The Promises and Pitfalls of Omics in Precision Medicine

The past decade has seen an incredible rise in omics techniques (like genomics, proteomics, metabolomics, and transcriptomics). These techniques allow rapid accumulation of large amounts of data specific to an individual cell, tissue, or patient. A recent article in the Journal of Clinical and Translational Science explored how to apply these technologies to precision medicine and revolutionize patient diagnosis and therapeutic interventions.

The article provides recommendations, from a group of authors led by Scott Steele, Ph.D., director of Regulatory Science Programs at the University of Rochester Clinical and Translational Science Institute (UR CTSI), and Joan Adamo, Ph.D., director of Regulatory Support Services at UR CTSI, to address key gaps in omics-related regulatory science to advance the utility and approval of these approaches. The group of authors from the Food and Drug Administration (FDA), National Institute of Standards and Technology, industry and academia also advocated approaches to enhance the FDA approval process for new diagnostic tests that probe for more than one diagnostic marker or rely on genomic data that has huge variation in human populations.  

Adapting omics approaches to collect actionable data for precision medicine is challenging because there are often multiple components that need to meet FDA requirements for safety and utility. In a test that involves genomic sequencing, the machine, software, reagents and reference data (control data used to identify genetic mutations) must all pass FDA regulatory standards.

For rare diseases or diseases with large variability within the population, reference data is especially important. Without validated reference data, a test could harm patients by failing to identify dangerous mutations or identifying mutations that aren’t actually present. To address this, the authors recommend groups work together to combine well-validated data to serve as publicly available reference genomes.

It is also important to ensure that target genes or proteins are as important as a diagnostic test would claim. That is, if a physician was to order a screen looking for a gene or series of genes, it is important to know whether the gene could alter disease or treatment outcome. Similarly, it is critical that physicians understand the diagnostic capacity of the test, and how the outcome of the test will affect patients’ prognosis or treatment.

Ultimately, the authors believe that the advances in omics research will translate to improvements in precision medicine and patient outcomes. Cooperation among those from government, industry, academia, and non-profit sectors will be critical to efficiently address the scientific and regulatory considerations for these promising technologies.

Read the article.

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This article if part of a broader effort initiated by the UR CTSI and the Regulatory Science to Advance Precision Medicine Working Group of the Clinical and Translational Science Awards (CTSA) Program, which was established by Adamo and Steele. The working group, part of the CTSA Program’s Methods and Processes Domain Task Force, held a forum in 2017 in collaboration with PhRMA Foundation where members of the National Institutes of Health, FDA, CTSA Program, foundations and industry discussed key opportunities for regulatory science to advance precision medicine.

Written by Heather Natola.

Michael Hazard | 2/20/2019

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