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Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. | LitMetric

AI Article Synopsis

  • - Exome sequencing (ES), available since 2011, is a genetic testing method that helps identify genetic causes for patient symptoms, with a diagnostic success rate of 25-40%, and potentially higher in specific scenarios.
  • - Many patients remain undiagnosed due to uninformative results, uncertain significance of genetic variants, or variants not clearly associated with diseases.
  • - A study found that post-exome evaluations, including clinical re-phenotyping and advanced genetic testing methods, led to a diagnosis in about 18% of previously undiagnosed patients, showcasing the importance of ongoing analysis and the use of new technologies in genetic diagnosis.

Article Abstract

Exome sequencing (ES) became clinically available in 2011 and promised an agnostic, unbiased next-generation sequencing (NGS) platform for patients with symptoms believed to have a genetic etiology. The diagnostic yield of ES has been estimated to be between 25-40% and may be higher in specific clinical scenarios. Those who remain undiagnosed may have no molecular findings of interest on ES, variants of uncertain significance in genes that are linked to human disease, or variants of uncertain significance in candidate genes that are not definitively tied to human disease. Recent evidence suggests that a post-exome evaluation consisting of clinical re-phenotyping, functional studies of candidate variants in known genes, and variant reevaluation can lead to a diagnosis in 5-15% of additional cases. In this brief research study, we present our experience on post-exome evaluations in a cohort of patients who are believed to have a genetic etiology for their symptoms. We have reached a full or partial diagnosis in approximately 18% (6/33) of cases that have completed evaluations to date. We accomplished this by utilizing NGS-based methods that are available on a clinical basis. A sample of these cases highlights the utility of ES reanalysis with updated phenotyping allowing for the discovery of new genes, re-adjudication of known variants, incorporating updated phenotypic information, utilizing functional testing such as targeted RNA sequencing, and deploying other NGS-based testing methods such as gene panels and genome sequencing to reach a diagnosis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355124PMC
http://dx.doi.org/10.3389/fgene.2022.887698DOI Listing

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