The use of DNA probes within or near disease genes is becoming increasingly important in clinical medicine. Probes are available for prenatal and carrier diagnosis for several of the more than 100 genetic diseases of the gastrointestinal tract and liver. These include familial adenomatous polyposis, haemochromatosis, cystic fibrosis, alpha 1-antitrypsin deficiency and the hereditary porphyrias. This review uses examples drawn from such diseases to show the relevance of these approaches to the clinician.