Dataset Information

PO2RDF: representation of real-world data for precision oncology using resource description framework.

ABSTRACT:

Background

Next-generation sequencing provides comprehensive information about individuals' genetic makeup and is commonplace in precision oncology practice. Due to the heterogeneity of individual patient's disease conditions and treatment journeys, not all targeted therapies were initiated despite actionable mutations. To better understand and support the clinical decision-making process in precision oncology, there is a need to examine real-world associations between patients' genetic information and treatment choices.

Methods

To fill the gap of insufficient use of real-world data (RWD) in electronic health records (EHRs), we generated a single Resource Description Framework (RDF) resource, called PO2RDF (precision oncology to RDF), by integrating information regarding genes, variants, diseases, and drugs from genetic reports and EHRs.

Results

There are a total 2,309,014 triples contained in the PO2RDF. Among them, 32,815 triples are related to Gene, 34,695 triples are related to Variant, 8,787 triples are related to Disease, 26,154 triples are related to Drug. We performed two use case analyses to demonstrate the usability of the PO2RDF: (1) we examined real-world associations between EGFR mutations and targeted therapies to confirm existing knowledge and detect off-label use. (2) We examined differences in prognosis for lung cancer patients with/without TP53 mutations.

Conclusions

In conclusion, our work proposed to use RDF to organize and distribute clinical RWD that is otherwise inaccessible externally. Our work serves as a pilot study that will lead to new clinical applications and could ultimately stimulate progress in the field of precision oncology.

SUBMITTER: Zhao Y

PROVIDER: S-EPMC9338627 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

PO2RDF: representation of real-world data for precision oncology using resource description framework.

Zhao Yiqing Y Dimou Anastasios A Shen Feichen F Zong Nansu N Davila Jaime I JI Liu Hongfang H Wang Chen C

BMC medical genomics 20220730 1

<h4>Background</h4>Next-generation sequencing provides comprehensive information about individuals' genetic makeup and is commonplace in precision oncology practice. Due to the heterogeneity of individual patient's disease conditions and treatment journeys, not all targeted therapies were initiated despite actionable mutations. To better understand and support the clinical decision-making process in precision oncology, there is a need to examine real-world associations between patients' genetic ...[more]

PMID: 35907849

Similar Datasets

Project description:BackgroundThe importance of real-world evidence is widely recognized in observational oncology studies. However, the lack of interoperable data quality standards in the fragmented health information technology landscape represents an important challenge. Therefore, adopting validated systematic methods for evaluating data quality is important for oncology outcomes research leveraging real-world data (RWD).ObjectiveThis study aims to implement real-world time to treatment discontinuation (rwTTD) for a systemic anticancer therapy (SACT) as a new use case for the Use Case Specific Relevance and Quality Assessment, a framework linking data quality and relevance in fit-for-purpose RWD assessment.MethodsTo define the rwTTD use case, we mapped the operational definition of rwTTD to RWD elements commonly available from oncology electronic health record-derived data sets. We identified 20 tasks to check the completeness and plausibility of data elements concerning SACT use, line of therapy (LOT), death date, and length of follow-up. Using descriptive statistics, we illustrated how to implement the Use Case Specific Relevance and Quality Assessment on 2 oncology databases (Data sets A and B) to estimate the rwTTD of an SACT drug (target SACT) for patients with advanced head and neck cancer diagnosed on or after January 1, 2015.ResultsA total of 1200 (24.96%) of 4808 patients in Data set A and 237 (5.92%) of 4003 patients in Data set B received the target SACT, suggesting better relevance of the former in estimating the rwTTD of the target SACT. The 2 data sets differed with regard to the terminology used for SACT drugs, LOT format, and target SACT LOT distribution over time. Data set B appeared to have less complete SACT records, longer lags in incorporating the latest data, and incomplete mortality data, suggesting a lack of fitness for estimating rwTTD.ConclusionsThe fit-for-purpose data quality assessment demonstrated substantial variability in the quality of the 2 real-world data sets. The data quality specifications applied for rwTTD estimation can be expanded to support a broad spectrum of oncology use cases.

Dataset Information

PO2RDF: representation of real-world data for precision oncology using resource description framework.

Background

Methods

Results

Conclusions

Publications

PO2RDF: representation of real-world data for precision oncology using resource description framework.

Similar Datasets

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