The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research

Abstract

Conceptual frameworks are useful in research because they can highlight priority research domains, inform decisions about interventions, identify outcomes and factors to measure, and display how factors might relate to each other to generate and test hypotheses. Discovery, translational, and implementation research are all critical to the overall mission of genomic medicine and prevention, but they have yet to be organized into a unified conceptual framework. To fill this gap, our diverse team collaborated to develop the Genomic Medicine Integrative Research (GMIR) Framework, a simple but comprehensive tool to aid the genomics community in developing research questions, strategies, and measures and in integrating genomic medicine and prevention into clinical practice. Here we present the GMIR Framework and its development, along with examples of its use for research development, demonstrating how we applied it to select and harmonize measures for use across diverse genomic medicine implementation projects. Researchers can utilize the GMIR Framework for their own research, collaborative investigations, and clinical implementation efforts; clinicians can use it to establish and evaluate programs; and all stakeholders can use it to help allocate resources and make sure that the full complexity of etiology is included in research and program design, development, and evaluation.

The AutGO Initiative: A Conceptual Framework for Developing Genetics‐Outcomes Research Hypotheses

“…Its importance and value, particularly, for integrative research approaches, are gaining more attention. Recently, a conceptual framework for conducting Genomic Medicine Integrative Research (GMIR) has been developed by a multidisciplinary collaborative team through literature review, consensus‐building discussions, and multiple rounds of prioritization, to aid the genomics community in developing research questions, strategies, and measures to facilitate the implementation of genomic testing in diverse clinical settings and populations [Horowitz et al, 2019]. The GMIR framework highlights the need to build a unified conceptual framework that organizes all critical research aspects such as discovery, translational, and implementation, as a major necessary step toward improving the overall mission of genomic medicine and prevention.…”

Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

“…The DNA from 500 participants was sent to Baylor College of Medicine Human Genome Sequencing Center, a CLIA certified laboratory, for targeted sequencing using the eMERGEseq panel. 15 The sequencing laboratory generated individual clinical reports that were subsequently reviewed by a variant curation group at Mayo Clinic before disclosure to participants. Variants of uncertain clinical significance were not provided to investigators or participants.…”

“… 14 However, current implementation science frameworks for genomic medicine have only recently begun to acknowledge the importance of SDoH and appreciate how healthcare systems and settings that serve low-income patients will be critical for translating research findings into improved outcomes. 15 …”

Lessons learned about harmonizing survey measures for the CSER consortium

“…The CSER projects are also implemented in various clinical settings from neonatal intensive care units to adult outpatient clinics. The CSER consortium developed the genomic medicine integrative research framework, which highlights the complexity involved in integrating genomic medicine and prevention into clinical practice and the need for diverse areas of expertise to address research gaps [8] and demonstrates domains that investigators can measure. Each project includes transdisciplinary teams of geneticists, clinicians, ethicists, and genetic counselors, among others ( Table 2).…”