by Nikou Kelardashti
Graphic design by Anais Lupu
Retinoblastoma is the most common type of eye cancer diagnosed in infants and young children. The incidence of retinoblastoma is uniform across populations at one in 16,000 to 18,000 live births.1 This malignant cancer begins in the retina of the eye and is caused by mutations in a tumour suppressor gene called the retinoblastoma gene (RB1).1 Depending on the timing and location of the RB1 mutation, retinoblastomas can be either heritable or non-heritable. Children with heritable retinoblastoma can have tumours in one or both eyes and are at a higher risk of developing secondary cancer in the future.1 This makes genetic testing for RB1 mutations a valuable tool that is available for at-risk individuals in Canada and other high-income countries (HICs). However, many of the low- and middle-income countries (LMICs) lack this type of care. This is only one of the underlying reasons for the global disparity in survival outcomes of children with retinoblastoma.
Dr. Helen Dimaras—a Scientist and Director of Global Eye Health Research in the Department of Ophthalmology & Vision Sciences at The Hospital for Sick Children (SickKids)—focuses on delivering optimal care for retinoblastoma patients globally. Dr. Dimaras completed her Ph.D. in Molecular & Medical Genetics at the University of Toronto, where she investigated the genetics of retinoblastoma. It was during this time that she developed an interest in global health and the social determinants of health in retinoblastoma cases. Dr. Dimaras completed her postdoctoral training at SickKids, through which she was able to become more involved in global health by working on a capacity-building project being developed at SickKids with collaborators at the University of Nairobi. As a result of her extensive research in the field, Dr. Dimaras is a pioneer and expert when it comes to looking at retinoblastoma through the lens of global health.
Although retinoblastoma is a curable disease in HICs, it remains a significant challenge in many LMICs with large populations and high birth rates.2 LMICs have more than 80% of global retinoblastoma cases; however, they have a poor prognosis due to the limited availability of healthcare services resulting in delayed diagnosis and treatment.2 Therefore, one of the key factors that can alleviate the health inequality seen in retinoblastoma cases is universal health care. “When there is a unified approach in health care, families can navigate it and feel confident in it,” Dr. Dimaras explains.
Dr. Dimaras was part of the Kenyan National Retinoblastoma Strategy (KNRbS), a remarkable initiative that was launched in 2008 to improve the quality of care and survival of retinoblastoma patients in Kenya. As Dr. Dimaras explains, designing and conducting global health research teaches you “how to overcome challenges by focusing on removing barriers and implementing solutions known to work.” As a result of the KNRbS’s success, other countries such as Ethiopia and Ghana have initiated their national retinoblastoma strategies based on the lessons learned from the KNRbS.
One of the main features of Dr. Dimaras’s research is to utilize patient-oriented methods to conduct global health research on retinoblastoma. According to the Canadian Strategy for Patient-Oriented Research (SPOR), patient-oriented research involves including individuals with the lived experience of a health condition, their family members, and informal caregivers as partners in the research process.3 “Patients are experts by experience,” Dr. Dimaras says. “Lived experience is important and research should be driven by what the community wants [scientists] to do. This is a central tenet in global health, and it is now making its way to everyday research.”
Inspired by the community engagement methods of global health, Dr. Dimaras established the Canadian Retinoblastoma Patient Engagement Strategy. The overall goal of this strategy is to more efficiently address the needs of retinoblastoma patients through meaningful engagement and co-direction of research with patients. As a part of this strategy, the Canadian Retinoblastoma Research Advisory Board (CRRAB) was established in 2016 with three main aims and is co-led by Dr. Dimaras and a patient partner. The first aim of CRRAB is to identify a diverse population of individuals affected by retinoblastoma and have them join this community. The second aim is to share research results with the community by hosting an annual retinoblastoma research symposium and organizing a lay language journal club called Cup of Tea. The Cup of Tea events allow patients to work with scientists and clinicians to produce lay summaries of research papers for presentation at the event, thus sharing research with a wider community. Lastly, CRRAB aims to empower retinoblastoma patients and promote research that is created and led by the patients alongside researchers.
The success of the CRRAB program allowed Dr. Dimaras and her lab to conduct a priority-setting exercise. In this project, clinical and scientific experts, alongside individuals affected by retinoblastoma, were invited to determine and rank the top ten unanswered research questions in the field of retinoblastoma in Canada. The goal of this project was to encourage researchers, advocacy groups, and funding agencies to align their goals with the priorities identified. The highest priority challenge recognized by the participants in this study was regarding the improvement of early detection of retinoblastoma.4 This is noteworthy as it shows the importance of early cancer detection even in a HIC such as Canada, where the diagnosis of retinoblastoma happens much earlier compared to many LMICs. Although the Canadian Paediatric Society recommends eye examination of children when newborn to three months and at six to 12 months, the mean age at diagnosis for bilateral and unilateral retinoblastoma in Canada is 15 and 27 months, respectively.4 This suggests either inefficiency of guidelines in diagnosing retinoblastoma or poor adherence to them.
Notably, two of the other challenges identified in the priority-setting exercise were related to the psychosocial health of individuals affected by retinoblastoma. “What retinoblastoma families have been telling us is that they are enjoying good survival because of the care they are receiving, but they feel that their psychosocial needs are unmet,” Dr. Dimaras explains. Guided by these identified challenges, Dr. Dimaras is currently working on a project to further understand the psychosocial experiences of retinoblastoma patients and their families in order to better cater to their unmet psychosocial needs.
Multidisciplinary scientists like Dr. Dimaras, who are highly dedicated to identifying and fulfilling the needs of their patients, provide a bright outlook for research, especially pediatric research. In particular, Dr. Dimaras highlights the importance of including more diverse populations in research and capacity building in the future. “We should support inquiry,” Dr. Dimaras says. “As we improve diversity and include different people in research, we are going to see more innovative and different research with maybe even different results.”
- Dimaras H, Corson TW, Cobrinik D, et al. Retinoblastoma. Nature reviews disease primers. 2015 Aug 27;1(1):1-23.
- Fabian ID, Abdallah E, Abdullahi SU, et al. Global retinoblastoma presentation and analysis by national income level. JAMA oncology. 2020 May 1;6(5):685-95.
- Government of Canada CI of HR. Strategy for patient-oriented research [Internet]. CIHR. 2022. Available from: https://cihr-irsc.gc.ca/e/41204.html
- Flegg K, Gelkopf MJ, Johnson SA, Dimaras H. The top 10 retinoblastoma research priorities in Canada as determined by patients, clinicians and researchers: a patient-oriented priority-setting partnership. Canadian Medical Association Open Access Journal. 2020 Apr 1;8(2):E420-8.
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