Amount of Hereditary Disease

Without adequate knowledge of the numbers of cases of hereditary diseases that occur in the population, it would be difficult indeed to estimate the likely consequences of a given increase in the mutation rate. And to actually detect an increase in mutation rate in man, knowledge of the numbers and kinds of such diseases will have to be exceedingly precise and complete. However, despite widespread interest in the diverse forms of hereditary disease, only limited interest has been shown in determining their frequencies and measuring their combined impact on human health. 

The approach has been used to determine the numbers of children in Nova Scotia suffering from hereditary and congenital defects, as represented by the records of hospitalization and deaths in the first year of life, and their appearance in a provincial register of handicapped children. About 48 children per 1000 liveborn were found by this means to be affected by conditions which may be regarded as hereditary, congenital, or both, and which are detectable early in life. 21-22) 

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B. K. Trimble and J. H. Doughty, The amount of hereditary disease in human populations, Ann. Human Genet. London) 38, 199-233 (1974). 

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