Authors:

Richelle Baddeliyanage, Student, and retinoblastoma survivor

Lynn Nahachewsky, Social worker and retinoblastoma survivor

Sepideh Selfi, Patient & customer engagement administrator

Helen Dimaras, Scientist

Introduction:

In trying to understand the complexities behind retinoblastoma as a rare genetic disease, there are many misunderstandings and gaps in knowledge among the patient community. In the study, “Knowledge, Experiences and Attitudes concerning Genetics among Retinoblastoma Survivors and Parents”, participants expressed a need for accessible and adequate information and support. Click below to watch a video summary of the paper. We offer our opinions on the paper, representing both the patient and healthcare community perspective.

Lynn: I really enjoyed how the paper was able to discuss each of the possible misunderstandings or misconceptions of the study group. I enjoyed that patients were quoted verbatim, even if there was slang used, as this accurately depicts how real people talk about and understand their cancer. Retinoblasotma is such a complex subject with so many variables and the interviews and research for this paper were very rich in all areas.

Richelle: As a survivor of bilateral retinoblastoma, my own patient experience aligns with most of the issues expressed in the article. While I had a basic understanding of retinoblastoma, I lacked access to new information and research on the long-term medical consequences of the disease. Important concepts are often miscommunicated and misconstrued, and there are several challenges involved in accessing the appropriate materials on retinoblastoma genetics. In addition, participants of the study found that there was a lack of psychosocial support. I also feel that there is a great need for retinoblastoma patients and family members to belong to a community of shared experiences that promotes open discussion and collective support.

Helen: I think for me the issue I took away is the inconsistencies in how people understood the basic biology and inheritance patterns of retinoblastoma. Some had excellent understanding, while many others remained confused, despite having received genetic counseling. One of the most common misconceptions was that unilateral retinoblastoma is not associated with a heritable RB1 mutation – and therefore allegedly does not confer risk of future cancer or future affected pregnancies. This is not true; about 15% of patients with unilateral retinoblastoma have a predisposing error in the RB1 gene, and are therefore at risk of second cancers and passing on the mutation to children (click here for more information on the genetics of retinoblastoma). There was confusion also between the words ‘inherited’ and ‘heritable’ – they are not the same thing, yet were often considered as such. It is important for people to understand that just because the error in the gene may not have been inherited from a parent, it does not necessarily mean that the error that developed in the child isn’t heritable by the next generation.

Sepideh: What I took away from the research is our need in the system for continuous patient support for patients. Specifically, if patients are walking away with questions and concerns after genetic counselling, how can similar service be implemented as a psychosocial/genetic information program through different channels? A problem has been unsurfaced through this research, requiring us to come up with new ways of meeting patient needs.

A way forward:

There is an opportunity to address these gaps in the system, through the Canadian Retinoblastoma Research Advisory Board and the Registry. Through these forums we can work with the patient community to co-create materials to support patient understanding of the complex genetic concepts in retinoblastoma. We will work together to produce tangible resources in various forms from informative pamphlets, books and posters, to workshops and videos and focus groups. Patient-oriented approaches to understanding retinoblastoma genetics will undoubtedly improve communication, and understanding of information and new research.  Patient engagement will also foster a network of peers that have shared interests and goals and can simultaneously act as an informal support network for the retinoblastoma community. It is our hope that patient engagement in retinoblastoma research will fill the gaps currently present in the healthcare system and ultimately improve health outcomes for future patients.