Disease coverage of human genome-wide association studies and pharmaceutical research and development.
Journal
Communications medicine
ISSN: 2730-664X
Titre abrégé: Commun Med (Lond)
Pays: England
ID NLM: 9918250414506676
Informations de publication
Date de publication:
08 Oct 2024
08 Oct 2024
Historique:
received:
05
06
2024
accepted:
25
09
2024
medline:
9
10
2024
pubmed:
9
10
2024
entrez:
8
10
2024
Statut:
epublish
Résumé
Despite the growing interest in the use of human genomic data for drug target identification and validation, the extent to which the spectrum of human disease has been addressed by genome-wide association studies (GWAS), or by drug development, and the degree to which these efforts overlap remain unclear. In this study we harmonize and integrate different data sources to create a sample space of all the human drug targets and diseases and identify points of convergence or divergence of GWAS and drug development efforts. We show that only 612 of 11,158 diseases listed in Human Disease Ontology have an approved drug treatment in at least one region of the world. Of the 1414 diseases that are the subject of preclinical or clinical phase drug development, only 666 have been investigated in GWAS. Conversely, of the 1914 human diseases that have been the subject of GWAS, 1121 have yet to be investigated in drug development. We produce target-disease indication lists to help the pharmaceutical industry to prioritize future drug development efforts based on genetic evidence, academia to prioritize future GWAS for diseases without effective treatments, and both sectors to harness genetic evidence to expand the indications for licensed drugs or to identify repurposing opportunities for clinical candidates that failed in their originally intended indication. The pharma industry has shown growing interest in the use of human genomic data to support drug development and reduce the risk of clinical-stage failure. We investigate the extent to which human diseases have been the subject of genetic studies, of pharmaceutical research and development, or both. We show that only a small proportion of all human diseases have an approved drug treatment and that less than half of all the diseases that are the subject of preclinical or clinical phase drug development have been investigated in genetic studies. In addition, approximately two-thirds of the diseases covered in genetic studies have yet to be investigated in drug development. These findings could help prioritize drug development efforts or genetic studies for diseases without effective treatments.
Sections du résumé
BACKGROUND
BACKGROUND
Despite the growing interest in the use of human genomic data for drug target identification and validation, the extent to which the spectrum of human disease has been addressed by genome-wide association studies (GWAS), or by drug development, and the degree to which these efforts overlap remain unclear.
METHODS
METHODS
In this study we harmonize and integrate different data sources to create a sample space of all the human drug targets and diseases and identify points of convergence or divergence of GWAS and drug development efforts.
RESULTS
RESULTS
We show that only 612 of 11,158 diseases listed in Human Disease Ontology have an approved drug treatment in at least one region of the world. Of the 1414 diseases that are the subject of preclinical or clinical phase drug development, only 666 have been investigated in GWAS. Conversely, of the 1914 human diseases that have been the subject of GWAS, 1121 have yet to be investigated in drug development.
CONCLUSIONS
CONCLUSIONS
We produce target-disease indication lists to help the pharmaceutical industry to prioritize future drug development efforts based on genetic evidence, academia to prioritize future GWAS for diseases without effective treatments, and both sectors to harness genetic evidence to expand the indications for licensed drugs or to identify repurposing opportunities for clinical candidates that failed in their originally intended indication.
The pharma industry has shown growing interest in the use of human genomic data to support drug development and reduce the risk of clinical-stage failure. We investigate the extent to which human diseases have been the subject of genetic studies, of pharmaceutical research and development, or both. We show that only a small proportion of all human diseases have an approved drug treatment and that less than half of all the diseases that are the subject of preclinical or clinical phase drug development have been investigated in genetic studies. In addition, approximately two-thirds of the diseases covered in genetic studies have yet to be investigated in drug development. These findings could help prioritize drug development efforts or genetic studies for diseases without effective treatments.
Autres résumés
Type: plain-language-summary
(eng)
The pharma industry has shown growing interest in the use of human genomic data to support drug development and reduce the risk of clinical-stage failure. We investigate the extent to which human diseases have been the subject of genetic studies, of pharmaceutical research and development, or both. We show that only a small proportion of all human diseases have an approved drug treatment and that less than half of all the diseases that are the subject of preclinical or clinical phase drug development have been investigated in genetic studies. In addition, approximately two-thirds of the diseases covered in genetic studies have yet to be investigated in drug development. These findings could help prioritize drug development efforts or genetic studies for diseases without effective treatments.
Identifiants
pubmed: 39379679
doi: 10.1038/s43856-024-00625-5
pii: 10.1038/s43856-024-00625-5
doi:
Types de publication
Journal Article
Langues
eng
Pagination
195Subventions
Organisme : British Heart Foundation (BHF)
ID : FS/17/70/33482
Informations de copyright
© 2024. The Author(s).
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