PEDIATRICS Vol. 53 No. 2 February 1974, pp. 182-188
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The Philosophy and Practice of Screening For Inherited Diseases

G. M. Komrower T.D., M.B., F.R.C.P.1

1 Physician, Royal Manchester Children's Hospital, Pendlebury, Manchester Consultant Paediatrician, St. Mary's Hospital, Manchester Director, Willink Biochemical Genetics Laboratory, Royal Manchester Children's Hospital, Manchester, England

In recent years there has been a decline both in morbidity and mortality attributable to infection, parasitic infestation, and malnutrition which has been coincidental with the development of promising approaches to the diagnosis, treatment, and prevention of genetic diseases. This has encouraged the consideration of genetically oriented screening programs as an exercise in preventive medicine, and considerable thought and effort have been expended in the development of suitable programs covering many inherited disorders, particularly those relating to mental retardation.

The World Health Organization in a recent publication, "Genetic Disorders—Prevention, Treatment and Rehabilitation,"has stated that the object of these endeavors is to improve the quality of life for individuals and society as a whole by permitting the control of disease in affected persons.

When one comes to plan a screening program it is important to keep the following criteria in mind. The incidence of the disorder(s) in question should be reasonably high. The program must be administratively feasible; the laboratory procedures used must be technically reliable with a very low (to absent) incidence of false-positive or negative results. (Better to have a false-positive than a false-negative.) The methods must be relatively unsophisticated and the cost of the whole scheme must not be great as there is little money available for this type of medical practice. Finally and most important, treatment must be available for the children detected. The family concerned should be given full guidance and encouragement and genetic counseling services should be available to them.




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[Abstract] [PDF]