Hereditary polyposis coli. II. Genetic counseling. 1979

D A Murphy

The problems of genetic counseling in hereditary polyposis coli (HPC)(taken as the type of the age-dependent dominant mendelian trait) are discussed in some detail. They are threefold: first to formalize, for purposes of decision, the total penalty (the "fardel") typically imposed by the disorder for each case, and how it may be modified by treatment; second, to determine the logical issues involved in making probability statements in the face of the uniqueness of each case; third, to use to best advantage the information on the pattern of onset to assess the probability that a person, at risk but not so far affected, does in fact harbor the gene. The third problem points up the need for a formal model of the pathogenesis and its implications for the pattern of onset and the sensitivity of the assessment to the assumptions of the model, especially where one has to rely on cross-sectional, as distinct from longitudinal, data.

UI MeSH Term Description Entries
D007417 Intestinal Polyps Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. Intestinal Polyp,Polyp, Intestinal,Polyps, Intestinal
D008433 Mathematics The deductive study of shape, quantity, and dependence. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed) Mathematic
D008962 Models, Theoretical Theoretical representations that simulate the behavior or activity of systems, processes, or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. Experimental Model,Experimental Models,Mathematical Model,Model, Experimental,Models (Theoretical),Models, Experimental,Models, Theoretic,Theoretical Study,Mathematical Models,Model (Theoretical),Model, Mathematical,Model, Theoretical,Models, Mathematical,Studies, Theoretical,Study, Theoretical,Theoretical Model,Theoretical Models,Theoretical Studies
D011336 Probability The study of chance processes or the relative frequency characterizing a chance process. Probabilities
D003110 Colonic Neoplasms Tumors or cancer of the COLON. Cancer of Colon,Colon Adenocarcinoma,Colon Cancer,Cancer of the Colon,Colon Neoplasms,Colonic Cancer,Neoplasms, Colonic,Adenocarcinoma, Colon,Adenocarcinomas, Colon,Cancer, Colon,Cancer, Colonic,Cancers, Colon,Cancers, Colonic,Colon Adenocarcinomas,Colon Cancers,Colon Neoplasm,Colonic Cancers,Colonic Neoplasm,Neoplasm, Colon,Neoplasm, Colonic,Neoplasms, Colon
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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