Abstract
Service programmes formulated under the discipline of medical genetics are designed to reduce the burden of genetic disease among individuals in the community. In this discussion we define, in general terms, the amount and nature of genetic disease in man; then in detail the structures which appear best to serve the processes of patient intake through genetic screening or medical referral; and the processes of diagnosis, counselling and treatment which follow in the application of knowledge to patients with genetic disease.1 We conclude with comments on an existing programme, the Quebec Network of Genetic Medicine, which articulates all of these principles; their application at the national level is occurring through the accreditation of genetic centres under the newly established Canadian College of Medical Genetics.
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References
Clow, C. L., Fräser, F. C., Laberge, C. and Scriver, C. R. (1973). On the application of knowledge to the patient with genetic disease. In A. C. Steinberg and A. G. Beam (eds.), Progress in Medical Genetics, Vol. 9, p. 159. ( New York: Grune and Stratton )
McKusick, V. A. (1975). Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. Mendelian Inheritance in Man, 4th ed. ( Baltimore: Johns Hopkins Press )
Carr, D. M. (1971). Genetic basis of abortion. Ann. Rev. Genet. 5, 65
Poland, J. B. and Lowry, R. B. (1974). The use of spontaneous abortuses and still births in genetic counselling. Am. J. Obstet Gynecol., 118, 322
Trimble, B. K. and Doughty, J. H. (1974). The amount of hereditary disease in human population. Ann. Hum. Genet. ( London ), 38, 199
World Health Organization. (1972). Genetic Disorders: Prevention, Treatment and Rehabilitation, ( Geneva: WHO Tech. Rep. Ser. No. 497 )
Childs, B., Miller, S. M. and Bearn, A. G. (1972). Gene mutation as a cause of human disease. In H. E. Sutton and M. I. Harris (eds.), Mutagenic Effects of Environmental Contamination, p. 3. ( New York: Academic Press )
Scriver, C. R., Neal, J. L., Saginur, R. and Clow, A. (1973). The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can. Med. Ass. J., 108, 1111
Day, N. and Holmes, L. B. (1973). The incidence of genetic disease in a University Hospital population. Am. J. Hum. Genet., 25, 237
Reich, E., Wallace, S., Ben-Yishay, M., Schlesinger, S., Marks, J. and Bloom, A. D. Genetic Disease in a Pediatric Hospital. (In press)
Carter, C. O. (1956). Changing patterns in the causes of death at the Hospital for Sick Children. Great Ormond Street J., No. 11, 65
Roberts, D. F., Chavez, J. and Court, S. D. M. (1970). The genetic component in child mortality. Arch. Dis. Child., 45, 33
Motulsky, A. G. and Boman, H. (1974). Genetics and atherosclerosis. In G. Scheuer (e. g., Proc. 3rd Int. Symposium on Atherosclerosis, Oct. 1973 ( Berlin: Springer-Verlag )
Dumond, D. E. (1975). The limitation of human population: a natural history. Science, 187, 713
Scriver, C. R. (1972). Screening and treatment of hereditary (metabolic) disease. In Human Genetics Symposium, Proc. IV International, Cong. Human Genetics, p. 10. ( Paris: Excerpta Medica Found )
Westwood, A. and Ralne, D. N. (1973). Some problems of heterozygote recognition in inherited metabolic disease with special reference to phenylketonuria. In J. W. T. Seakins, R. A. Saunders and C. Toothill (eds.), Treatment of Inborn Errors of Metabolism. SSIEM Sympos. No. 10, p. 63. ( London: Churchill Livingstone )
Murphy, E. A. and Chase, G. A. (1975). Principles of genetic counseling. ( Chicago; Year Book Medical Pub. )
Harris, H. (1968). Molecular basis of hereditary disease. Br. Med. J., ii, 135
Harris, H. and Hopkinson, D. A. (1972). Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphism. Ann. Hum. Genet., 36, 9
Goldstein, J. L., Hazzard, W. R., Schrott, H. G., Bierman, E. L. and Motulsky, A. G. (1973). Hyperlipidaemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. J. Clin. Invest,. 52, 1533
Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L. and Motulsky, A. G. (1973). Hyperlipidaemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hvperlipidemia. J. Clin. Invest., 52, 1544
Hazzard, W. R., Goldstein, J. L., Schrott, H. G., Motulsky, A. G. and Bierman, E. L. (1973). Hyperlipidaemia in coronary heart disease. III. Evaluation of lipoprotein phenotypes in 156 genetically defined survivors of myocardial infarction. J. Clin. Invest., 52, 1569
Levy, R. I., Morganroth, J. and Rifkin, B. M. (1974). Drug therapy. Treatment of hvperlipidemia. N. Engl. J. Med., 290, 1295
National Academy of Sciences. (1975). Genetic Screening. Programs, Principles and Research. Washington, D. C.
North, A. F. Jr. (1975). Personal communication
Wilson, J. M. G. and Jungner, G. (1968). Principles and Practice of Screening for Disease. ( Geneva: WHO Public Health Papers No. 34 )
Whitby, L. G. (1974). Screening for disease. Definitions and criteria. Lancet, ii, 819
Sackett, D. L. and Holland, W. W. (1975). Controversy in the detection of disease. Lancet, ii, 357
Scriver, C. R. (1965). Screening newborns for hereditary metabolic disease. Pediatr. Clin. North Am., 12, 807
World Health Organization. (1967). Standardization of Procedures for the study of Glucose-6-phosphate Dehydrogenase. ( Geneva: WHO Tech. Rep. Ser. 366 )
World Health Organization. (1968). Screening for Inborn Errors of Metabolism, ( Geneva,: WHO Tech. Rep. Ser. 401 )
Hecht, F. and Lovrien, E. W. (1970). Genetic diagnosis in the newborn. A part of preventive medicine. Pediatr. Clin. North Am., 17, 1039
World Health Organization. (1966). Haemoglobinopathies and Allied Disorders. ( Geneva: WHO Tech. Rep. Ser. 338 )
Gold, R. J. M., Maag, U. R., Neal, J. L. and Scriver, C. R. (1974). The use of biochemical data in screening for mutant alleles and in genetic counseling. Ann. Hum. Genet., 37, 315
Kirkman, H. N. (1972). Enzyme defects. In A. G. Steinberg and A. G. Beam (eds.), Progress in Medical Genetics, Vol. 8, p. 125. ( New York: Grune and Stratton )
Guthrie, R. and Susi, A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics., 32, 338
McCaman, M. W. and Robins, E. (1962). Fluorimetric method for the determination of phenylalanine in serum. J. Lab. Clin. Med., 59, 885
Hill, J. B., Summer, G. K., Pender, M. W. and Roszel, N. O. (1965). An automated procedure for blood phenylalanine. Clin. Chem., 11, 541
Murphy, E. A. and Mutalik, G. S. (1969). The application of Bayesian methods in genetic counseling. Hum. Her ed., 19, 126
Rosenblatt, D. and Scriver, C. R. (1968). Heterogeneity in genetic control of phenylalanine metabolism in man. Nature (London), 218, 677
Delvin, E., Pottier, A., Scriver, C. R. and Gold, R. J. M. (1974). The application of an automated hexosaminidase assay to genetic screening. Clin. Chim. Acta, 53, 135
Starfield, B. and Holtzman, N. A. (1975). A comparison of effectiveness of screening for phenylketonuria in the United States, United Kingdom and Ireland. N. Engl. J. Med., 293, 118
Childs, B. and der Kaloustian, M. (1968). Genetic heterogeneity. N. Engl. J. Med., 279, 1205 and 1267
McKusick, V. A. (1971). The nosology of genetic disease. Hosp. Prac., 6, 93
Bartholome, K. (1974). A new molecular defect in phenylketonuria. Lancet, 11, 1580
Smith, I., Clayton, B. E. and Wolff, O. H. (1975). New variant of phenyl-ketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet, i, 1108
Kaufman, S., Holtzman, N. A., Milstien, S., Butler, I. J. and Krumholz, A. (1975). Phenylketonuria due to deficiency of dihydropteridine reductase. N. Engl. J. Med. 293, 785
Murphy, E. A. (1968). The rationale of genetic counseling. J. Pediatrics, 72, 121
Fraser, F. C. (1971). Genetic counseling. Hosp. Pract6, 49
Leonard, C. O., Chase, G. A. and Childs, B. (1972). Genetic counseling: A consumer’s view. N. Engl. J. Med., 287, 433
Kaback, M. M., Becker, M. H. and Ruth, M. V. (1974). Sociologie studies in human genetics. 1. Compliance factors in a voluntary heterozygote screening program. Birth Defects Orig. Article Series. (Natl Foundation), Vol. X, No. 6, p. 163.
Beck, E., Blaichman, S., Scriver, C. R. and Clow, C. L. (1974). Advocacy and compliance in genetic screening. Behaviour of physicians and clients in a voluntary Tay-Sachs testing program. N. Engl. J. Med., 291, 1166
Clow, C., Reade, T. and Scriver, C. R. (1971). Management of hereditary metabolic disease. The role of allied health personnel. N. Engl. J. Med., 284, 1292
Raine, D. N. (1974). Screening for disease: Inherited metabolic disease. Lancet, ii, 996
Grenier, A. and Laberge, C. (1974). Depistage des maladies metaboliques hereditaires au Quebec. Union Med. Can., 103, 453
Clow, C. L., Scriver, C. R. and Davies, E. (1969). Results of mass screening for hyperaminoacidemias in the newborn infant. Am. J. Dis. Child., 117, 48
Laberge, C. (1969). Hereditary tyrosinemia in a French Canadian isolate. Am. J. Hum. Genet. 21, 36
Goldman, H. (1972). The repository for mutant human cell strains. In L. Dallaire (ed.), Med. Res. Council (Can.) Prenatal Diagnosis Newsletter, Vol. 1, No. 2, p. 6
Dussault, J. H., Coulombe, P., Laberge, C., Letarte, J., Guyda, H. and Khoury K. (1975). Preliminary report on a mass screening program for neonatal hypothyroidism. J. Pediatr., 86, 670
Clow, C. L., Ishmael, H., Scriver, C. R., Murray, K., Campeau, H., Long, D. and Steinberg, H. A. (1975). The national food distribution centre for management of patients with hereditary metabolic disease. Bull. Genet. Soc. Can., 6, 29
Miller, J. R. (1975). Canadian College of Medical Genetics. Can. Med. Ass. J., II3, 357
Holtzman, N. A., Meek, A. G. and Mellits, E. D. (1974). Neonatal screening for phenylketonuria. IV. Factors influencing the occurrence of false positives. Am. J. Pub. Health, 64, 775
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Scriver, C.R., Laberge, C., Clow, C.L. (1977). Genetic screening and allied services: structure, process and objective. In: Raine, D.N. (eds) Medico-Social Management of Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-6173-2_2
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DOI: https://doi.org/10.1007/978-94-011-6173-2_2
Publisher Name: Springer, Dordrecht
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