The Jaina Doctrine of Karma And The Science Of Genetics: Early Dignosis And Treatment - Recognizing Preclinical Cases

We have today a pretty long list of screening tests for the early diagnosis of hereditary diseases. For example, heterogygotes of phenylketonuria can be detected by a phenylalanine tolerance test. A simple urine examination for sugar after morning breakfast is good enough to detect diabetics. Examination of sibs and close relatives of diabetics by a glucose tolerance test will often reveal preclinical case of acholuric jaundice. A raised serum uric acid should arouse suspicion of gout. Sickle cell trait can be uncovered by subjecting the red cells to reduce oxygen tension. Thalassaemia minor can be detected by studying the blood picture.

Genetic counseling can have the greatest impact when individuals or couples at genetic risk are identified prospectively i.e. before they have developed symptoms themselves or produced their first affected child. Prospective counseling is technically possible only when carriers can be accurately identified. To some extent, the established genetic population screening services may serve as models for the development of future genetic screening programmes.^[52]

Once diagnosed some of the genetic conditions can be treated with complete or partial success by medical and surgical measures. For example, diets low in phenylalanine are now prescribed as treatment for PKU children. Persons suffering from haemophilia can be greatly helped by administering antihaemolytic globulin, which promotes the clotting of blood, modern surgical techniques have brought great improvements in dealing with cases of spina bifida.