TY - JOUR
T1 - GenomeDiver
T2 - a platform for phenotype-guided medical genomic diagnosis
AU - Pearson, Nathaniel M.
AU - Stolte, Christian
AU - Shi, Kevin
AU - Beren, Faygel
AU - Abul-Husn, Noura S.
AU - Bertier, Gabrielle
AU - Brown, Kaitlyn
AU - Diaz, George A.
AU - Odgis, Jacqueline A.
AU - Suckiel, Sabrina A.
AU - Horowitz, Carol R.
AU - Wasserstein, Melissa
AU - Gelb, Bruce D.
AU - Kenny, Eimear E.
AU - Gagnon, Charles
AU - Jobanputra, Vaidehi
AU - Bloom, Toby
AU - Greally, John M.
N1 - Funding Information:
Research reported in this publication was part of the NYCKidSeq project, supported by the National Human Genome Research Institute and National Institute for Minority Heath and Health Disparities of the National Institutes of Health under award number 1U01HG0096108.
Publisher Copyright:
© 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.
PY - 2021/10
Y1 - 2021/10
N2 - Purpose: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient’s phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patient’s disease. We have developed GenomeDiver to provide a user interface for clinicians that allows more effective collaboration with the clinical diagnostic laboratory, with the goal of improving the success of the diagnostic process. Methods: GenomeDiver uses genomic data to prompt reverse phenotyping of patients undergoing genetic testing, enriching the amount and quality of structured phenotype data for the diagnostic laboratory, and helping clinicians to explore and flag diseases potentially causing their patient’s presentation. Results: We show how GenomeDiver communicates the clinician’s informed insights to the diagnostic lab in the form of HPO terms for interpretation of genomic sequencing data. We describe our user-driven design process, the engineering of the software for efficiency, security and portability, and examples of the performance of GenomeDiver using genomic testing data. Conclusion: GenomeDiver is a first step in a new approach to genomic diagnostics that enhances laboratory–clinician interactions, with the goal of directly engaging clinicians to improve the outcome of genomic diagnostic testing. Graphical Abstract: [Figure not available: see fulltext.].
AB - Purpose: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient’s phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating terms used to prioritize genes potentially causing the patient’s disease. We have developed GenomeDiver to provide a user interface for clinicians that allows more effective collaboration with the clinical diagnostic laboratory, with the goal of improving the success of the diagnostic process. Methods: GenomeDiver uses genomic data to prompt reverse phenotyping of patients undergoing genetic testing, enriching the amount and quality of structured phenotype data for the diagnostic laboratory, and helping clinicians to explore and flag diseases potentially causing their patient’s presentation. Results: We show how GenomeDiver communicates the clinician’s informed insights to the diagnostic lab in the form of HPO terms for interpretation of genomic sequencing data. We describe our user-driven design process, the engineering of the software for efficiency, security and portability, and examples of the performance of GenomeDiver using genomic testing data. Conclusion: GenomeDiver is a first step in a new approach to genomic diagnostics that enhances laboratory–clinician interactions, with the goal of directly engaging clinicians to improve the outcome of genomic diagnostic testing. Graphical Abstract: [Figure not available: see fulltext.].
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U2 - 10.1038/s41436-021-01219-5
DO - 10.1038/s41436-021-01219-5
M3 - Article
C2 - 34113009
AN - SCOPUS:85107488850
SN - 1098-3600
VL - 23
SP - 1998
EP - 2002
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 10
ER -
