Box 1.

Learning outcomes in genetics and genomics for specialty trainees in non-genetic specialties.

Describe the structure, function, and transmission of the human genome, and how its expression is regulated through genetic and epigenetic mechanisms (as the basis for understanding human diseases).
Be able to describe and differentiate the types and relative frequencies of variations in the human genome, how they arise, and how they contribute to health and disease through their effects on gene expression.
Know the genetic or genomic basis for disorders encountered in the specialty, and whether they follow a specific mode of inheritance.
Recognise, in conjunction with family history or as an isolated presentation, the subset of patients whose condition has a genetic basis (eg as a single gene condition), and institute appropriate genetic management for them and their family.
Order tests using genetic technologies appropriately, interpret the results and apply them in the context of clinical management.
Be able to communicate genetic and genomic concepts, probability information, and test results, to facilitate engagement and choice for the patient and their family in managing their condition.
  • Adapted from National Genetics and Genomics Education Centre.26