Molecular Genetics
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
Part 1
Please note that the last Part 1 examination in Clinical Cytogenetics was held in 2017.
From 2018 all candidates will sit the Part 1 Genetics examination which will be held once a year in Autumn.
Part 2
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 molecular genetics. 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.
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 clinical molecular genetics, including recent relevant literature
- ability to apply basic knowledge appropriately in a clinical context
- understanding of laboratory organisation and direction, including principles of budget control, quality control, safety and staff management.
Each of these aspects will occupy approximately one-third of the examination. The candidate should pass in all three areas. The examination will last about 1 hour.
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 examiners, usually different to those who examined the written component, and awarded either a pass or fail mark. Each candidate within the same examination session is asked the same questions as relating to the three different subject areas of the examination.
