This article outlines a practical means of understanding different types of genetic testing for use in the consulting room. Izatt and colleagues have used an example case study to represent the approach for a ‘standard patient’. They then proceed to explain various testing methods and give a brief description of the role of genetic testing in the management of a range of hereditary endocrinological conditions.

Consideration is also given to talking about the results with patients and their families, including difficulties in discussions regarding pregnancy planning and understanding the likelihood of transmissibility between generations.

The figures are quite useful in summarising the information outlined in the article. This guide should support clinicians who are trying to gain an understanding and incorporate this into their clinical practice, where applicable.

Read the full article in Clinical Endocrinology.