The challenge of integrating genetic medicine into primary care

Abstract

The likely increases in availability of DNA based tests and demand by patients for genetic information and advice mean that primary care practitioners will need to become genetically literate. 1 2 Genetic medicine is already beginning to enter the realms of primary care through the availability of testing for predisposition to certain cancers and carrier screening and diagnostic tests for common recessive disorders such as cystic fibrosis and hereditary haemochromatosis. For the near future these issues will probably remain the focus of genetic medicine in primary care, but this could shift if pharmacogenetic research fulfils even some of its early promises. We discuss the implications of genetic advances for primary care, how genetic medicine could be integrated into primary care, and the skills that primary care practitioners will need to provide advice. #### Summary points Primary care practitioners need to become genetically literate Currently the most important elements for primary care are prediction of risk of certain cancers and carrier screening for common autosomal recessive conditions such as cystic fibrosis Pharmacogenetics will become increasingly relevant in decisions around prescribing Integrating elements of genetic medicine into primary care will require the development of generic skills in genetic risk assessment and communication A multifaceted approach, including community genetic counsellors, primary care genetic specialists, educational programmes, and computerised decision support, is required to support the acquisition of genetic skills in primary care We searched Medline and Embase for relevant papers, combining terms relating to primary care and clinical genetics. We included papers identified from a previous systematic review of primary research on the role of family practice in genetics3 and relevant papers published subsequently. The papers were heterogeneous in their focus and methods, and, when appropriate, we state the evidence on which our statements are based. As more is learned about the genetic aspects of …