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Opinion Piece: Knowledge, Experiences and Attitudes Concerning Genetics Among…

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.

Job Opportunity for Individuals with Lived Experience of Retinoblastoma

Researchers at The Hospital for Sick Children will soon be recruiting an individual with lived  experience of retinoblastoma (e.g., survivor, parent etc.) to help lead a research project. More information about this paid researcher position will be distributed on social media. If interested, email retinoblastoma.research@sickkids.ca.

The Retinoblastoma Research Priority Setting Workshop Was A Success!

From October to December 2017, we conducted a project to identify the top 10 retinoblastoma research priorities.

Thank you to everyone who participated! Results will be made available spring/ summer 2018.

Save the Date: Retinoblastoma Research Symposium

December 9 & 10, 2017
Toronto, Ontario
Click here to learn more.

Establishing the “Top 10” Retinoblastoma Research Priorities

Please consider participating in a brief online survey and sharing information about this project with others affected by retinoblastoma and your health professionals. SURVEY CLOSED NOVEMBER 12.

A patient’s perspective on priorities in retinoblastoma research

To introduce myself, I am a former retinoblastoma (RB) patient and RB survivor. I was diagnosed in the early 1980s and treated at SickKids; my left eye was enucleated and I received chemotherapy and radiation over the course of about a year. Living in Ontario, I returned to the eye clinic and the oncology clinic at SickKids each year until I turned 18. Gradually over those years, thanks to the attentive care I received, the impact of the initial diagnosis and treatment faded. And over the next 15 years I did not often think about RB, save for a background level of vigilance with respect to my health: awareness of the possibility of secondary tumors, and potential for slow manifestation of side effects of my childhood surgery, radiation, and chemo.

Just over a year ago, that vigilance led me to follow up on what I thought may be a sports injury but turned out to be a secondary tumor. I was then treated for a soft tissue sarcoma that I learned to be one of the more common types of secondary tumor to develop in those with an RB mutation. I now found myself facing a cancer diagnosis as an adult, devoting a great deal of thought to making significant health care decisions for the first time.

It has been a happy coincidence to learn of the Canadian Retinoblastoma Research Advisory Board (CRRAB) and the study on setting RB research priorities led by Dr. Dimaras and her team. My recent diagnosis and treatment experience have led me to think about RB from a new perspective and, ultimately, to articulate what I consider to be RB research priorities.

The first issue that came up for me was a feeling of being among the fewest of the few. Struck twice by lightning, or doubly star-crossed, depending on how you look at it! RB is a relatively rare tumor, and the sarcoma that surfaced in my 30s is a subtype of another relatively rare tumor. For understandable reasons, much of the data on treating my secondary tumor comes from patients with the most common subtype. But what I began to appreciate is that just because something works for the majority of cases, doesn’t mean that it will work for all cases.

For this reason, I feel it should be a priority to track patients like myself, RB survivors, through adolescence and adulthood to gain more data on the types of tumors that can appear in those carrying an RB gene mutation. While not all RB survivors will develop secondary tumors, the only way to begin to piece together how one cancer predisposition links to another is to collect more data. With relatively few of us out there in the world, the more patients that participate in these types of studies the better. This type of research would also provide insight on causes of the relatively rare secondary tumors, and inform best treatment options for childhood cancer survivors.

A second question I had after diagnosis was whether I could share my tumor samples or other data about my pathology and treatment with a centralized data bank, so that cancer biologists could access the samples along with others from RB patients. I now know that a first step toward this goal is to join the Canadian Retinoblastoma Research Registry. Yet, I expect that determining how to best identify potentially useful samples, how to coordinate the preparation and transport of the tissue to a central sample bank, and how to organize access and distribution of the samples, could all be fruitful areas to explore.

I have no doubt that as I continue to move through my cycles of follow-up, I will have new unanswered questions. I’m really thrilled to participate in this research priority setting study for this reason, but also to hear the perspective of other RB patients and their families. I predict an offshoot of the efforts of the CRRAB, Dr. Dimaras, and her research group will be a stronger RB community, which I look forward to being a part of. If you are reading this and considering whether or how you could contribute, I urge you to join the Canadian Retinoblastoma Research Registry, participate in the Priority Setting Study and reach out to the RB Canada Research group via this site and join us!

Precision Medicine for Retinoblastoma

Watch Dr. Jesse Berry (Ocular Oncologist, Children’s Hospital Los Angeles) describe how a small amount of fluid from the front of the eye, called aqueous humor, may provide information about the genetic profile of retinoblastoma tumors.

Join our Priority Setting Steering Committee

One Retinoblastoma World Conference 2017

By: We C Hope

We encourage the generation and use of robust scientific evidence to guide care.

One Retinoblastoma World is a global network with the bold idea that all children with RB can have equal opportunity to access optimal care. When diagnosed early and treated effectively, childhood eye cancer is curable. No child should die, or suffer avoidable blindness because of it.

Many challenges impede scientific research needed to develop evidence based care, but One Retinoblastoma World is breaking down those obstacles.

This year’s program evolved from 10 questions commonly asked by parents and survivors.  Each question will be explored in depth through a combination of presentations, open floor discussion and small-group breakout sessions.

Providing educational and networking opportunities for all stakeholders, this working meeting will focus on building connections and collaborations to advance care for all children, survivors and families.  Engaging clinicians, researchers, families and survivors together will create shared learning and novel partnerships.

World Eye Cancer Hope USA founding board member and One Retinoblastoma World conference chair Marissa Gonzalez is most excited about the Family Social Day.

“Bringing together parents, patients and survivors in person for the first time on a national and international scale in the USA will be an incredible opportunity for learning, bonding and in many cases healing from shared experiences. For some, it will be the first time they meet a fellow RB survivor – forging these new relationships and strengthening existing ones will be an incredible experience for all involved.” – Marissa Gonzalez

Lower registration fees are available for clinicians from Low and Lower-Middle Income Countries, and for parents and survivors, to enable vital inclusive global collaboration.

For further information about this year’s meeting, please visit the following pages.

• About One Retinoblastoma World
• 2017 Program
• Discover Washington D.C.
• Registration
• Accommodation

Please join us in Washington D.C. this October. Be part of the best future we can create for all children, survivors and families affected by childhood eye cancer, and those who care for them.

2017 Meeting

Crystal City Marriott

Washington D.C., USA

(Arlington, VA)

Family Social Day: Monday October 9

Full Program: October 10 – 11