Specialist training in Clinical Genetics - CASE REPORTS

u                  Number - Two per year in each year of training

u                  Purpose - Submission of case reports is intended to show an accumulation of experience in the complete management of families, so they should contain more than reports of new research, posters or grant applications.

Publications may be submitted as case reports, providing the SpR is the first author.  A counselling issue section should be added to publications submitted as case reports.

u         Subject matter - The case reports should cover different subjects, including: 

-          Cytogenetics

-          Molecular genetic tests/clinical correlation

-          Dysmorphology/clinical diagnosis

-          Predictive testing for adult onset disease

(e.g. Huntington’s/cancer syndromes)

-          Prenatal diagnosis

-          Difficult counselling/ethical issues

u         Structure

v      Summary

v      Introduction and reason for consultation

v      Clinical section

-          History

-          Pedigree

-          Clinical examination/investigations

v      Discussion – Review of the topic to include differential diagnosis, clinical and scientific issues when appropriate.

v      Counselling issues – This should not just address diagnostic problems or recurrent risks but include:

-          the reason for seeking assessment, the dilemmas faced by the consultand, emotions at play (e.g. fear, grieving, guilt, anger, psychological defence mechanisms)

-          Consultand’s understanding of discussion of testing, penetrance/occurrence risk, recurrence risk, natural history, variability, prenatal and/or diagnostic testing

-          The benefits/limitations of testing, any uncertainty around results

v    Outcome

-          Management plan, including plans for counselling relatives at risk

-          Information given

v      Bibliography/reference list

u         Lengths of reports – Somewhere between 2,000 and 3,000 words

u         Examples of representative case reports – Dr Susan White kindly agreed that some of her case reports could be used as examples.  Copies of these are available from Dr Sue Huson.