Background

The current practices to the medical genomic diagnostics illustrated in are inefficient. Phenotypic information shared by the caregivers is often limited and unstructured. There is a single opportunity to receive the information by the diagnostic laboratory, pertinent negative findings are not captured, and there is no opportunity for dialogue between the laboratory and the clinical care team based on what was found in the genomic sequence. GenomeDiver addresses all these issues.

Technology Overview

GenomeDiver is a software platform that mediates communication between the patient’s caregivers (physicians, genetic counselors, and advanced practice providers) and the diagnostic laboratory, analyzing the patient’s genetic sequence information. The software’s goal is to improve the delivery of phenotypic information from the caregivers to the laboratory to better the rate and accuracy of diagnostics.

Stage of Development

At present, the approach for selecting Human Phenotype Ontology (HPO) terms by caregivers for categorization is deliberately simple and can be improved in the future.
Improve the heuristics to present even more informative HPO terms within GenomeDiver.
The software uses patient health information and genomic sequences, that are very sensitive data. It is therefore essential to make the software system capable of being installed locally at clinical diagnostic laboratories.
Develop the ability of GenomeDiver to communicate with electronic health record (EHR) systems, allowing it to be accessed from within the EHR and linked to the test requisition and results. This will greatly facilitate its ease of use and adoption throughout health care systems.
A clinical trial of GenomeDiver is underway as part of NYCKidSeq, which should be completed by Q2 of 2021, to demonstrate the value of the product.

Benefits

GenomeDiver is unique due to its combination of algorithmic scoring and human intervention and has no obvious competition.
There are resources (for example PhenoTips) that allow a set of HPO terms present in a patient to be loaded, generating a list of genes ranked by the number of matching HPO terms. What theseresources do not is to integrate this with the genomic findings in the same patient.

Applications

Improve the quality and quantity of the phenotypic information received by the diagnostic laboratory, to help deliver accurate diagnosis.
Dialogue tool between caregivers and diagnostic laboratory.

GenomeDiver: Software Platform for Enhanced Medical Genomic Diagnostics

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