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Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula

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Abstract

Age-related macular degeneration is a complex, multifactorial, and neurodegenerative disease that is the third cause of blindness after cataracts and glaucoma. To date, there are no effective remedies available for treating the disease. Therefore, the main goal of the scientific community is to uncover the underlying role that both genetics and environmental factors play in the development of the disease. Nevertheless, the complexity of the domain, the heterogeneity of the information, and the massive amounts of existing data hinder the daily work of clinical experts to provide an accurate diagnosis and treatment. In this work, we present how clinicians can benefit from the development of ontologically well-grounded information systems to support the management of both clinical and genomic data. First, we summarize the results obtained in a previous work that cover the clinical perspective using an information system called G-MAC, that has been specially developed for the management of clinical data. Then, we present the results of an exhaustive study of the genetic factors of age-related macular degeneration by using an information system that was developed with the aim of enhancing the management of complex genomic data. Finally, we state how the connection of both perspectives through the use of conceptual models can benefit clinicians and patients through a more accurate Medicine of Precision.

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Notes

  1. https://www.savesightinstitute.org.au/research-units/save-sight-registries/fight-retinal-blindness/.

  2. G-MAC, https://genomics-hub.pros.dsic.upv.es:4000/#/login.

  3. Angular-CLI (command line interpreter), https://angular.io/cli

  4. https://www.w3schools.in/mvc-architecture/

  5. http://www.pros.webs.upv.es/

  6. https://www.ncbi.nlm.nih.gov/clinvar/

  7. http://www.ensembl.org/index.html

  8. https://www.lovd.nl/

  9. https://www.ncbi.nlm.nih.gov/snp/

  10. https://pubmed.ncbi.nlm.nih.gov/

  11. https://www.ebi.ac.uk/gwas/

  12. https://vrain.upv.es/

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Acknowledgements

The authors would like to thank the members of the PROS Research Center Genome group for the fruitful discussions regarding the application of CM in the medical field. This work was supported by the Valencian Innovation Agency and Innovation through the OGMIOS project (INNEST/2021/57), the Preparatory Action - UPV-FISABIO (A36-G-MAC, 2019), the Generalitat Valenciana through the CoMoDiD project (CIPROM/2021/023), and the Spanish State Research Agency through the DELFOS (PDC2021-121243-I00) and SREC (PID2021-123824OB-I00) projects, MICIN/AEI/10.13039/501100011033 and co-financed with ERDF and the European Union Next Generation EU/PRTR.

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Authors and Affiliations

  1. VRAIN Research Institute, Universitat Politècnica de València, Alicante, Spain

    José Fabián Reyes Román, Ana León Palacio, Alberto García Simón & Oscar Pastor

  2. Ophthalmology Service, Hospital Vega Baja de Orihuela, Orihuela, Spain

    Rubén Cabrera Beyrouti

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  1. José Fabián Reyes Román
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  2. Ana León Palacio
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  4. Rubén Cabrera Beyrouti
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Correspondence to José Fabián Reyes Román.

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Communicated by Iris Reinhartz-Berger, Jelena Zdravkovic, and Asif Gill.

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Reyes Román, J.F., León Palacio, A., García Simón, A. et al. Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula. Softw Syst Model 22, 159–174 (2023). https://doi.org/10.1007/s10270-022-01039-4

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