By Jessica Kent, HealthIT Analytics | August 28, 2019

As part of a four-year NIH study, Baylor College of Medicine has createdguidelines for future efforts in precision medicine that aim to deliver personalized care.

NIH’s Electronic Medical Records and Genomics (eMERGE III) program coordinated activities at 11 clinical participant enrollment sites, with two sequencing centers and a coordinating center to analyze the DNA of more than 25,000 participants.

At clinical trial sites, participants submitted a blood sample and their DNA was sequenced using a custom gene-capture panel. The interpreted data was then returned to participants through their physician caregivers.

The study results showed that about 200 of the 25,000 eMERGE III participants required return of genetic results for the reasons given when they first enrolled for testing. Additionally, there were nearly 1,300 instances where other genetic findings unrelated to existing health conditions were also deemed reportable. Researchers found that these trends were consistent across the network.

“Together with our colleagues in the eMERGE III Network we have built a roadmap for coordination of future efforts in precision medicine,” said Dr. Richard Gibbs, study author and director of the Human Genome Sequencing Center and professor of molecular and human genetics at Baylor College of Medicine.

“All of the steps, from consenting individual participants, extracting DNA, sequencing, interpreting and returning clinical data, were coordinated and finessed.”

A critical part of this study was balancing the demand for research access to genetic data with the strict requirements for privacy. The research team came up with new processes for protecting sensitive, personal data, facilitated large-scale data analysis, and enabled access to de-identified results.

These methods are now foundational for new projects advancing precision medicine research and everyday clinical care.

“This work was made possible by developing an automated clinical reporting system, which enabled high-throughput genomic variant interpretation and report generation for the 14,500 participants served by the Baylor HGSC,” said Dr. Eric Venner, study author and assistant professor at the Human Genome Sequencing Center at Baylor.

As genomics and genetic testing become more widely disseminated in healthcare, there will be a growing need for standard precision medicine practices and strategies, researchers stated.

“With the rate of actionable findings found here, this strongly supports the need for wider application of precision medicine efforts like eMERGE,” said Dr. David Murdoch, assistant professor of molecular and human genetics and assistant director of the Human Genome Sequencing Center clinical lab at Baylor.

With the new methods developed in this study, researchers across the care continuum can begin gathering the data they’ll need to advance precision medicine care.

“This collaborative study represents a significant step forward in global standardization of the analytical and reporting aspects of genetic testing,” said Donna Muzny, study author and assistant professor at the Human Genome Sequencing Center at Baylor.

The Baylor College of Medicine Human Genome Sequencing Center was one of two Centralized Sequencing and Genotyping (CSG) Facilities, conducting the data analysis, generation, and clinical data reporting for more than 14,500 of the 25,000 participants in the program.

Original Article