Clinical Cytogenetics
The examination will cover all aspects of clinical cytogenetics, including prenatal and postnatal diagnosis, cancer cytogenetics (leukaemia and solid tumours) molecular cytogenetics and chromosome breakage syndromes. Candidates should have a sound understanding of human genetics and genomics, and a basic knowledge of molecular genetics. 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 function of the human genome, the structure and function of human chromosomes, the clinical relevance of chromosome abnormalities – both constitutional and acquired, the practical techniques used for the preparation and analysis of chromosome preparations and molecular cytogenetics including FISH and microarray CGH.
A general knowledge of the following areas is required: a general knowledge of the sciences basic to genetics with particular reference to human genetics, Mendelian inheritance, disease gene identification, the fundamental principles of cell biology, aspects of epidemiology, statistics, common genetic disorders and the principles of genomic technology.
Candidates should have experience in the interpretation of results and the compilation of reports. Candidates should also have knowledge of the administrative aspects of laboratory safety and basic laboratory management principles including audit, quality control, risk assessment, health and safety, and good laboratory practice. Candidates should maintain awareness of current research and development within the field.
Information on the Part 1 Examination (including sample questions) can be found under Genetics.
For information on the changes to the Genetics Examinations see the News section.
Part 2
Written component
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 cytogenetics or molecular cytogenetics. 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.
The aim of the examination, as stated in the guidelines above, is to establish that the candidate has demonstrated a level of competence appropriate for independent practice at consultant level.
The examination will test the candidate’s:
- scientific knowledge relevant to their branch of genetics (molecular or cytogenetics), including recent relevant literature
- ability to apply basic knowledge appropriately in a clinical context
- communication skills, particulary clinical liason 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.
Guidelines for the standards expected of the written options for the Part 2 examination are outlined in the general examination regulations and guidelines, available on the Exams section of the College website (www.rcpath.org/exams).
The written component is independently marked by two examiners and awarded a pass, fail or a conditional pass subject to further work or modification.
The oral is conducted by two pairs of examiners and awarded either a pass or fail mark. Each candidate within the same examination session is asked the same questions as relating to the different subject areas of the examination.
