Molecular Laboratory "Molecular analysis of pharmacogenetic biomarkers"

Summary table of the technological challenge 2

Subproject/Technological ChallengeInnovation SectorProducts and tasks
2. Molecular analysis (genetic biomarkers)Molecular analysis companies: pharmacogenetic biomarkers (RT-PCR, sequencing)2a). Development of laboratory methodology for its application in the clinical care routine.
2b). Drug Regulatory Recommendations Database: genetic biomarkers (1d)
2c). Functional interpretation software of genetic analysis (4b)
2d). Systematic report based, only, on genetic biomarkers.
2e). Analysis in pilot of, at least, 3000 patients for its evaluation.
2f). Connection with the PPS in the JARA environment (1d)

For more information: *JARA Electronic Clinical History, Extremadura Health Service (SES)

Current situation:

To date, the implementation of personalized or precision medicine has been based mainly on genetic analysis, however, one of the main barriers in its implementation in health services is the lack of standardized analytical methods, functional evaluation and protocols for the clinical implementation of the results.


To develop a systematic analysis of pharmacogenetic biomarkers for its implementation in the clinical routine, validated to include all relevant variants for the population of Extremadura, Spain and as far as possible European. The possibility to extend to Latin American population will be valued. Application of the developed methodology to at least 3,000 patients.

Functionality required by the solutions proposed:

Ability to perform (as automatically as possible) analysis of the genetic polymorphisms involved in the response to drugs.
Ability to query a database created for the project with all relevant genetic polymorphisms at least from the point of view of regulation and Clinical Practice Guidelines.
Ability to connect to the interpretation database, and to the system that generates the algorithm for the elaboration of the report, for the decision-making process.
Ability to interpret its functional meaning and generate a report (relationship between the generated result and the database).
Ability to connect to the automated reporting system that generates a report, first of the functional capacity, based only on the genetic information, and potentially extensible to other determinants of the Electronic Medical Record. The final result must be integrated into the PPS algorithm (Subproject 1)
Ability to integrate into the electronic medical record, specifically the JARA of the SES.
Connectable and integrable in Subproject 1 (Technological Demand: Customized Prescription System)

Summary of products and tasks (Table 1):

2a). Development of laboratory methodology for its application in the healthcare routine.
2b). Database of regulatory recommendations: genetic biomarkers (Connected to Subproject 1)
2c). Functional interpretation software for genetic analysis.
2d). Systematic report based only on genetic biomarkers, understandable to the rest.
2e). Analysis of at least 3,000 patients in pilot for its evaluation.
2f). Connection with the PPS in JARA environment (Connected to Subproject 1).

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