The top 10 retinoblastoma research priorities in Canada as determined by patients, clinicians and researchers: a patient-oriented priority-setting partnership

Kaitlyn Flegg; Maxwell J. Gelkopf; Sarah A. Johnson; Helen Dimaras

doi:10.9778/cmajo.20190221

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Figure 1:
Overview of James Lind Alliance Priority Setting Partnership method.
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Figure 2:
Flow diagram showing priority-setting process for retinoblastoma research. Note: CRRAB = Canadian Retinoblastoma Research Advisory Board.

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Table 1:

Demographic characteristics of the Canadian Retinoblastoma Research Advisory Board working group, Priority Setting Steering Committee and workshop participants

Characteristic	Group; no. (%) of participants

	Working group		Steering committee		Workshop

	Patients n = 1	Nonpatients n = 9	Patients n = 4	Nonpatients n = 11	Patients n = 10	Nonpatients n = 10
Sex

Male	0 (0)	1 (11)	0 (0)	3 (27)	1 (10)	3 (30)

Female	1 (100)	8 (89)	4 (100)	8 (73)	9 (90)	7 (70)

Category

Parent	0 (0)	NA	2 (50)	NA	6 (60)	NA

Survivor	1 (100)	NA	2 (50)	NA	4 (40)	NA

Clinician	NA	3 (33)	NA	4 (36)	NA	3 (30)

Genetic counsellor	NA	2 (22)	NA	2 (18)	NA	0 (0)

Child life specialist	NA	0 (0)	NA	2 (18)	NA	0 (0)

Nurse	NA	0 (0)	NA	0 (0)	NA	1 (10)

Ophthalmic imaging specialist	NA	1 (11)	NA	0 (0)	NA	1 (10)

Ophthalmologist	NA	0 (0)	NA	0 (0)	NA	1 (10)

Clinician-scientist	NA	1 (11)	NA	3 (27)	NA	1 (10)

Ophthalmologist	NA	1 (11)	NA	2 (18)	NA	1 (10)

Oncologist	NA	0 (0)	NA	1 (9)	NA	0 (0)

Researcher	NA	1 (11)	NA	2 (18)	NA	4 (40)

Trainee	NA	4 (44)	NA	2 (18)	NA	2 (20)

Place of residence

Ontario	0 (0)	8 (89)	2 (50)	8 (73)	6 (60)	8 (80)

Alberta	0 (0)	1 (11)	1 (25)	2 (18)	3 (30)	1 (10)

British Columbia	0 (0)	0 (0)	0 (0)	1 (9)	0 (0)	1 (10)

Other	1 (100)	0 (0)	1 (25)	0 (0)	1 (10)	0 (0)

Note: NA = not applicable.

Table 2:

Demographic characteristics of online survey respondents

Characteristic	No. (%) of respondents^*
Characteristic	Patients n = 38	Nonpatients n = 21
Age, yr, mean ± SD	38 ± 8	46 ± 9^†
Sex
Female	34 (89)	16 (76)
Male	4 (11)	5 (24)
Category
Parent	24 (63)	NA
Parent and survivor	2 (5)	NA
Survivor	8 (21)	NA
Parent and spouse of survivor	2 (5)	NA
Family	1 (3)	NA
Unaffected RB1 mutation carrier and parent	1 (3)	NA
Clinician	NA	16 (76)
Ophthalmologist	NA	5 (24)
Oncologist	NA	4 (19)
Genetic counsellor	NA	3 (14)
Child life specialist	NA	2 (10)
Molecular geneticist	NA	1 (5)
Social worker	NA	1 (5)
Clinician-scientist	NA	3 (14)
Ophthalmologist	NA	2 (10)
Medical geneticist	NA	1 (5)
Researcher	NA	2 (10)
Laterality
Bilateral	26 (68)	NA
Unilateral	11 (29)	NA
Not provided	1 (3)	NA
Place of residence
Ontario	22 (58)	12 (57)
Alberta	11 (29)	2 (10)
New Brunswick	1 (3)	0 (0)
Quebec	1 (3)	3 (14)
Nova Scotia	0 (0)	2 (10)
Not provided	3 (8)	2 (10)

Note: NA = not applicable, SD = standard deviation.
↵* Except where noted otherwise.
↵† n = 20.

Table 3:

Number of questions from online survey (phase 1) and number presented to the steering committee, by category

Category	Questions from survey						Questions removed			No. (%) of questions presented to steering committee
	No. (%)suggested by patients	No. (%) suggested by nonpatients				Overall total	Questions removed
	No. (%)suggested by patients	Clinicians	Clinician-scientists	Researchers	Total	Overall total	Out of scope	Already answered by research	Duplicate
Awareness	4 (3.5)	0	0	0	0 (0)	4 (2.3)	1	0	0	3 (2.3)
Diagnosis	9 (7.9)	4	0	0	4 (7)	13 (7.4)	0	0	4	9 (7.0)
Family planning	7 (6.1)	1	0	0	1 (2)	8 (4.6)	1	2	0	5 (3.9)
Follow-up	9 (7.9)	1	1	0	2 (3)	11 (6.3)	0	0	0	11 (8.5)
Genetics and molecular	31 (27.2)	3	4	7	14 (23)	45 (25.7)	6	3	8	28 (21.7)
Global health	0 (0.0)	2	0	1	3 (5)	3 (1.7)	0	0	0	3 (2.3)
Psychosocial	15 (13.2)	11	0	1	12 (20)	27 (15.4)	0	0	3	24 (18.6)
Second cancer	22 (19.3)	6	1	0	7 (11)	29 (16.6)	0	1	9	19 (14.7)
Treatment	6 (5.3)	14	1	0	15 (25)	21 (12.0)	3	0	4	14 (10.8)
Trilateral retinoblastoma	2 (1.8)	1	0	0	1 (2)	3 (1.7)	0	1	0	2 (1.6)
Vision	7 (6.1)	0	0	0	0 (0)	7 (4.0)	0	0	0	7 (5.4)
Miscellaneous	2 (1.8)	2	0	0	2 (3)	4 (2.3)	0	0	0	4 (3.1)
Total	114 (65.1)	45	7	9	61 (35)	175 (100.0)	11	7	28	129 (100.0)

Table 4:

Top 30 retinoblastoma research priorities

Final rank	Category	Question	Aggregate ranking
Final rank	Category	Question	First	Second
1	Diagnosis	How to increase early diagnosis of retinoblastoma (i.e., decrease age or stage at diagnosis)?	7	1
2	Second cancer	What second cancer screening is optimal for heritable retinoblastoma survivors (including whole body magnetic resonance imaging)?	1	1
3	Psychosocial	How to provide culturally competent social, emotional and psychological support to patients with retinoblastoma, survivors, parents and families (at diagnosis and beyond)?	2	2
4	Follow-up	What is the optimal follow-up (including ophthalmologic and oncologic) for patients with heritable retinoblastoma and survivors (by diagnosis and treatment), and how can we ensure this is provided to all?	9	3
5	Treatment	Prospective retinoblastoma treatment studies with long-term follow-up	5	4
6	Psychosocial	What is the effect of enucleation and vision loss on retinoblastoma survivors?	11	5
7	Second cancer	What are the risk factors for second cancers in heritable retinoblastoma survivors, and, in turn, what do heritable retinoblastoma survivors need to know about living well and minimizing risk of second cancers?	7	6
8	Miscellaneous	How to improve collaboration across the different top centres caring for retinoblastoma: forming an international consortium, a unified registry and combined trials, instead of the current air of competition?	17	10
9	Follow-up	How to provide a detailed pathway of care or plan, outlining treatment and follow-up, to patients with retinoblastoma and families?	13	8
10	Global health	How can optimal retinoblastoma care be delivered in low-resource settings (including rural and remote communities)?	4	9
11	Treatment	Clinical trials of novel agents, targeted agents added to “backbone” chemotherapy or intra-arterial chemotherapy to improve eye-salvage rates	3	9
12	Genetics and molecular	What genetic mechanism results in second cancers in heritable retinoblastoma survivors?	10	7
13	Treatment	Better identification of who needs chemotherapy after high-risk pathologic findings	12	10
14	Diagnosis	What new technology could be used to diagnose retinoblastoma earlier, including noninvasive in utero testing?	6	11
15	Awareness	How to increase family doctor/pediatrician awareness of retinoblastoma (i.e., signs and symptoms, and the importance of early diagnosis), and screening and diagnosis of retinoblastoma?	6	12
16	Psychosocial	How can we help families cope better during diagnosis and critical stages (including enucleation)?	8	13
17	Second cancer	What are the risks of second cancers for mosaic RB1 mutation carriers (i.e., those in whom RB1 mutation is present in some but not all cells in their body)?	18	14
18	Treatment	How to reduce side [adverse] effects from retinoblastoma treatments?	12	15
19	Genetics and molecular	Can we identify the key molecular event that distinguishes retinoma (benign retinoblastoma precursor) from retinoblastoma?	16	16
20	Genetics and molecular	Can a known RB1 gene mutation be corrected?	15	18
21	Follow-up	How to improve the sensitivity of minimal residual disease (i.e., metastasized cancer cells that cannot be detected by routine tests) diagnostics in retinoblastoma?	20	17
22	Genetics and molecular	How to communicate with and educate patients, survivors and parents about retinoblastoma genetics and their specific retinoblastoma genetic testing results (including new tools, techniques and innovations)?	16	19
23	Family planning	What is the best way to support and educate heritable retinoblastoma survivors before they have their own children and to ensure their children have optimal perinatal care?	14	20
24	Genetics and molecular	How can second cancers be prevented in heritable retinoblastoma survivors?	13	21
25	Second cancer	What is the second cancer incidence among heritable retinoblastoma survivors?	18	22
26	Genetics and molecular	How can we reduce the risk of second cancers in heritable retinoblastoma survivors?	19	22
27	Psychosocial	What social, emotional and psychologic support services are available across Canada for patients with retinoblastoma, survivors and parents (i.e., comparisons nationally)?	21	23
28	Psychosocial	What is the impact — on mental health, finances, employment, siblings and family life — when one must travel long distances for retinoblastoma care?	22	24
29	Vision	How can scar tissue/calcium in the eye from retinoblastoma treatment be removed to give better vision?	23	25
30	Genetics and molecular	What causes heritable (germline) and nonheritable (somatic) retinoblastoma mutations?	24	26