The examination will cover a comprehensive working knowledge of the scientific, clinical and technical aspects relevant to the practice and development of clinical molecular genetics. Candidates should have a sound understanding of human genetics and genomics, and a basic knowledge of cytogenetics. An understanding of the role of related disciplines such as biochemistry, immunology, microbiology, haematology and histopathology within the patient pathway is required.
A detailed and up-to-date knowledge of the following subjects is required: the structure and organisation of the human genome; identification of disease genes, interpretation of variants, regulation of gene expression, methods of genetic and genomic testing for diagnosis, prognosis and monitoring; patterns of inheritance; monogenic and multifactorial gene disorders including familial cancer, molecular pathology of genetic disorders, genotype-phenotype relationships and therapeutic interventions.
A general knowledge of the following areas is required: general principles of human genetics, including principles of gene inheritance; general principles of cytogenetics, including the structure and function of chromosomes; an understanding of cell division and knowledge of common chromosome disorders; relevant aspects of epidemiology and statistics.
Candidates should have experience in the interpretation of results and the compilation of reports, assessment of clinical relevance and the limitations of investigations, risk calculation and assessment, the use of genetic and genomic databases.
Candidates should also have knowledge of the administrative aspects of laboratory safety and laboratory management including audit and quality control. The candidates should maintain awareness of current research and development within the field.
For information on the changes to the Genetics Examinations see the News section