NGS in the Clinical Lab – Analysis and Interpretation of Data
Honey V Reddi,
Clinical Laboratory Director,
The Jackson Laboratory
Next-generation sequencing technologies are currently widely used in the clinical setting, enabling rapid transformations in genomic medicine, due to their ability to sequence massive amounts of data. These technologies have allowed for the evaluation of an individual's exome or genome to assist in the diagnosis of a wide array of clinical scenarios to assist in the treatment and management of patients, including therapeutic decision making and disease prediction for at-risk patients. Given the scale of information that is generated, the efficacy of an NGS test depends on a number of factors, including the regions evaluated, genes present on the panel, pre and post bioinformatic analysis protocols, as well as reporting criteria. This talk will present an overview of the steps involved in NGS test development, analysis of the vast amount of data generated and the tools used for variant annotation and interpretation. Also presented will be the American College of Medical Genetics and Genomics professional standards and guidelines developed 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.
|
|
