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Genetic Testing and Counseling Practices for Patients with Retinoblastoma at Cincinnati Children’s Hospital Medical Center
- Publication Year :
- 2015
-
Abstract
- 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
- Subjects :
- Genetics
retinoblastoma
genetic testing
RB1
genetic counseling
Subjects
Details
- Language :
- English
- Database :
- OpenDissertations
- Publication Type :
- Dissertation/ Thesis
- Accession number :
- ddu.oai.etd.ohiolink.edu.ucin1427813631