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

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.

[1]  Oscar Pastor,et al.  Applying Conceptual Modeling to Better Understand the Human Genome , 2016, ER.

[2]  María Liliana Franco,et al.  Breve historia de la bioinformática , 2008 .

[3]  Evan Bolton,et al.  Database resources of the National Center for Biotechnology Information , 2017, Nucleic Acids Res..

[4]  E. Mardis.  The $1,000 genome, the $100,000 analysis? , 2010, Genome Medicine.

[5]  José Fabián,et al.  Integración de haplotipos al modelo conceptual del genoma humano utilizando la metodología sile , 2014 .

[6]  Alan F. Scott,et al.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..

[7]  Oscar Pastor,et al.  Model-Driven Development , 2008, Informatik-Spektrum.

[8]  Oscar Pastor,et al.  How to deal with Haplotype data: An Extension to the Conceptual Schema of the Human Genome , 2016, CLEI Electron. J..

[9]  Elaine R. Mardis,et al.  The $ 1 , 000 genome , the $ 100 , 000 analysis ? , 2019 .

[10]  Oscar Pastor,et al.  Including haplotypes treatment in a Genomic Information Systems Management , 2016, CIbSE.

[11]  Ana León,et al.  Data Quality Problems When Integrating Genomic Information , 2016, ER Workshops.

[12]  Wolfgang Eiermann,et al.  El cáncer de mama , 1999 .

[13]  M. Metzker.  Sequencing technologies — the next generation , 2010, Nature Reviews Genetics.

[14]  Alexander Borgida,et al.  Conceptual Modeling of Information Systems , 1985, On Knowledge Base Management Systems.

[15]  Alberto Trombetta,et al.  BPMN: An introduction to the standard , 2012, Comput. Stand. Interfaces.

[16]  Oscar Pastor,et al.  Use of GeIS for Early Diagnosis of Alcohol Sensitivity , 2016, BIOINFORMATICS.

[17]  Eric M. Jackson.  The PayPal Wars: Battles with eBay, the Media, the Mafia, and the Rest of Planet Earth , 2004 .

[18]  Alessandro Vullo,et al.  Ensembl 2015 , 2014, Nucleic Acids Res..

[19]  K. Voelkerding,et al.  Next-generation sequencing: from basic research to diagnostics. , 2009, Clinical chemistry.