domingo, 4 de febrero de 2018

Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. - PubMed - NCBI

Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. - PubMed - NCBI



 2018 Jan 29. doi: 10.1038/s41431-017-0027-9. [Epub ahead of print]

Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents.

Hill JA1,2Gedleh A1,3Lee S1,3Hougham KA1Dimaras H4,5,6,7,8.

Abstract

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 geneticdisease, 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 geneticinformation. The results of the study will inform patient-oriented approaches to deliver comprehensive genetic healthcare.

PMID:
 
29379195
 
DOI:
 
10.1038/s41431-017-0027-9

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