Summary
The case for or against mass screening for inherited diseases is discussed. There is universal acceptance for mass screening for phenylketonuria and congenital hypothyroidism. The case for mass screening for galactosaemia and for maple syrup urine disease is not very strong; they could be considered under the heading of ‘urgent screening of the sick newborn’. It is difficult to find good arguments for mass screening for congenital adrenal hyperplasia. For screening for glucose-6-phosphate dehydrogenase deficiency and sickle cell disease, the established criteria for mass screening do not apply. A simple tool for early detection is now available and the population afflicted with a mutant gene which causes major health problems should receive special attention from its government. It is too early to offer any comment about cystic fibrosis screening; further developments must be awaited.
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References
Amador, P. S. and Carter, T. P. Historical review of newborn screening in New York State: Twenty years experience. In Carter, T. P. and Wiley, A. M. (Eds.), Genetic Disease: Screening and Management, Alan R. Liss, Inc., New York, 1986, 343–357
American Academy of Pedriatics, Committee on Genetics. New issues in newborn screening for phenylketonuria and congenital hypothyroidism. Pediatrics 69 (1982) 104–106
Cunningham, G. C., Kan, K. and Mordaunt, V. L. Phenylalanine level of newborns in their first few days of life. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 179–181
Faden, R. R., Chevalow, A. J., Holtzman, N. A. and Horn, S. D. A survey to evaluate parental consent as public policy for neonatal screening. Am. J. Public Health 72 (1982) 1347–1352
Guthrie, R. Lawsuits involving missed cases of PKU: lessons learned. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 585–587
Guthrie, R., Bloom, S., Murphey, W. and Susi, A. A comparison of three newborn screening tests for galactosaemia. In Naruse, H. and Irie, M. (Eds.), Neonatal Screening, Excerpta Medica, Amsterdam, 1983, 243–251
H. M. (69) 72. National Health Service. Screening for early detection of phenylketonuria, Department of Health and Social Security, London, 1969
Holtzman, C., Slazyk, W. E., Cordero, J. F. and Hannon, W. H. Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78 (1986) 553–558
Holtzman, N. A. Genetic screening: criteria and evaluation–a message for the future. In Carter, T. P. and Willey, A. M. (Eds.), Genetic Disease: screening and management, Alan R. Liss, Inc., New York, 1986, 3–18
Kawamura, M. Neonatal screening for galactosaemia in Japan. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 227–230
Komrower, G. M., The Philosophy and practice of screening for inherited diseases. Paediatrics 53 (1974) 182–188
Komrower, G. M., Sardharwalla, I. B., Fowler, B. and Bridge, C., The Manchester regional screening programme: a 10-year exercise in patient and family care. Br. Med. J. 2 (1979) 635–638
Missiou-Tsagarakis, S. Greek neonatal screening program for glucose-6-phosphate dehydrogenase deficiency. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 425–428
Ng, W. G., Kawamura, M. and Donnell, G. N. Galactosaemia screening: methodology and outcome from worldwide data collection. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 243–249
Pang, S., Wallace, M. A., Hofman, L., Thuline, H. C., Dorche, C., Lyon, I. C. T., Dobbins, R. H., Kling, S., Fujieda, K. and Suwa, S. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81 (1988) 866–874
Pass, K. A. Newborn screening for sickle cell disease in New York. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam (1987) 409–414
Rogers, D. W., Clarke, J. M. and Cupidore, L. Early deaths in Jamaican children with sickle cell disease. Br. Med. J. (1978) 1515–1517
Sardharwalla, I. B. and Wraith, J. E. Galactosaemia. Nutr. Health 5 (1987) 175–188
Scriver, C. R. Screening for medical intervention: The PKU experience. In Bonne-Tamir, B. and Cohen, T. (eds.) Human Genetics, Part B; Medical Aspects, Alan R. Liss, Inc., New York, 1982, 437–445
Starfield, B. and Holtzman, N. A. A comparison of effectiveness of screening for phenylketonuria in the United States, United Kingdom and Ireland. N. Engl. J. Med., 293 (1975) 118–121
Warren, N. S., Carter, T. P., Humbert, Jr. and Rowley, P. T. Newborn screening for hemoglobinopathies in New York State: experience of physicians and parents of affected children. J. Pediatr. 100 (1982) 373
Wethers, D. L. and Grover, R. Screening the newborn for sickle cell disease: is it worth the effort? In Carter T. and Willey, A. M. (Eds.) Genetic Disease: Screening and Management, Alan R. Liss, Inc., New York, 1986, 123–136
Wilcken, B. and Brown, A. R. D. Screening for cystic fibrosis in New South Wales, Australia: evaluation of the results of screening 400000 babies. In Therrell, Jr. B. L. (Ed.), Advances in Neonatal Screening, Elsevier Science Publishers, Amsterdam, 1987, 385–390
Wilcken, B. and Chalmers, G. Reduced morbidity in patients with cystic fibrosis detected by newborn screening. Lancet 2 (1985) 1319–1321
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Sardharwalla, I.B., Wraith, J.E. (1989). A Clinician’s View of the Mass Screening of the Newborn for Inherited Diseases: Current Practice and Future Considerations. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_6
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DOI: https://doi.org/10.1007/978-94-009-1069-0_6
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