# Automated and Guided Workflows for Clinical Testing Using NGS Assays

> **NIH NIH R44** · GOLDEN HELIX, INC. · 2020 · $649,744

## Abstract

The work done in a genetic laboratory to process a sample requires many detailed-oriented steps and a wealth
of individual and institutional knowledge. The output of this process often has a significant impact on a patient’s
outcome and wellbeing. At the same time, the work is repetitive and requires the handling of large test volumes
under the time pressures inherent in medical procedures. This is particularly the case with next-generation
sequencing (NGS) based tests, which are increasingly used to diagnose rare diseases, analyze mutation profiles
of tumors, offer reproductive genetic services and perform newborn genetic screening. Existing software solution
in this space have taken steps to make the overall work for a clinician simpler. Still, the efforts have not addressed
the dependency on expert judgment and the following of detailed and often complex procedures to complete a
genetic test. This environment lends itself to the application of workflow automation capabilities. The key benefits
for the clinical users are the following:
 1. Minimizing the potential for error: Workflow automation ensures essential and necessary tasks from
 going unnoticed. With tasks and the personnel that perform them being compressively tracked, workflow
 automation saves labs from far reaching and potentially very costly expenses associated with lab
 personnel errors.
 2. Reducing costs and increasing throughput: Integrating internal communication into the workflow
 platform reduces the overhead required to conduct clinical work and stay compliant. The result is more
 work can be done with the same personnel.
 3. Creating accountability and reducing subjectivity: As the complex rules and institutional knowledge
 of a laboratory gets codified into a workflow, every analytical step can be assigned and attributed to
 individual lab personnel while reducing the amount of choices made outside the system also reduces
 variance of outcomes attributed to operator subjectivity.
In this project, we bring all elements of the clinical workflow for next-generation sequencing together. This
includes the detection of single nucleotide variations and copy number variations, the annotation and clinical
assessment of those variants, the storing of the finalized report and all associated data in a genetic data
warehouse. This project will also cover the automation of the informatics that enable a decision support system
capable of implementing variant classification guidelines such as those by the American College of Medical
Genetics, Association of Molecular Pathology and other leading industry bodies.

## Key facts

- **NIH application ID:** 9894817
- **Project number:** 5R44GM128485-03
- **Recipient organization:** GOLDEN HELIX, INC.
- **Principal Investigator:** Andreas Scherer
- **Activity code:** R44 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $649,744
- **Award type:** 5
- **Project period:** 2018-03-15 → 2021-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9894817

## Citation

> US National Institutes of Health, RePORTER application 9894817, Automated and Guided Workflows for Clinical Testing Using NGS Assays (5R44GM128485-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9894817. Licensed CC0.

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