Genetics in general practice

Abstract

Background: Our improved understanding of the human genome and the genetic contributions to disease have been looming over the horizon for some decades now with great promise of improvements in prevention, prediction and treatment of diseases. Yet, as with many technological revolutions, the real gains on the ground have been much slower to emerge.

Objective: The aim of this paper is to outline some of the common genetic issues that arise in general practice clinical consultations, and the clinical scenarios in which general practitioners (GPs) may suggest genetic testing for patients or referral to one of the various specialist genetics services.

Discussion: GPs will notice that more consultations now involve some discussion of genetic issues and, indeed, there is a range of genetic tests that GPs can request. These issues and tests require detailed explanation to patients and their families.