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Clinical Exome Reanalysis: Current Practice and Beyond
Jianling Ji1,2, Marco L Leung3,4, Samuel Baker5
1Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Molecular Diagnosis & Therapy
|July 20, 2021
Summary
Reanalyzing exome sequencing data offers new molecular diagnoses through technological advances and collaborations. Integrating electronic health records and knowledge databases can enhance exome reanalysis utility.
Area of Science:
- Genomics
- Bioinformatics
- Clinical Diagnostics
Background:
- Exome sequencing data reanalysis is increasingly vital for novel molecular diagnoses.
- Advancements in technology, bioinformatics, and gene-disease databases drive new discoveries.
Purpose of the Study:
- To review the advantages and challenges of clinician- and laboratory-initiated exome reanalysis.
- To propose a future model for maximizing the clinical utility of exome reanalysis.
Main Methods:
- Review of current literature and practices in exome data reanalysis.
- Proposal of an integrated model incorporating electronic medical records and knowledge databases.
Main Results:
- Exome reanalysis holds significant potential for identifying additional molecular diagnoses.
- Systematic reanalysis requires automation, updated phenotype information, and robust databases.
Conclusions:
- Collaboration and technological integration are key to advancing exome reanalysis.
- A proposed model aims to enhance clinical utility by embedding reanalysis into routine workflows.
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