kerry K. Brown, Joshua L. Deignan, M. Friez, Birgit Funke, M. Hegde, E. Lyon. Genetics in Medicine, 2013

907 citations recorded by the source corpus.

Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual’s near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines.Genet Med 15 9, 733–747.Genetics in Medicine (2013); 15 9, 733–747. doi:10.1038/gim.2013.92

Subfields: Cancer Research, Genetics, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/56241e4de28ee54e554e1a90deec9bc05f0d6b35

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Citations in the corpus

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity (2016, background): “It is critical to avoid both overfiltering, which excludes causative variants, and underfiltering, which leaves an impractical number of variants to review 12 .”
Integrated digital error suppression for improved detection of circulating tumor DNA (2016, neutral): “In addition to variant-level assessments, we also evaluated biopsy-free genotyping performance at the patient level due to its greater clinical relevance for personalized cancer therapy selection 40 .”
A systematic approach to assessing the clinical significance of genetic variants (2013, methodology): “ACMG has provided guidelines for variant assessment (4, 7), but a consensus structured framework ensuring evidence-based classifications that can be easily adopted by individual laboratories is currently missing.”