The prevention and avoidance of genetic disease: summing up.
The preceding papers have dealt with major advances in understanding and detecting the mutational basis of human disease. If these advances are to be of practical benefit, systems of effective, efficient and acceptable delivery of the technology to the relevant population groups will need to be planned. In these delivery systems, the key figure is likely to be the clinical geneticist, still a somewhat shadowy figure, difficult to define: a doctor among scientists, and a scientist among doctors. The clinical geneticist, among other duties, acts as a user-friendly interface between the public (including the medical profession) and the conceptually quite difficult fields of modern genetics. Few people in this age of transition to computer literacy will underestimate the importance of a user-friendly interface, without which even the most powerful analytical machines are underused, error prone, or even incomprehensible.
D005260:Female; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis