GenesLove.Me: A Model-based Web-application for Direct-to-consumer Genetic Tests

José Fabián Reyes Román, Carlos Iñiguez-Jarrín, Óscar Pastor López

2017

Abstract

The objective of this work was to enhance personalized medicine through the development and implementation of Genomic Information Systems (GeIS). For this, a web application called “GenesLove.Me” (GLM) was developed to provide direct-to-consumer genetic tests (DCGT). This paper focuses on the development of the business processes (BPMN) and a conceptual model (CM) for GLM, designed to analyze and improve the processes involved in this type of service and provide a model-based platform to manage genetic diagnoses in a scalable, secure and reliable way. Software Engineering (SE) approaches applied to the genomic context play a key role in the advancement of personalized and precision medicine.

References

  1. 23andMe (2016a). 23andMe. https://www.23andme.com/. [Online; accessed 19-December-2016].
  2. 23andMe (2016b). How https://www.23andme.com/howitworks/. accessed 19-December-2016].
  3. BOE, A. e. B. O. d. E. (1999). Disposiciones Generales.
  4. BOE, A. e. B. O. d. E. (2011). Ley 14/2007 de Investigación Biomédica.
  5. BOE, A. e. B. O. d. E. (2015). Ley 14/1986 General de Sanidad.
  6. Chinosi, M. and Trombetta, A. (2012). BPMN: An introduction to the standard. Computer Standards and Interfaces, 34(1):124-134.
  7. de Galicia, C. A. (2001). Ley 3/2001, reguladora del consentimiento informado y de la historia clínica de los pacientes.
  8. Fisiotraining C órdoba (2016). Test Genéticos. http://www.fisiotraining.com/cordoba/ analisisgeneticos quees.htm. [Online; accessed 19-December-2016].
  9. Franco, M. L., Cediel, J. F., and Payán, C. (2008). Breve historia de la bioinformática. Colombia Médica, 39:117-120.
  10. Google (2017). Personalizar Chrome.
  11. Grupo RETO Hermosillo, A. (2016). El cáncer de mama. http://gruporetohermosilloac.com/index.php. [Online; accessed 19-December-2016].
  12. Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., and McKusick, V. A. (2005). Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research, 33(DATABASE ISS.):D514-D517.
  13. Instituto Nacional del Cáncer (2015). Qué es la medicina de precisión en el tratamiento del cáncer. https://www.cancer.gov/espanol/cancer/tratamiento/ tipos/medicina-de-precision. [Online; accessed 19- December-2016].
  14. Jackson, E. M. (2012). The PayPal Wars: Battles with eBay, the Media, the Mafia, and the Rest of Planet Earth. WND Books, 2nd edition.
  15. Jiménez, N. (2014). Una medicina nueva , más inteligente y menos invasiva. http://www.lifescienceslab.com.
  16. León, A., Reyes, J., Burriel, V., and Valverde, F. (2016). Data quality problems when integrating genomic information. In International Conference on Conceptual Modeling, pages 173-182. Springer.
  17. Mardis, E. R. (2010). The $1,000 genome, the $100,000 analysis? Genome Medicine, 2(11):84.
  18. Metzker, M. L. (2010). Sequencing technologies - the next generation. Nature reviews. Genetics, 11(1):31-46.
  19. Microsoft (2017). Internet Explorer - Microsoft Download Center.
  20. Mozilla (2017). Firefox.
  21. NCBI Resource Coordinators (2013). Database resources of the National Center for Biotechnology Information. Nucleic Acids Research, 41(D1):D8-D20.
  22. Object Management Group (1997). Model and Notation.
  23. Olivé, A. (2007). Conceptual Modeling of Information Systems. Springer Berlin Heidelberg, Berlin, Heidelberg, 1 edition.
  24. Oracle Corporation (2017). MySQL :: MySQL 5.7 Reference Manual.
  25. Pastor, O., Espan˜a, S., Panach, J. I., and Aquino, N. (2008). Model-driven development. InformatikSpektrum, 31(5):394-407.
  26. Reyes R, J. F., Pastor, O., Valverde, F., and Roldán, D. (2016). Including haplotypes treatment in a Genomic Information Systems Management. In Proceedings of the XIX Ibero-American Conference on Software Engineering (CIbSE 2016), pages 27-29, Quito, Ecuador.
  27. Reyes Román, J. F. (2014). Integración de haplotipos al modelo conceptual del genoma humano utilizando la metodología sile. http://hdl.handle.net/10251/43776.
  28. Reyes Román, J. F., Pastor, O., Casamayor, J. C., and Valverde, F. (2016). Applying conceptual modeling to better understand the human genome. In ComynWattiau, I., Tanaka, K., Song, I.-Y., Yamamoto, S., and Saeki, M., editors, Conceptual Modeling: 35th International Conference, ER 2016, Gifu, Japan, November 14-17, 2016, Proceedings, pages 404-412. Springer International Publishing, Cham.
  29. Reyes Román, J. F., Pastor Lopez, O., Valverde, F., and Roldán, D. (2016). How to deal with Haplotype data : An Extension to the Conceptual Schema of the Human Genome. CLEI ELECTRONIC JOURNAL, 19(2).
  30. Reyes Román, J. F. and Pastor López, O. P. (2016). Use of GeIS for Early Diagnosis of Alcohol Sensitivity. In Proceedings of the 9th International Joint Conference on Biomedical Engineering Systems and Technologies, pages 284-289.
  31. Romeo-Malanda, S. (2009). Análisis genéticos directos al consumidor: cuestiones éticas y jurídicas. http://www.institutoroche.es/legalactualidad/85/ analisis. [Online; accessed 19-December-2016].
  32. The Apache Software Foundation (2017). Welcome! - The Apache HTTP Server Project.
  33. U. S. National Library of Medicine (2017). What is genetic testing? - Genetics Home Reference.
  34. UNESCO (2004). Declaraci ón Internacional sobre los Datos Genéticos Humanos. http://unesdoc.unesco.org/images/0013/001361/ 136112so.pdf. [Online; accessed 19-December2016].
  35. Voelkerding, K. V., Dames, S. A., and Durtschi, J. D. (2009). Next-generation sequencing:from basic research to diagnostics. Clinical Chemistry, 55(4):641- 658.
  36. W3schools (2017). PHP 5 Tutorial.
Download


Paper Citation


in Harvard Style

Reyes Román J., Iñiguez-Jarrín C. and Pastor López Ó. (2017). GenesLove.Me: A Model-based Web-application for Direct-to-consumer Genetic Tests . In Proceedings of the 12th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE, ISBN 978-989-758-250-9, pages 133-143. DOI: 10.5220/0006340201330143


in Bibtex Style

@conference{enase17,
author={José Fabián Reyes Román and Carlos Iñiguez-Jarrín and Óscar Pastor López},
title={GenesLove.Me: A Model-based Web-application for Direct-to-consumer Genetic Tests},
booktitle={Proceedings of the 12th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE,},
year={2017},
pages={133-143},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0006340201330143},
isbn={978-989-758-250-9},
}


in EndNote Style

TY - CONF
JO - Proceedings of the 12th International Conference on Evaluation of Novel Approaches to Software Engineering - Volume 1: ENASE,
TI - GenesLove.Me: A Model-based Web-application for Direct-to-consumer Genetic Tests
SN - 978-989-758-250-9
AU - Reyes Román J.
AU - Iñiguez-Jarrín C.
AU - Pastor López Ó.
PY - 2017
SP - 133
EP - 143
DO - 10.5220/0006340201330143