Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)

Tremblay, Marc Adélard; Rouleau, Gabrielle

doi:10.1080/03014460.2017.1300326

Cited by 2 publications

(3 citation statements)

References 28 publications

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“… Translate genomics applications for population health and community-based human genomic research Assess individuals’ preferences to learn genomic information, assess family-based interventions, implementation of screening approaches, and assess how social environmental inform understanding of gene-environment associations. Efforts in ethical, legal, and societal implications (ELSI) of human genomics research [ 24 ], NCGENES2 [ 25 ], and CARTaGENE project [ 26 , 27 ]. Public understanding of precision public health, genetic and genomic risk communication, adequate reach of precision public health interventions, precision public health intervention development and testing of interventions to promote behavior change, and new behavioral targets that may be informed by precision-based approaches • Health Policy: Supporting implementation of cascade screening; ethical implementation of new human genomics discoveries.…”

Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

“…Efforts in ethical, legal, and societal implications (ELSI) of human genomics research [ 24 ], NCGENES2 [ 25 ], and CARTaGENE project [ 26 , 27 ].…”

Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

“…The first public engagement highlighted the importance of transparency, maintaining confidentiality, and ensuring the ability for donors to provide feedback and guidance. Further, the team found a need to tailor and target communication about the project across patient populations [ 26 , 27 ]. Other related research has incorporated the patient voice by assessing patient and family preferences for learning genomics information in order to inform family-based interventions that aim to disseminate genetic information to families at high risk of disease [ 68 – 72 ].…”

Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

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Advancing precision public health using human genomics: examples from the field and future research opportunities

et al. 2021

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Precision public health is a relatively new field that integrates components of precision medicine, such as human genomics research, with public health concepts to help improve population health. Despite interest in advancing precision public health initiatives using human genomics research, current and future opportunities in this emerging field remain largely undescribed. To that end, we provide examples of promising opportunities and current applications of genomics research within precision public health and outline future directions within five major domains of public health: biostatistics, environmental health, epidemiology, health policy and health services, and social and behavioral science. To further extend applications of genomics within precision public health research, three key cross-cutting challenges will need to be addressed: developing policies that implement precision public health initiatives at multiple levels, improving data integration and developing more rigorous methodologies, and incorporating initiatives that address health equity. Realizing the potential to better integrate human genomics within precision public health will require transdisciplinary efforts that leverage the strengths of both precision medicine and public health.

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Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

“…Efforts in ethical, legal, and societal implications (ELSI) of human genomics research [ 24 ], NCGENES2 [ 25 ], and CARTaGENE project [ 26 , 27 ].…”

Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

Section: Examples Of Integrating Human Genomics Research and Public Healthmentioning

confidence: 99%

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Advancing precision public health using human genomics: examples from the field and future research opportunities

et al. 2021

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The burden of familial chylomicronemia syndrome in Canadian patients

Gaudet

Stevenson

Komari³

et al. 2020

Lipids Health Dis

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Background Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by persistent extreme hypertriglyceridemia as a result of lipoprotein lipase deficiency. Canada is an important region for FCS research due to the high prevalence rates. The burden of illness and quality of life of Canadian patients, however, have been inadequately addressed in the literature. Objective To understand the burden of illness of FCS on Canadian patients’ lives. Methods IN-FOCUS is a global web-based survey open to patients with FCS, including patients in Canada. This survey captured information on diagnostic experience, symptoms, comorbidities, disease management, and impact on multiple life dimensions. Results A total of 37 Canadian patients completed the IN-FOCUS survey. Patients saw a mean of 4 physicians before their FCS diagnosis despite 89% reporting an FCS family history. Patients experience multiple physical, emotional, and cognitive symptoms in addition to FCS-related comorbidities. Notably, 35% of those who answered the survey have experienced acute pancreatitis, averaging 14 lifetime episodes per patient. In the preceding 12 months, 46% of patients had an FCS-related hospitalization, averaging 3 nights’ stay. All respondents restricted fat intake, with 27% following an extremely low-fat diet. Despite this, 100% of patients reported fasting TG levels above the normal range. FCS impacted career choice in nearly all patients (97%) and employment status in all patients who were employed part time, disabled, or homemakers, causing many (> 75%) to choose careers below their level of abilities. Furthermore, 2/3 of patients reported FCS had a significant impact on their decision regarding whether to have children. Most report significant interference with their emotional/mental well-being, social relationships, and the majority were concerned about the long-term impact of FCS on their health (89%). Conclusions This study provides the first and largest study to investigate the multi-faceted psychosocial and cognitive impacts of FCS on patients. Canadian patients with FCS experience significant multi-faceted burdens that diminish their quality of life, employment opportunities, social relationships, and mental/emotional well-being. These results highlight the need for greater disease awareness, improved clinical diagnosis, broader clinical management for heterogenous symptoms, and more effective treatment options for FCS.

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Deep genealogical analysis of a large cohort of participants in the CARTaGENE project (Quebec, Canada)

Cited by 2 publications

References 28 publications

Advancing precision public health using human genomics: examples from the field and future research opportunities

Advancing precision public health using human genomics: examples from the field and future research opportunities

The burden of familial chylomicronemia syndrome in Canadian patients

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