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Genetics Laboratory Directors’ Perspectives on the Role of Genetic Counselors in Acquired Mutation Testing: Current and Expanded Opportunities

Lewis, Courtney

Abstract Details

2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Advances in genetic testing have enabled the characterization of recurrent acquired mutations, which are now recognized as part of the classification criteria for certain hematopoietic malignancies. The genetic counselor’s (GCs) role in genetic testing for constitutional mutations has been well established; however, the opportunity for GCs to apply their skills to acquired mutation testing has not been previously studied. The purpose of this study was to describe the roles for laboratory GCs in acquired mutation testing as well as discuss training to help prepare GCs for these roles. Methods: An online survey to assess the current and expanded roles for GCs regarding genetic testing for acquired mutations related to oncogenesis was sent to 387 genetics laboratory directors. To be eligible for the study, participants had to identify as directors working in laboratories offering genetic testing services for acquired mutations. Results: Thirty-nine participants met eligibility criteria and completed the survey; of which, 20 (Group A) currently employed a GC and 19 (Group B) did not employ a GC. Time spent on acquired mutation testing accounted for 1-25% of the GCs total effort in the laboratory. Acting as a provider resource was the most common role currently performed by laboratory GCs related to acquired mutation testing and GC roles were reported to be similar to those related to constitutional mutation testing. The two groups significantly differed on their level of agreement regarding the role of GCs in acquired mutation testing, with Group A agreeing more strongly compared to Group B (p=0.05). A GC master’s training program and on the job training were cited as the best routes to prepare GCs for a role in acquired mutation testing. Conclusion:Laboratory GCs are currently performing roles related to acquired mutation testing. There is support for an expanded GC role in this area, particularly as perceived by directors who currently employ GCs. Additionally, this work supports GC training programs incorporating didactic coursework on laboratory-based genetic counseling that may include topics to prepare GCs for a role in testing for acquired mutations.
Kristen Sund, Ph.D. (Committee Chair)
Valentina Pilipenko, Ph.D. (Committee Member)
Teresa Smolarek, Ph.D. (Committee Member)
Sara Rankin Knapke, M.S. (Committee Member)
52 p.

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Citations

  • Lewis, C. (2014). Genetics Laboratory Directors’ Perspectives on the Role of Genetic Counselors in Acquired Mutation Testing: Current and Expanded Opportunities [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523134

    APA Style (7th edition)

  • Lewis, Courtney. Genetics Laboratory Directors’ Perspectives on the Role of Genetic Counselors in Acquired Mutation Testing: Current and Expanded Opportunities. 2014. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523134.

    MLA Style (8th edition)

  • Lewis, Courtney. "Genetics Laboratory Directors’ Perspectives on the Role of Genetic Counselors in Acquired Mutation Testing: Current and Expanded Opportunities." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523134

    Chicago Manual of Style (17th edition)