Unit 3: Molecular Genetics Genetic Counsellors should have the knowledge, skills and abilities to: 3.1 Understand mechanisms that lead to mutations, the different types of mutations and genetic changes and how these contribute to human variability and disease. 3.2 Understand techniques used to define and describe genes. Examples include but are not limited to family studies, genome wide association studies and comparative genomic hybridization. 3.3 Understand clinical molecular testing techniques including indications for, limitations of and the types of mutation they identify. Examples include, but are not limited to sequencing, panels, whole exome sequencing, MLPA, and linkage analysis. 3.5 Understand the presentation, frequency, inheritance pattern, molecular defect, diagnostic techniques and management of molecular disorders. 3.6 Understand the classification and interpretation of molecular variants. Unit 4: Cytogenetics Genetic Counsellors should have the knowledge, skills and abilities to: 4.1 Understand cytogenetic techniques, including indications for, limitations of each technique and the type of chromosome abnormality they identify. 4.2 Understand mechanisms that lead to numerical and structural chromosome abnormalities. 4.4 Be familiar with recognized chromosome variants of no phenotypic consequence, such as 1qh+, and the implications for genetic counselling. 4.5 Understand the presentation, frequency, cytogenetic defect, diagnostic techniques, and management of cytogenetic disorders. Examples include but are not limited to aneuploidy, translocations, chromosome breakage syndromes and microdeletion/microduplication syndromes. 4.6 Be familiar with standard cytogenetic nomenclature. Unit 5: Biochemical Genetics Genetic Counsellors should have the knowledge, skills and abilities to: 5.1 Understand the components of a metabolic pathway and the different possible effects on a pathway when an enzyme is impaired or non-functional.
Unit 3: Molecular Genetics Genetic Counsellors should have the knowledge, skills and abilities to: 3.1 Understand mechanisms that lead to mutations, the different types of mutations and genetic changes and how these contribute to human variability and disease. 3.2 Understand techniques used to define and describe genes. Examples include but are not limited to family studies, genome wide association studies and comparative genomic hybridization. 3.3 Understand clinical molecular testing techniques including indications for, limitations of and the types of mutation they identify. Examples include, but are not limited to sequencing, panels, whole exome sequencing, MLPA, and linkage analysis. 3.5 Understand the presentation, frequency, inheritance pattern, molecular defect, diagnostic techniques and management of molecular disorders. 3.6 Understand the classification and interpretation of molecular variants. Unit 4: Cytogenetics Genetic Counsellors should have the knowledge, skills and abilities to: 4.1 Understand cytogenetic techniques, including indications for, limitations of each technique and the type of chromosome abnormality they identify. 4.2 Understand mechanisms that lead to numerical and structural chromosome abnormalities. 4.4 Be familiar with recognized chromosome variants of no phenotypic consequence, such as 1qh+, and the implications for genetic counselling. 4.5 Understand the presentation, frequency, cytogenetic defect, diagnostic techniques, and management of cytogenetic disorders. Examples include but are not limited to aneuploidy, translocations, chromosome breakage syndromes and microdeletion/microduplication syndromes. 4.6 Be familiar with standard cytogenetic nomenclature. Unit 5: Biochemical Genetics Genetic Counsellors should have the knowledge, skills and abilities to: 5.1 Understand the components of a metabolic pathway and the different possible effects on a pathway when an enzyme is impaired or non-functional.
CAGC%20-%20Competences%20fondees%20sur%20le%20savoir%20(traduction%20francaise)-%20LPB%20FJP%20AS%20v2_1.docx