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

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 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.

Meaningful Patient Engagement in Research: Lessons From Retinoblastoma

“…People affected by retinoblastoma have indicated that they are deeply incentivized to keep abreast of research and help co-create it. 2 Parents want better outcomes for their children as they grow older and start families of their own, and survivors want research focused on preventing retinoblastoma, given that it can be predicted in familial cases. 2 As the retinoblastoma team at The Hospital for Sick Children, we noticed patients' interest in becoming more deeply involved in research but recognized that there was little opportunity for such involvement.…”

“…2 Parents want better outcomes for their children as they grow older and start families of their own, and survivors want research focused on preventing retinoblastoma, given that it can be predicted in familial cases. 2 As the retinoblastoma team at The Hospital for Sick Children, we noticed patients' interest in becoming more deeply involved in research but recognized that there was little opportunity for such involvement. Ms Baddeliyanage and Dr Shaikh wrote sections of the manuscript and reviewed the finalized manuscript; Dr Dimaras conceptualized the manuscript, wrote a section of the manuscript, and reviewed the manuscript; Ms White conceptualized the manuscript, synthesized the patient, medical, and research perspectives to write the initial manuscript, and revised the manuscript; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.…”

“…I instead learned of the lifelong implications ahead of me: I could pass on a disease-causing gene to my future children and I carry a higher risk of developing second cancers. 2 Through oncology appointments, genetic counseling, and my own research, I was able to gain a rudimentary understanding of retinoblastoma.…”

“…However, I still felt that I lacked access to new, ongoing, and relevant research in the field, something I now know to be a commonly felt experience among retinoblastoma patients. 2 In my search for new research, I was connected with the retinoblastoma research team at The Hospital for Sick Children. I initially presumed that, as a patient, I would not have a primary role in research.…”

Parent Knowledge of Screening and Genetic Testing in Retinoblastoma

“…A handful of studies on parental awareness have concentrated on the subset of familial retinoblastoma patients and consistently found that raised awareness improved early diagnosis and outcome [11,12]. More recently, a qualitative study from Canada explored knowledge of retinoblastoma genetics among retinoblastoma survivors and parents of children with retinoblastoma, and it revealed that knowledge of retinoblastoma genetics was variable and often limited [13]. To our knowledge, this was the first study analyzing parent knowledge on retinoblastoma of both heritable and nonheritable forms.…”