Cree Leukoencephalopathy and Cree Encephalitis Carrier Screening Program: A Comprehensive Evaluation of a Community-based Carrier Screening Program

Jessica Le Clerc-Blain1,2,3, Valérie Gosselin4, Annie Bearskin5, Jill E. Torrie4, Hélène Denoncourt4, Brenda Wilson6, Grant Mitchell1,2,3, Andrea Richter1,2,3, Anne-Marie Laberge1,2,3

1. Medical Genetics Division, CHU Sainte-Justine (Montreal, Quebec); 2. Department of Pediatrics, University of Montreal (Montreal, Quebec); 3. CHU Sainte-Justine Research Center (Montreal, Quebec); 4. Cree Board of Health and Social Services of James Bay (Chisasibi, Quebec); 5. Eeyou Awaash Foundation (Chisasibi, Quebec); 6. Department of Epidemiology and Community Medicine, University of Ottawa (Ottawa, Ontario, CANADA)

Statement of purpose: Cree Encephalitis (CE) and Cree Leukencephalopathy (CLE) are two severe neurodegenerative autosomal recessive diseases with high carrier rates in the James Bay Cree communities of Northern Quebec (Canada). A population-based education and carrier screening program (ECSP) was developed by local health authorities, in collaboration with a community family support group (Eeyou Awaash Foundation; EAF). The CE-CLE ECSP offers education/counseling sessions and carrier screening, targeting two groups: high school students (≥ 14 years), and women of reproductive age and their partners, mostly in prenatal settings. The CE-CLE ECSP has not been evaluated since its start in 2006.

Objectives: Through a community-based approach, including partnership with the local health authorities and the EAF, our main objective is to evaluate the CE-CLE ECSP through: 1) description of the lived experience of couples who participated in the CE-CLE ECSP, 2) retrospective evaluation of screening outcomes, and 3) assessment of participant knowledge and satisfaction at an individual level.

Methodology: We used a phenomenological approach to evaluate the lived experience of couples who have gone through the CE-CLE ECSP. Retrospective screening outcomes were evaluated using existing data collected by the CE-CLE ECSP. Assessment of participant knowledge and satisfaction was evaluated through surveys done before and after the ECSP education sessions to grade 9-11 high school students.

Results: Themes identified through couple interviews included general satisfaction with the program and the importance of the program for the community. Couples emphasized the importance of having access to prenatal diagnosis for carrier couples, mostly because it allows early diagnosis and reduces uncertainty about the status of the child to come. Retrospective analysis of the screening outcomes shows that 1172 students were offered screening in the school-based ECSP. Of those, 482 (41.1%) were screened. In the prenatal/preconception setting, 379 individuals were offered screening. Of those, 325 (85.7%) were screened. Overall, out of six at-risk pregnancies, five women/couples chose to perform prenatal diagnosis. We estimate the population- based carrier rate as 1/11 for CLE and 1/17 for CE, in contrast to incidence-based carrier rates previously calculated at 1/10 and 1/30, respectively. Surveys with high school students demonstrate that education sessions seem to have a positive impact on high school students’ knowledge of CE-CLE. High uptake and positive image of carrier screening confirms its acceptability in high schools.

Further studies: We will evaluate the CE-CLE ECSP prospectively to assess screening outcomes. We are assessing high school screening outcomes one year after participation in initial surveys. We are surveying couples who received counseling services, and health professionals on their knowledge and views of the CE-CLE ECSP. Local health authorities hope to work with the researchers to develop a long-term plan for periodic evaluation of the program once this evaluation is complete.

Conclusion: The results of this work will inform the improvement of the program and serve as a model for the development of other population screening programs, particularly in other Canadian First Nation communities.