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      Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

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          Abstract

          The scalable delivery of genomic medicine requires collaboration between genetics and non-genetics providers. Thus, it is essential to investigate and address the perceived value of and barriers to incorporating genetic testing into the clinical practice of primary care providers (PCPs). We used a mixed-methods approach of qualitative interviews and surveys to explore the experience of PCPs involved in the pilot DNA-10K population genetic testing program. Similar to previous research, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs endorsed high levels of utility for patients and their families but noted logistical challenges to incorporating genetic testing into their practice. Overall PCPs were not familiar with the United States’ Genetic Information Nondiscrimination Act and they expressed high levels of concern for patient data privacy and potential insurance discrimination. This PCP feedback led to the development and implementation of several processes to improve the PCP experience with the DNA-10K program. These results contribute to the knowledge base regarding genomic implementation using a mixed provider model and may be beneficial for institutions developing similar clinical programs.

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          Most cited references35

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          Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support.

          Research electronic data capture (REDCap) is a novel workflow methodology and software solution designed for rapid development and deployment of electronic data capture tools to support clinical and translational research. We present: (1) a brief description of the REDCap metadata-driven software toolset; (2) detail concerning the capture and use of study-related metadata from scientific research teams; (3) measures of impact for REDCap; (4) details concerning a consortium network of domestic and international institutions collaborating on the project; and (5) strengths and limitations of the REDCap system. REDCap is currently supporting 286 translational research projects in a growing collaborative network including 27 active partner institutions.
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            Three approaches to qualitative content analysis.

            Content analysis is a widely used qualitative research technique. Rather than being a single method, current applications of content analysis show three distinct approaches: conventional, directed, or summative. All three approaches are used to interpret meaning from the content of text data and, hence, adhere to the naturalistic paradigm. The major differences among the approaches are coding schemes, origins of codes, and threats to trustworthiness. In conventional content analysis, coding categories are derived directly from the text data. With a directed approach, analysis starts with a theory or relevant research findings as guidance for initial codes. A summative content analysis involves counting and comparisons, usually of keywords or content, followed by the interpretation of the underlying context. The authors delineate analytic procedures specific to each approach and techniques addressing trustworthiness with hypothetical examples drawn from the area of end-of-life care.
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              The REDCap consortium: Building an international community of software platform partners

              The Research Electronic Data Capture (REDCap) data management platform was developed in 2004 to address an institutional need at Vanderbilt University, then shared with a limited number of adopting sites beginning in 2006. Given bi-directional benefit in early sharing experiments, we created a broader consortium sharing and support model for any academic, non-profit, or government partner wishing to adopt the software. Our sharing framework and consortium-based support model have evolved over time along with the size of the consortium (currently more than 3200 REDCap partners across 128 countries). While the "REDCap Consortium" model represents only one example of how to build and disseminate a software platform, lessons learned from our approach may assist other research institutions seeking to build and disseminate innovative technologies.
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                Author and article information

                Journal
                J Pers Med
                J Pers Med
                jpm
                Journal of Personalized Medicine
                MDPI
                2075-4426
                13 October 2020
                December 2020
                : 10
                : 4
                : 165
                Affiliations
                [1 ]Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, IL 60201, USA; mdunnenberger@ 123456northshore.org (H.M.D.); jthompson2@ 123456northshore.org (J.T.); cjohnson5@ 123456medicine.bsd.uchicago.edu (C.J.); phulick@ 123456northshore.org (P.J.H.)
                [2 ]Division of Medical Genetics, University of Washington, Seattle, WA 98115, USA; lauraa7@ 123456uw.edu
                [3 ]Center for Biomedical Research Informatics, NorthShore University HealthSystem, Evanston, IL 60201, USA; kkuchta@ 123456northshore.org
                [4 ]Department of Medicine, University of Chicago, Chicago, IL 60637, USA
                [5 ]Department of Family Medicine, NorthShore University HealthSystem, Evanston, IL 60201, USA; nilbawi@ 123456northshore.org (N.I.); loshman@ 123456northshore.org (L.O.)
                Author notes
                [* ]Correspondence: alemke@ 123456northshore.org ; Tel.: +1-608-712-8781
                Author information
                https://orcid.org/0000-0003-1865-120X
                https://orcid.org/0000-0003-2484-6302
                https://orcid.org/0000-0001-8397-4078
                Article
                jpm-10-00165
                10.3390/jpm10040165
                7720124
                33066060
                d7076e6d-a6cb-461d-aabe-d680e259d0b9
                © 2020 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 02 September 2020
                : 06 October 2020
                Categories
                Article

                genomic screening,precision medicine,primary care,clinical implementation,genomics education

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