PC2060: Fast Electronic Tools for Curating Historical Genetic Reports: A Novel Clinician Facing Application for Streamlining Genetic Report Management

Background: Genetic test results are often recorded as static documents, however report interpretation is dynamic. Interpretations of genetic variants can change over time as more data is accumulated resulting in updated clinical implications for patients. In cancer genetics up to 25% of variants of uncertain significance (VUS) are reclassified requiring clinicians to amend reports and reengage with patients. Clinicians do not currently have a mechanism to easily query historic genetic results to identify patients who may need an updated interpretation of their genetic test results or who may be eligible for a targeted intervention (such as genomic based dosing guidelines).

To overcome these limitations in genetic report curation we developed Fast Electronic Tools for Curating Historical Genetic Reports (FETCH-GR), a clinician facing interface to streamline genetic report management and reannotation. Genetic reports can be uploaded to FETCH-GR to create a database on a local secure environment. Once a local FETCH-GR instance is developed, the database can be queried for cohort identification. In this initial analysis of FETCH-GR we pilot the application in managing a tertiary academic pediatric hospital’s pharmacogenomic report repository.

Methods: PyCharm, an integrated development environment, was used to develop FETCH-GR. Beta-testing with end-users using sample data was performed. The application’s efficiency and accuracy in developing genomic based cohorts was tested against manual clinician review. Three potential use cases of the application were explored: variant of uncertain significance (VUS) reclassification, new variant specific guideline counseling, and precision medicine trial enrolment.

Results: FETCH-GR underwent a successful beta launch at Boston Children’s Hospital in the Pharmacogenomics program. End users were able to successfully navigate the user interface with minimal instruction. Clinicians were able to query patients reports in bulk and perform cohort identification. Clinicians navigated through three use cases using FETCH-GR: VUS reclassification, new variant directed counseling and precision medicine trial enrollment (Figure 1). Appropriate cohorts were able to be generated for each of the three tasks in under five minutes. Baseline estimates from clinicians for these tasks ranged from a few hours to a few weeks using existing manual review techniques.

Conclusion: FETCH-GR is a novel tool to allow clinicians to curate and analyze genetic reports. FETCH-GR can accurately build cohorts of patients with similar genetic mutations and can accomplish this task more efficiently than manual clinician review of genetic reports. FETCH-GR can identify patients with VUSs that have been reclassified, identify patients with mutations that have new therapeutic guidelines, and identify patients for potential precision medicine trials. FETCH-GR allows clinicians to more nimbly navigate their repository of genetic testing to provide updated recommendations and potential novel therapies to patients. Further work will evaluate real-world use of FETCH-GR and expand its use beyond pharmacogenomic testing.