Abstract
PurposeThe PhenX Toolkit (www.phenxtoolkit.org), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope: genomic knowledge and education (both patients and providers); implementation science; changes in management and treatment; return of results; patient outcomes; and ethical, legal, and social issues (ELSI) associated with genomic research. MethodsA seven-member expert Working Group convened in October 2019 to identify well-established measurement protocols for a new genomic medicine implementation domain and used the established PhenX consensus process to select measurement protocols for inclusion in the PhenX Toolkit. ResultsThe Working Group recommended 15 measurement protocols for inclusion in the PhenX Toolkit, with priority given to those with empirical evidence supporting validity. Consortia funded by the National Institutes of Health, and particularly the National Human Genome Research Institute, proved critical in identifying protocols with established utility in this research domain, and identified protocols that were developed through a rigorous process for scope elements that lacked formally validated protocols. ConclusionUse of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.
Highlights
Genomic medicine includes genetic and genomic testing used to stratify risk of future disease and diagnose current symptoms to enable patient and providers to make more informed decisions about prevention and treatment
The genomic medicine research community can benefit from the use of common, validated instruments to allow for comparison and aggregation of data across studies
The genomic medicine implementation (GMI) domain in the PhenX Toolkit comprises 15 measurement protocols that may be used to elicit knowledge of genomics, evaluate communication strategies for disclosing genetic test results, and assess genomic medicine programs
Summary
Genomic medicine includes genetic and genomic testing used to stratify risk of future disease and diagnose current symptoms to enable patient and providers to make more informed decisions about prevention and treatment. The genomic medicine research community can benefit from the use of common, validated instruments to allow for comparison and aggregation of data across studies. The genomic medicine implementation (GMI) domain in the PhenX Toolkit (www.phenxtoolkit.org) comprises 15 measurement protocols that may be used to elicit knowledge of genomics, evaluate communication strategies for disclosing genetic test results, and assess genomic medicine programs. Measurement protocols are selected by Working Groups (WGs) of experts, vetted via consultation with the broader community, and made available to the public via the PhenX Toolkit (www.phenxtoolkit.org).[1,2] The PhenX Toolkit currently includes more than 860 measurement protocols in 28 research domains and six collections with additional depth for research in substance abuse and addiction, mental health, tobacco regulatory, blood sciences, social determinants of health, and COVID-19. The PhenX Toolkit currently has more than 3,500 registered users and has been recommended in more than 400 NIH funding opportunities and notices and cited in 337 publications
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