• segregation analysis, linkage analysis;
  
• statistical approaches to risk interpretation;
  
• cytogenetics;
  
• molecular genetics;
  
• community genetics including principles and practice of screening;
  
• developmental genetics.

• A substantial research project on a topic relevant to clinical genetics should be completed during the course of training. Up to 6 months of full-time research will be accredited but lesser periods are acceptable provided that the goals of the research project are met. Most trainees should be able to complete the research project concurrently with clinical training.
• The goals of the research project are for the trainee to gain experience in research techniques; to gain insight into the limitations and pitfalls of research in genetics; and to gain skills in critical evaluation of the research of others.
• In general these goals will be met by the trainee conducting or taking a major role in a research project which results in, or could potentially lead to, a publication in a peer-reviewed journal. Published case reports are not acceptable for this purpose, although a substantial case series may be. For example a project in which the trainee obtains ethics permission, locates and contacts a large number of patients and then examines them, collates data and reports the case series would clearly qualify. In most instances the trainee will be first author of the paper(s) resulting from the project, although second or lower authorship may be acceptable if the trainee can demonstrate a substantial role in the planning and execution of a major research undertaking (mere provision of patient material to a research group will seldom if ever qualify). It is not required that the work should be published at the time of submission. Unpublishable work may still be acceptable if the trainee can demonstrate that the goals of the research project have been met. For example, if a trainee spends a substantial time developing laboratory methods for an assay which turns out not to add importantly to the understanding of the topic, no publication is likely to result but the trainee will clearly have met the goals of the project.
• The protocol must be approved in advance by the SAC.
• A report must be submitted at the end of the project. For this purpose, a published first-author research publication automatically fulfils the requirement, and submission of a copy of the paper with a covering letter will suffice. For unpublished work the report should address the following:
   
  • the trainee’s role in the research, including the amount of time spent actually conducting the research, in hours per week and number of weeks. In laboratory projects it should be made clear which experiments the trainee carried out at the bench, and which work was done by other laboratory personnel;
     
  • the study design, methods used, ethical considerations (copy of ethics application, if any, should be submitted), patient recruitment, results of experiments, problems encountered, and discussion of outcomes.
     
  • Suggested headings:
    
    • Abstract
    • Introduction
    • Materials and methods (including ethics and patient recruitment)
    • Results to date
    • Discussion (including problems encountered)
    • Conclusions
    • Plans for the future.
       
  • The supervisor should report on the trainee’s research work, and this report should
    address the preceding points.

Trainees are strongly encouraged to submit the research proposal by September 15th of the first year of training. The proposal must be submitted by September 15th of the second year of training, and the research report must be submitted by September 15th of the third year of training.

• a clinical geneticist directing the clinical service;
  
• combined clinical, counselling and laboratory services;
  
• a library including basic texts and commonly used journals;
  
• computer facilities including pedigree drawing and analysis, clinical, diagnostic databases and Internet access