New Study Highlights Practical Data Needs to Successfully Apply Pharmacogenomics and Precision Medicine

In a recent issue of the Journal of Medical Genetics, NCI Data and Technology Advancement (DATA) Scholar Dr. Jay G. Ronquillo published a study using NIH “All of Usdata and NCI’s Cancer Research Data Commons (CRDC) to better understand pharmacogenomic prescribing and testing patterns across the United States.

As an important practice in the clinical application of precision medicine, pharmacogenomics offers researchers insight into how a person’s genome influences his or her response to medications. Tailoring treatment approaches to someone’s unique genetic make-up can help physicians choose more effective treatment regimens for cancer patients. Up to this point, there has not been a study characterizing real-world practice of pharmacogenomic prescribing and testing for patients in a large national cohort.

Dr. Ronquillo’s study sought to bridge this gap by analyzing a cohort of 22,223 cancer patients within the NIH “All of Us” data set. Leveraging the CRDC’s Cloud Resources and cloud-based Jupyter notebooks, Dr. Ronquillo created cancer-related definitions and mappings to be used in the “All of Us” Researcher Workbench.

The study found that while drugs with pharmacogenomic evidence were common, corresponding genetic tests were rarely performed, despite half of the top 20 drugs having biomarkers that should have guided treatment and dosage.

The study also highlighted other missing elements that will present challenges to making precision medicine standard of care, including robust genomic education, communications, policies, and digital health that are needed for precision oncology.

“Applying informatics and data science to large cancer data ecosystems can help us better understand the current state of precision medicine and transform it into a truly effective option for all patients in the future,” explained Dr. Ronquillo.

The full article is publicly available through the online Journal of Medical Genetics.

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