Precariousness, Diabetes Control and Complications in French Guiana.

Aims: The social parameters of an individual impact the incidence of cardiovascular diseases. French Guiana, an overseas French territory with a lower standard of living than France, has a prevalence of diabetes mellitus that is twice that of mainland France. In this context we aimed to study the relation between precariousness, diabetes complications and glycemic control. Methods: A multicenter prospective cohort was initiated since May 2019. 1243 patients were included and their outcomes and history were compared between the precarious and non-precarious based on their EPICES score, a score that measures social isolation and precariousness. Results: 73.3% of the sample was considered precarious. Retinopathy was significantly more frequent among the deprived. There were no significant differences for other macro or microvascular complications.There was a significant difference in Glycated Haemoglobin between the precarious and non-precarious groups (8.3% (67 mmol/l) vs 8.8% (73mmol/l)). After adjusting for potential confounders, precariousness was no longer associated with poor glycemic control; the independent factors significantly associated with poor glycemic control were: not being fluent in French, having creole or portugese as mother language, and not having any insurance. Conclusions: Precariousness is a risk factor for retinal complications in patients with diabetes mellitus in French Guiana. In this chronic disease, the universal healthcare system alleviates health inequalities for many, but not all, diabetic complications.Translation and cultural mediation may further reduce health inequalities in this multicultural territory where a substantial proportion of the population is not fluent in French.

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes. We studied 583 consecutive patients from Burgundy (France) fulfilling the criteria for BRCA testing using a next generation sequencing 25-genes panel including 20 well-established high-risk cancer genes as well as more recently identified predisposing HBOC cancer. A pathogenic BRCA1/2 mutation was found in 51 patients (9%). Besides, we found 37 pathogenic or likely pathogenic mutations in 10 different high to low-risk genes in 34 patients (6%). The most frequently mutated genes were CHEK2 (n = 12; 2%), ATM (n = 9; 1.5%), and PALB2 (n = 4; 0.6%). Three patients had a mutation in two different predisposing genes. The analysis of clinical actionability conducted in mutation-positive individuals revealed that additional disease-specific screening and/or prevention measures beyond those based on personal and family history alone had been recommended in 69% of cases. In conclusion, multigene panel testing is a powerful tool to identifying high to low-risk HBOC susceptibility genes. The penetrance and spectrum of cancers with these other genes are sometimes undefined, and further collaborative work is crucial to address this question.