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Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center

Freeze, Samantha
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631

Abstract Details

2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Retinoblastoma is the most common ocular cancer in childhood with an incidence of 1/15,000-20,000. Retinoblastoma tumors are associated with mutations in both copies of the Retinoblastoma 1 (RB1) tumor suppressor gene. Genetic testing and counseling for RB1 mutations is important for diagnosis of hereditary retinoblastoma and risk assessment in relatives. At this time, it is unclear if all patients with retinoblastoma receive genetic testing and genetic counseling and if genetic counseling received is optimal. Methods: Seventy-four patients who were diagnosed with retinoblastoma and were seen at Cincinnati Children’s Hospital Medical Center from January 1, 2000-August 1, 2014 were selected for participation in this study. Retrospective chart review was used to identify the documentation of genetic testing and counseling provided. Criteria for optimal genetic counseling included documentation of 5 of the 6 essential elements of genetic counseling cancer risk assessment. Results: Documentation of genetic testing was identified in the charts of 49/74 patients (63.1%). 36/74 patients (48.6%) were seen by either a genetic counselor or medical geneticist. Involvement of a genetics professional was found to increase the likelihood of receiving genetic testing (p<.001). Documentation of optimal genetic counseling was identified in 10/30 charts (33.3%) of patients seen by genetics professional who documented the elements of the genetic counseling session. Genetic testing uptake and documentation of optimal genetic counseling has improved over time. Conclusions: Not all patients with retinoblastoma are receiving genetic testing and counseling as part of comprehensive cancer care. Inclusion of a genetics professional in the care for patients with retinoblastoma increases the likelihood of receiving genetic testing. Documentation in patient charts of the elements of genetic counseling cancer risk assessment is suboptimal and may or may not reflect actual services provided.
Melanie Myers, Ph.D. (Committee Chair)
Carrie Atzinger, M.S. C.G.C. (Committee Member)
Robert Barett Essman Hufnagel, M.D.Ph.D (Committee Member)
Nancy Doan Leslie, M.D. (Committee Member)
James Geller, M.D. (Committee Member)
Xue Zhang, Ph.D. (Committee Member)
43 p.
Genetics
retinoblastoma; genetic testing; RB1; genetic counseling

Recommended Citations

Citations

  • Freeze, S. (2015). Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631

    APA Style (7th edition)

  • Freeze, Samantha. Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631.

    MLA Style (8th edition)

  • Freeze, Samantha. "Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813631

    Chicago Manual of Style (17th edition)

ucin1427813631
868
© 2015, some rights reserved.Creative Commons License Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center by Samantha Freeze is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. Based on a work at etd.ohiolink.edu.
This open access ETD is published by University of Cincinnati and OhioLINK.