The examination will cover a comprehensive working knowledge of the scientific, clinical and technical aspects relevant to the practice and development of clinical genetics science. Candidates should have a sound understanding of human genetics and genomic medicine with a good knowledge of the previously separate disciplines of molecular genetics and cytogenetics. An understanding of the role of related pathology specialities such as biochemistry, immunology, microbiology, haematology and histopathology within the patient pathway is required. The Part 1 examination is the major test of a genetics scientist’s knowledge and analytical and interpretive skills across the whole field of practice, and candidates are advised to prepare themselves accordingly.
A detailed and up-to-date knowledge of the following subjects is required: the structure and organisation of the human genome at both the chromosome and DNA level; understanding of the cell cycle; regulation of gene expression; identification of disease genes, clinical relevance and interpretation of all types of variants, methods of variant detection 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.
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.