Neptune: an environment for the delivery of genomic medicine.

ABSTRACT:

Purpose

Genomic medicine holds great promise for improving health care, but integrating searchable and actionable genetic data into electronic health records (EHRs) remains a challenge. Here we describe Neptune, a system for managing the interaction between a clinical laboratory and an EHR system during the clinical reporting process.

Methods

We developed Neptune and applied it to two clinical sequencing projects that required report customization, variant reanalysis, and EHR integration.

Results

Neptune has been applied for the generation and delivery of over 15,000 clinical genomic reports. This work spans two clinical tests based on targeted gene panels that contain 68 and 153 genes respectively. These projects demanded customizable clinical reports that contained

SUBMITTER: Eric V 

PROVIDER: S-EPMC8487966 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature