Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1111–1129 | Cite as

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

  • Tara Schmidlen
  • Amy C. Sturm
  • Shelly Hovick
  • Laura Scheinfeldt
  • J. Scott Roberts
  • Lindsey Morr
  • Joseph McElroy
  • Amanda E. Toland
  • Michael Christman
  • Julianne M. O’Daniel
  • Erynn S. Gordon
  • Barbara A. Bernhardt
  • Kelly E. Ormond
  • Kevin SweetEmail author
Original Research


With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.


Genomic counseling Service delivery Genomics Precision medicine Genetic counseling Modality Genomic testing 



We thank Stephanie J. Schulte for her kind assistance with the extensive literature review and summary. We are grateful to the anonymous reviewers for their detailed comments and thoughtful insight.


Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number R21HG006575. This work was also supported in part by the Ohio State University Comprehensive Cancer Center. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Coriell Personalized Medicine Collaborative was funded by the William G. Rohrer Foundation, the RNR Foundation, and a grant from the endowment of the Coriell Institute for Medical Research.

Compliance with Ethical Standards

Conflict of Interest

ESG is currently a paid employee of Genome Medical. She worked for the Coriell Institute for Medical Research at the time that this study was developed and the majority of the data collection period.

Tara Schmidlen, Amy C. Sturm, Shelly Hovick, Laura Scheinfeldt, J. Scott Roberts, Lindsey Morr, Joseph McElroy, Amanda E. Toland, Michael Christman, Julianne M. O’Daniel, Barbara A. Bernhardt, Kelly E. Ormond, and Kevin Sweet declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the local medical ethical boards of the Ohio State University Wexner Medical Center and the Coriell Institute for Medical Research and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

Supplementary material

10897_2018_230_MOESM1_ESM.pdf (226 kb)
Supplementary Fig. 1 (PDF 225 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  • Tara Schmidlen
    • 1
    • 2
  • Amy C. Sturm
    • 1
    • 3
  • Shelly Hovick
    • 4
  • Laura Scheinfeldt
    • 2
  • J. Scott Roberts
    • 5
  • Lindsey Morr
    • 4
  • Joseph McElroy
    • 6
  • Amanda E. Toland
    • 3
  • Michael Christman
    • 2
  • Julianne M. O’Daniel
    • 7
  • Erynn S. Gordon
    • 2
    • 8
  • Barbara A. Bernhardt
    • 9
  • Kelly E. Ormond
    • 10
  • Kevin Sweet
    • 3
    Email author
  1. 1.Genomic Medicine InstituteGeisinger Health SystemDanvilleUSA
  2. 2.Coriell Institute for Medical ResearchCamdenUSA
  3. 3.Division of Human GeneticsOhio State University Wexner Medical CenterColumbusUSA
  4. 4.School of CommunicationOhio State UniversityColumbusUSA
  5. 5.Department of Health Behavior & Health EducationUniversity of Michigan School of Public HealthAnn ArborUSA
  6. 6.Department of Biomedical InformaticsCenter for BiostatisticsColumbusUSA
  7. 7.Department of GeneticsUniversity of North Carolina at Chapel HillChapel HillUSA
  8. 8.Genome MedicalMontereyUSA
  9. 9.Division of Translational Medicine and Human Genetics, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  10. 10.Department of Genetics and Stanford Center for Biomedical EthicsStanford University School of MedicineStanfordUSA

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