R01HG011800

Preemptive Pharmacogenetic Testing in Medically Underserved Populations - Project Summary

Preemptive pharmacogenetic (PGx) testing may be particularly beneficial in medically underserved populations by reducing the number of appointments required to optimize drug therapy and increasing the effectiveness of less expensive off-patent medications – the type most often with pharmacogenetic guidelines available (PGx drugs). However, there is little data available to guide clinical implementation in these patient populations.

Our long-term goal is to contribute toward the efficient implementation of PGx into clinical practice to improve the precision of medication prescribing. The overall objective for this application is to identify PGx drug usage patterns in medically underserved patients and assess the feasibility and effectiveness of preemptive PGx testing in this patient population.

The central hypothesis is that medically underserved patients are prescribed more PGx drugs, and preemptive PGx testing is feasible as well as effective in improving patient medication satisfaction. The rationale for the proposed research is that identifying patient populations that can most benefit from PGx testing will facilitate clinical implementation that may reduce medication treatment disparities.

We plan to test the central hypothesis and accomplish the overall objective of this application by pursuing three specific aims.

The first aim is to identify clinical, demographic, and socioeconomic factors associated with PGx drug prescribing patterns in a large, real-world, diverse patient population. We will accomplish this aim by comparing clinical, demographic, and socioeconomic data with prescription data from millions of patients across the state of Florida.

The second aim is to develop a low-cost, ancestrally inclusive PGx testing panel designed to inform commonly used PGx drugs. We will design a low-cost, clinically validated panel that will include variants common in racial minorities in the U.S. We plan to leverage extensive batching of tests and an already available genotyping platform that minimizes labor costs to achieve significant cost savings.

The third aim is to determine the feasibility of low-cost preemptive PGx testing in a medically underserved population as well as its effect on patient medication satisfaction. We will accomplish this aim by completing a randomized open-label clinical trial comparing medically underserved patients receiving preemptive PGx testing to those receiving usual care. We will compare key implementation metrics and will also conduct semi-structured interviews in both patients and healthcare providers to assess PGx perceptions of feasibility and sustainability from stakeholders.

The proposed research is significant because it should contribute valuable preliminary data toward both the real-world effectiveness of preemptive PGx testing as well as the feasibility of studying and implementing this technology in medically underserved patients – an area of PGx research where few data are available.

The proposed research is innovative because this project will utilize additional demographic and socioeconomic data that, along with clinical data, should better identify patient populations most likely to benefit from PGx testing and allow focused implementation efforts to those populations.

Ultimately, we expect to have developed valuable data identifying patients most likely to benefit from preemptive PGx testing, particularly in patients who are medically underserved and/or members of racial minorities. These results should have an important positive impact because they can inform further clinical implementation efforts of PGx as well as future large clinical trials of preemptive testing, ideally reducing healthcare disparities in the field of precision medicine.

University Of Florida

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Florida United States

State-Wide

Advancing Genomic Medicine Research (Clinical Trial Optional) (R01) (RFA-HG-20-036)

Amendment Since initial award the End Date has been extended from 06/30/26 to 01/31/27 and the total obligations have increased 331% from $749,991 to $3,236,197.