Genetics
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.
Part 1
Paper 1: Essay paper primarily based on the application of clinical genetic and genomic science, including laboratory management issues.
Paper 2: Short answer questions paper primarily based on clinical genetic and genomic science, containing questions on the more theoretical aspects of the subject
Part 2
The aim of the oral examination is to establish that the candidate has demonstrated a level of competence appropriate for independent practice at consultant level.
The examination will test the candidates’:
- scientific knowledge, including recent relevant literature
- ability to apply basic knowledge appropriately in a clinical context
- communication skills, particularly clinical liaison skills to enable them to offer appropriate advice to their clinical colleagues, and to think through the consequences of advice for patient management.
- understanding of laboratory organisation and direction, including principles of budget control, quality control, safety and staff management.
The oral examination will last for 60 minutes and will be conducted by two pairs of examiners, 30 minutes being spent with each pair of examiners. For each question in each section the panel of examiners will determine the pass standard using a closed marking scheme. Candidates will have to achieve a pass in both sections to secure an overall pass in the oral examination. Compensation of marks between the two sections is possible for candidates with a borderline fail in one section.
The Part 2 Practical examination lasts for six hours: 3 hours in the morning followed by a lunch break, and then 3 hours in the afternoon. The practical examination contains a mixture of analytical, problem-solving and interpretative questions. Candidates must answer all questions.
There are four options for the written component:
a) a casebook.
b) a dissertation
c) a minimum of three refereed published papers
d) a PhD/MD thesis, normally completed during the training period.
Further details regarding the format of the casebook can be found outlined in the Genetics Regulations and Guidlines.
The research work used for the basis of a dissertation or PhD thesis should be on the topic of human genetics or genomic medicine. The work should also be reasonably up to date. Thus a PhD obtained before the attainment of the Part 1 examination will probably not be acceptable for submission and the research work done can be rewritten as a dissertation that brings the results and subject matter up to date in the light of current research and publications in the subject.
Candidates are required to submit the written work within three years of having the proposal approved. Candidates who fail to submit the work within that time will be required to apply for an extension, giving reasons, or submit a new proposal.
Candidates do not need to have passed the written option before proceeding to the Part 2 Oral/Practical and Oral examination but must have their project proposal approved prior to the closing deadline for the examination session in which they wish to sit.
