Box 2.

Categories of genetic medicine relevant in primary care

• Reproductive risk—for example, haemoglobinopathies, cystic fibrosis, muscular dystrophies, and many rarer autosomal recessive conditions; chromosomal disorders (such as Down's syndrome and Edwards's syndrome)
• Adult onset genetic disorders with a mendelian inheritance pattern—for example, Huntington's disease, subsets of common diseases such as familial cancers (BRCA1, BRCA2), maturity onset diabetes of the young (MODY)
• Common diseases with a multifactorial aetiology—for example, ischaemic heart disease, asthma, diabetes
• Normal genetic variations in drug metabolism and immune response