Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-cross-linking protein mainly expressed in heart and skeletal muscle, segregating in two families with autosomal-dominant RCM. Affected individuals presented with heart failure due to severe diastolic dysfunction requiring heart transplantation in some cases. Histopathology of heart tissue from patients of both families showed cytoplasmic inclusions suggesting protein aggregates, which were filamin-C specific for the p.S1624L by immunohistochemistry. Cytoplasmic aggregates were also observed in transfected myoblast cell lines expressing this mutant filamin-C indicating further evidence for its pathogenicity. Thus, FLNC is a disease gene for autosomal-dominant RCM and broadens the phenotype spectrum of filaminopathies.

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Numerous groups of health professionals have undertaken the task of defining core competencies for their profession. The goal of establishing core competencies is to have a defined standard for such professional needs as practice guidelines, training curricula, certification, continuing competency and re-entry to practice. In 2006, the Canadian Association of Genetic Counsellors (CAGC) recognized the need for uniform practice standards for the profession in Canada, given the rapid progress of genetic knowledge and technologies, the expanding practice of genetic counsellors and the increasing demand for services. We report here the process by which the CAGC Practice Based Competencies were developed and then validated via two survey cycles, the first within the CAGC membership, and the second with feedback from external stakeholders. These competencies were formally approved in 2012 and describe the integrated skills, attitudes and judgment that genetic counsellors in Canada require in order to perform the services and duties that fall within the practice of the profession responsibly, safely, effectively and ethically.

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