Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents
| Autor: | Helen Dimaras, Amal Gedleh, Kaitlyn Hougham, Jessica A. Hill, Siwon Lee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Parents Health Knowledge Attitudes Practice Adolescent Patients Retinal Neoplasms MEDLINE Genetic Counseling Disease Article 03 medical and health sciences 0302 clinical medicine Germline mutation Health care Genetics Medicine Humans Genetic Predisposition to Disease Genetics (clinical) Genetic testing medicine.diagnostic_test business.industry Retinoblastoma Cancer Middle Aged medicine.disease Focus group eye diseases 030220 oncology & carcinogenesis 030221 ophthalmology & optometry Female business |
| Popis: | Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying genetic information is essential for patients to make informed decisions. This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring. We conducted focus groups with adult survivors of retinoblastoma and parents of children with retinoblastoma, to uncover their knowledge of, experiences with and attitudes about retinoblastoma genetics and related impacts of the cancer. Results revealed that participants understood that retinoblastoma was a genetic disease, but often misunderstood the implications of genetics on cancer phenotype and risk. Experiences with genetic testing and counseling were generally positive, however, participants reported challenges in accessing genetic information and psychosocial support. Participants suggested more educational resources, peer-to-peer counseling, and psychosocial support would enhance uptake of important genetic information. The results of the study will inform patient-oriented approaches to deliver comprehensive genetic healthcare. |
| Databáze: | OpenAIRE |
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