Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests
Advances in genomic technology including the development of next-generation sequencing (NGS) have enabled the identification of thousands of variations at a time, allowing the discovery of novel genetic diseases. Given the volume of data generated by these investigations, attention is drawn towards reporting relevant clinical features by clinicians to guide the diagnosis and management of their patients. The Human Phenotype Ontology (HPO) developed in 2008, revolutionized the semantic vocabulary of phenotypic descriptions in genomic medicine allowing researchers, laboratories and clinical geneticists to better understand each other. In this era of personalized medicine where genetic tests are becoming more accessible, non-geneticist clinicians are expected to be more involved than ever in the process of ordering genetic tests and interpreting genetic reports. It is therefore essential that they understand and adequately apply HPO nomenclature to integrate the patient care chain and seize the opportunity offered by this tailored language. The current article highlights the importance of using HPO vocabularies in clinical practice and advocates for its wider use by non-geneticist clinicians. Correct use of HPO will reduce misunderstandings between healthcare professionals and ultimately improve the healthcare system.
Differential diagnosis, Genetic testing, Human phenotype ontology, Phenotype
Tchuisseu-Kwangoua, Larissa Ange
e3eb3ab7-2fbf-4eb1-8903-9ce8ddbc30fa
Kamtchum-Tatuene, Joseph
14be204a-f7a6-43d6-ad3f-a8d2efbd2d45
Tekendo-Ngongang, Cedrik
b607aa6c-37a2-4431-b285-664d98ca4f6b
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Self, Jay
0f6efc58-ae24-4667-b8d6-6fafa849e389
28 December 2023
Tchuisseu-Kwangoua, Larissa Ange
e3eb3ab7-2fbf-4eb1-8903-9ce8ddbc30fa
Kamtchum-Tatuene, Joseph
14be204a-f7a6-43d6-ad3f-a8d2efbd2d45
Tekendo-Ngongang, Cedrik
b607aa6c-37a2-4431-b285-664d98ca4f6b
Pengelly, Reuben
af97c0c1-b568-415c-9f59-1823b65be76d
Self, Jay
0f6efc58-ae24-4667-b8d6-6fafa849e389
Tchuisseu-Kwangoua, Larissa Ange, Kamtchum-Tatuene, Joseph, Tekendo-Ngongang, Cedrik, Pengelly, Reuben and Self, Jay
(2023)
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests.
European Journal of Medical Genetics, 66 (2), [104679].
(doi:10.1016/j.ejmg.2022.104679).
Abstract
Advances in genomic technology including the development of next-generation sequencing (NGS) have enabled the identification of thousands of variations at a time, allowing the discovery of novel genetic diseases. Given the volume of data generated by these investigations, attention is drawn towards reporting relevant clinical features by clinicians to guide the diagnosis and management of their patients. The Human Phenotype Ontology (HPO) developed in 2008, revolutionized the semantic vocabulary of phenotypic descriptions in genomic medicine allowing researchers, laboratories and clinical geneticists to better understand each other. In this era of personalized medicine where genetic tests are becoming more accessible, non-geneticist clinicians are expected to be more involved than ever in the process of ordering genetic tests and interpreting genetic reports. It is therefore essential that they understand and adequately apply HPO nomenclature to integrate the patient care chain and seize the opportunity offered by this tailored language. The current article highlights the importance of using HPO vocabularies in clinical practice and advocates for its wider use by non-geneticist clinicians. Correct use of HPO will reduce misunderstandings between healthcare professionals and ultimately improve the healthcare system.
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Accepted/In Press date: 11 December 2022
e-pub ahead of print date: 17 December 2022
Published date: 28 December 2023
Additional Information:
Funding Information:
Dr Tchuisseu-Kwangoua is supported by a scholarship from the Commonwealth Scholarship Commission in the United Kingdom . She receives travel grant, living allowances and tuition fees and a research grant unrelated to the current work from the scholarship. Dr Kamtchum-Tatuene, Dr Tekendo Ngongang, Dr Pengelly and Dr Self declare no potential conflict of interest.
Publisher Copyright:
© 2022 The Authors
Keywords:
Differential diagnosis, Genetic testing, Human phenotype ontology, Phenotype
Identifiers
Local EPrints ID: 473689
URI: http://eprints.soton.ac.uk/id/eprint/473689
ISSN: 1769-7212
PURE UUID: c877b324-9b8b-477e-8d71-f66c03f391f5
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Date deposited: 27 Jan 2023 17:49
Last modified: 15 Aug 2024 04:01
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Author:
Larissa Ange Tchuisseu-Kwangoua
Author:
Joseph Kamtchum-Tatuene
Author:
Cedrik Tekendo-Ngongang
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