Journal Article

ACMG clinical laboratory standards for next-generation sequencing

Rehm, Heidi L., Bayrak-Toydemir, Pinar, Brown, Kerry K., Friez, Michael J., Berg, Jonathan S., Funke, Birgit H., Lyon, Elaine, Hegde, Madhuri R., Bale, Sherri J., Deignan, Joshua L.

2013

Overview

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 Med15 9, 733–747.

• Publisher: Elsevier Inc,Nature Publishing Group US,Elsevier Limited
• Subject: 631/208/1516 / 631/208/514/2254 / ACMG / acmg-practice-guidelines / Biomedical and Life Sciences / Biomedicine / Exome / exome sequencing / Genetic Testing - standards / genome sequencing / Genome, Human / Genomics - methods / guidelines / High-Throughput Nucleotide Sequencing - standards / Human Genetics / Humans / Laboratories - standards / Laboratory Medicine / Medical laboratories / next-generation sequencing / Reproducibility of Results / Sequence Analysis, DNA - instrumentation / Sequence Analysis, DNA - methods / Sequence Analysis, DNA - standards / Translational Research, Biomedical / United States