Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

Wendy K. Chung, Kyle Brothers, Angela Bradbury, Sirisak Chanprasert, Lori Orlando, Ali Torkamani, Heather Zierhut, Marylyn D. Ritchie, Michael Phillips, Jennifer Schoden, Deborah Maiese, Tabitha Hendershot, Carol M. Hamilton, Erin M. Ramos

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Purpose: The 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. Methods: A 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. Results: The 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. Conclusion: Use of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.

Original languageEnglish (US)
Pages (from-to)1783-1788
Number of pages6
JournalGenetics in Medicine
Volume23
Issue number9
Early online dateMay 10 2021
DOIs
StatePublished - Sep 2021

Bibliographical note

Funding Information:
Research reported in this publication was supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) under award number 3U41HG007050-06S2. This award was funded by NHGRI. This information or content and conclusions are those of the authors and should not be construed as the official position or policy of, nor should any endorsements be inferred by the National Institutes of Health, the US Department of Health and Human Services, or the US Government.

Funding Information:
The objective of PhenX (consensus measures for phenotypes and exposures) is to identify and promote the use of standard measurement protocols that improve the consistency of data collection and allow for cross-study analyses and increased statistical power. PhenX, which began in 2007, is funded by the National Human Genome Research Institute (NHGRI), with additional funding from other National Institutes of Health (NIH) institutes and centers. 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. PhenX measurement protocols are available as Research Electronic Data Capture (REDCap) data dictionaries that can be uploaded directly to REDCap for electronic data collection. 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.

Publisher Copyright:
© 2021, The Author(s).

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural

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