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Volumn 20, Issue 6, 1999, Pages 537-561

The concept of abnormality in medical genetics

Author keywords

Abnormality; Disease; Genetic disease; Genetic risk; Genetic screening; Genetic testing; Health; Medical genetics; Normality

Indexed keywords

BOOK; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HEALTH; HUMAN; MEDICAL GENETICS; MEDICAL LITERATURE; NOMENCLATURE; PHENOTYPE; REVIEW;

EID: 0033504350     PISSN: 13867415     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1009949222667     Document Type: Review
Times cited : (10)

References (61)
  • 1
    • 0002206125 scopus 로고
    • Master molecules
    • Cranor CF, ed. New Brunswick, New Jersey: Rutgers University Press
    • Fox-Keller E. Master molecules. In: Cranor CF, ed. Are Genes Us? The Social Consequences of the New Genetics, New Brunswick, New Jersey: Rutgers University Press, 1994: 89-98.
    • (1994) Are Genes Us? The Social Consequences of the New Genetics , pp. 89-98
    • Fox-Keller, E.1
  • 4
    • 0002522926 scopus 로고
    • Nature, nurture and the human genome project
    • Kevles DJ and Leroy Hood, eds. Cambridge Mass, and London: Harvard University Press (paper-back)
    • Fox-Keller E. Nature, nurture and the human genome project. In: Kevles DJ and Leroy Hood, eds. Scientific and Social Issues in the Human Genome Project. Cambridge Mass, and London: Harvard University Press (paper-back), 1993: 281-299.
    • (1993) Scientific and Social Issues in the Human Genome Project , pp. 281-299
    • Fox-Keller, E.1
  • 9
    • 0003628081 scopus 로고
    • London: Nuffield Council on Bioethics
    • Nuffield Council on Bioethics. Genetic Screening: Ethical Issues. London: Nuffield Council on Bioethics, 1993.
    • (1993) Genetic Screening: Ethical Issues
  • 11
    • 0020648765 scopus 로고
    • Community control of hereditary anaemias: Memorandum from a WHO meeting
    • World Health Organisation. Community control of hereditary anaemias: memorandum from a WHO meeting. In: Bulletin of the World Health Organisation 1983; 61: 63-80.
    • (1983) Bulletin of the World Health Organisation , vol.61 , pp. 63-80
  • 12
    • 0343093047 scopus 로고    scopus 로고
    • note
    • We have examined articles written in the period 1975-1995 and published in The New England Journal of Medicine and The Lancet.
  • 14
  • 15
    • 0343529014 scopus 로고    scopus 로고
    • Living with the future: Genetic information and human existence
    • Chadwick R, Levitt m, Shickle D, eds. Aldershot: Avebury
    • Ten Have, HAJM. Living with the future: genetic information and human existence. In: Chadwick R, Levitt m, Shickle D, eds. The Right to Know and the Right Not to Know. Aldershot: Avebury, 1997: 87-95.
    • (1997) The Right to Know and the Right Not to Know , pp. 87-95
    • Ten Have, H.A.J.M.1
  • 16
    • 0015357497 scopus 로고
    • The normal and the perils of the sylleptic argument
    • Murphy EA. The normal and the perils of the sylleptic argument. Perspectives in Biolology and Medicine, 1972; 15: 566-582.
    • (1972) Perspectives in Biolology and Medicine , vol.15 , pp. 566-582
    • Murphy, E.A.1
  • 17
    • 0000833948 scopus 로고
    • Biology and the problem of normality
    • Vacha J. Biology and the problem of normality. Scientia 1978; 113: 823-846.
    • (1978) Scientia , vol.113 , pp. 823-846
    • Vacha, J.1
  • 18
    • 0343529013 scopus 로고
    • Gezondheid in filosofisch perspectief
    • Ten Have HAJM. Gezondheid in filosofisch perspectief (Health from a philosophical perspective), Filosofie & Praktijk 1987; 8: 113-127.
    • (1987) Filosofie & Praktijk , vol.8 , pp. 113-127
    • Ten Have, H.A.J.M.1
  • 21
    • 0004509070 scopus 로고    scopus 로고
    • Genetic health and genetic disease
    • Launis V, Pietarinen J, Räikkä J, eds. Atlanta: Rodopi
    • See for further discussion of the concepts of health, disease and illness: Hoedemaekers R. and Ten Have HAJM. Genetic health and genetic disease. In: Launis V, Pietarinen J, Räikkä J, eds. Genes and morality: New Essays. Atlanta: Rodopi, 1999: 121-143 and: Hoedemaekers, R. Normative Determinants of Genetic Screening and Testing: An Examination of Values, Concepts and Processes influencing the Moral Debate (diss). Delft: Eburon P & L.
    • (1999) Genes and Morality: New Essays , pp. 121-143
    • Hoedemaekers, R.1    Ten Have, H.A.J.M.2
  • 23
    • 0006577726 scopus 로고
    • Introduction
    • Caplan AL, Engelhardt HT Jr, McCartney JJ, eds. Reading, Massachusetts: Addison-Wesley Publishing Company
    • Caplan AL. Introduction. In: Caplan AL, Engelhardt HT Jr, McCartney JJ, eds. Concepts of Health and Disease: Interdisciplinary Perspectives. Reading, Massachusetts: Addison-Wesley Publishing Company, 1981: xxiii-xxxi.
    • (1981) Concepts of Health and Disease: Interdisciplinary Perspectives
    • Caplan, A.L.1
  • 26
    • 84907924367 scopus 로고
    • Health as a theoretical concept
    • Boorse C. Health as a theoretical concept. Philosophy of Science 1977; 44: 542-573.
    • (1977) Philosophy of Science , vol.44 , pp. 542-573
    • Boorse, C.1
  • 27
    • 0343964800 scopus 로고
    • On the distinction between disease and illness
    • Beauchamp TL, Walters L, eds. Belmont, California: Wadsworth Publishing Company
    • Boorse C. On the distinction between disease and illness. In: Beauchamp TL, Walters L, eds. Contemporary Issues in Bioethics. Belmont, California: Wadsworth Publishing Company, 1982; 64-73.
    • (1982) Contemporary Issues in Bioethics , pp. 64-73
    • Boorse, C.1
  • 28
    • 85066561933 scopus 로고    scopus 로고
    • What is disease?
    • Caplan AL, Engelhardt HT Jr, McCartney, JJ, eds. n. 21
    • King LS. What is disease? In: Caplan AL, Engelhardt HT Jr, McCartney, JJ, eds. op. cit. (n. 21): 107-118. For further discussion of the distinctions between statistical abnormality, biological normality as deviation from species design and biological abnormality giving a selective (dis)advantage; see for example, Hoedemaekers R. Ten Have HAJM. Genetic health and genetic disease (see n. 21) and Wachbroit R. Normality as a biological concept. Philosophy of Science 1994; 61: 579-591.
    • Contemporary Issues in Bioethics , pp. 107-118
    • King, L.S.1
  • 29
    • 0002420766 scopus 로고
    • Normality as a biological concept
    • Genetic health and genetic disease (see n. 21)
    • King LS. What is disease? In: Caplan AL, Engelhardt HT Jr, McCartney, JJ, eds. op. cit. (n. 21): 107-118. For further discussion of the distinctions between statistical abnormality, biological normality as deviation from species design and biological abnormality giving a selective (dis)advantage; see for example, Hoedemaekers R. Ten Have HAJM. Genetic health and genetic disease (see n. 21) and Wachbroit R. Normality as a biological concept. Philosophy of Science 1994; 61: 579-591.
    • (1994) Philosophy of Science , vol.61 , pp. 579-591
    • Hoedemaekers, R.1    Ten Have, H.A.J.M.2    Wachbroit, R.3
  • 31
    • 0031498366 scopus 로고    scopus 로고
    • Deconstructing disease: An anatomy of illness in the age of molecular biology
    • Plotz PH. Deconstructing disease: an anatomy of illness in the age of molecular biology. Perspectives in Biology and Medicine 1997; 40: 160-164.
    • (1997) Perspectives in Biology and Medicine , vol.40 , pp. 160-164
    • Plotz, P.H.1
  • 32
    • 0343093044 scopus 로고    scopus 로고
    • What are genes for?
    • The precise role between genetic and environmental factors is still poorly understood and subject of an ongoing debate. See, for example: Editorial. What are genes for? Nature Genetics 1996; 14: 235-236, Judson, HF. The Eight day of Creation, Harmondsworth: Penguin books and Tauber AI, Sakar S, The human genome project: has blind reductionism gone too far? Perspectives in Biology and Medicine 1992; 35: 220-235.
    • (1996) Nature Genetics , vol.14 , pp. 235-236
  • 33
    • 0004097827 scopus 로고    scopus 로고
    • Harmondsworth: Penguin books
    • The precise role between genetic and environmental factors is still poorly understood and subject of an ongoing debate. See, for example: Editorial. What are genes for? Nature Genetics 1996; 14: 235-236, Judson, HF. The Eight day of Creation, Harmondsworth: Penguin books and Tauber AI, Sakar S, The human genome project: has blind reductionism gone too far? Perspectives in Biology and Medicine 1992; 35: 220-235.
    • The Eight Day of Creation
    • Judson, H.F.1
  • 34
    • 0026597241 scopus 로고
    • The human genome project: Has blind reductionism gone too far?
    • The precise role between genetic and environmental factors is still poorly understood and subject of an ongoing debate. See, for example: Editorial. What are genes for? Nature Genetics 1996; 14: 235-236, Judson, HF. The Eight day of Creation, Harmondsworth: Penguin books and Tauber AI, Sakar S, The human genome project: has blind reductionism gone too far? Perspectives in Biology and Medicine 1992; 35: 220-235.
    • (1992) Perspectives in Biology and Medicine , vol.35 , pp. 220-235
    • Tauber, A.I.1    Sakar, S.2
  • 35
    • 0027959589 scopus 로고
    • Distinguishing genetic disease and genetic susceptibility
    • Cf. Wachbroit RS, Distinguishing genetic disease and genetic susceptibility. American Journal of Medical Genetics 1994; 53: 236-240. Wachbroit does not clarify what criteria can be used to define an environment as normal or abnormal.
    • (1994) American Journal of Medical Genetics , vol.53 , pp. 236-240
    • Wachbroit, R.S.1
  • 36
    • 0343315603 scopus 로고    scopus 로고
    • Disease and mental disease
    • Caplan AL, Engelhardt HT Jr, and McCartney JJ, eds. n. 21
    • Flew A. Disease and mental disease. In: Caplan AL, Engelhardt HT Jr, and McCartney JJ, eds. op. cit. (n. 21): 433-442.
    • American Journal of Medical Genetics , pp. 433-442
    • Flew, A.1
  • 40
    • 0026241765 scopus 로고
    • Genetic harm: Bitten by the body that keeps you?
    • Kahn JP, Genetic harm: bitten by the body that keeps you? Bioethics 1991; 5: 289-308.
    • (1991) Bioethics , vol.5 , pp. 289-308
    • Kahn, J.P.1
  • 41
    • 0039888835 scopus 로고    scopus 로고
    • The need for a new medical model: A challenge for biomedicine
    • Caplan AL, Engelhardt HT Jr, McCartney JJ, eds. n. 21
    • Engel GL. The need for a new medical model: a challenge for biomedicine. In: Caplan AL, Engelhardt HT Jr, McCartney JJ, eds. op. cit. (n. 21): 589-607.
    • Bioethics , pp. 589-607
    • Engel, G.L.1
  • 43
    • 0039888835 scopus 로고    scopus 로고
    • The need for a new medical model for biomedicine
    • Caplan Al, Engelhardt HT Jr, McCartney JJ, eds. n. 21
    • Engel GL. The need for a new medical model for biomedicine. In: Caplan Al, Engelhardt HT Jr, McCartney JJ, eds. op. cit. (n. 21): 589-607.
    • Genetic Health and Genetic Disease , pp. 589-607
    • Engel, G.L.1
  • 44
    • 0027772434 scopus 로고
    • Health and adaptedness
    • Pörn I. Health and adaptedness, Theoretical Medicine 1993; 14: 295-303.
    • (1993) Theoretical Medicine , vol.14 , pp. 295-303
    • Pörn, I.1
  • 46
    • 0017148213 scopus 로고
    • A national genetic disease program: Some issues of implementation
    • Schmidt RM, Curran WJ. A national genetic disease program: some issues of implementation. New England Journal of Medicine 1976; 295: 819.
    • (1976) New England Journal of Medicine , vol.295 , pp. 819
    • Schmidt, R.M.1    Curran, W.J.2
  • 47
    • 0018342384 scopus 로고
    • Prenatal diagnosis in 3000 amniocenteses
    • Golbus MS, et al. Prenatal diagnosis in 3000 amniocenteses. New England Journal of Medicine, 1979; 300: 159.
    • (1979) New England Journal of Medicine , vol.300 , pp. 159
    • Golbus, M.S.1
  • 48
    • 0024502637 scopus 로고
    • Diagnosis of genetic disorders at the DNA level
    • Antonarakis SE. Diagnosis of genetic disorders at the DNA level. New England Journal of Medicine, 1989; 320: 154.
    • (1989) New England Journal of Medicine , vol.320 , pp. 154
    • Antonarakis, S.E.1
  • 49
    • 0026666024 scopus 로고
    • Prenatal diagnosis - When and how?
    • Editorial. Prenatal diagnosis - when and how? New England Journal of Medicine 1992; 327: 636.
    • (1992) New England Journal of Medicine , vol.327 , pp. 636
  • 50
    • 84919585741 scopus 로고
    • Directive counselling
    • Editorial. Directive counselling. Lancet 1982; vol ii: 368.
    • (1982) Lancet , vol.2 , pp. 368
  • 51
    • 0025219811 scopus 로고
    • Screening for cystic fibrosis: Use of ΔF508 mutation
    • Bowling FG, et al. Screening for cystic fibrosis: use of ΔF508 mutation (Letter), Lancet 1990; 335: 926.
    • (1990) Lancet , vol.335 , pp. 926
    • Bowling, F.G.1
  • 52
    • 0026638945 scopus 로고
    • Screening for cystic fibrosis
    • Editorial. Screening for cystic fibrosis. Lancet 1992; 340: 210.
    • (1992) Lancet , vol.340 , pp. 210
  • 53
    • 0022592088 scopus 로고
    • Ethical aspects of predictive testing
    • Uzych L. Ethical aspects of predictive testing (Letter), Lancet 1986; vol i: 1445-1446.
    • (1986) Lancet , vol.1 , pp. 1445-1446
    • Uzych, L.1
  • 55
    • 0342658761 scopus 로고    scopus 로고
    • note
    • Of course in non-genetic testing in clinical medicine the concept of abnormality is in common use, and this concept is used for deviations from the standard range linked with a slight probability, as well as with greater or absolute certainty that a specific condition will develop. It is also linked with serious as well as non-serious conditions. It should be pointed out, however, that in a patient-doctor relationship these deviations are usually further specified, for example as slightly elevated, slightly abnormal, highly elevated etc., and that further explanations are usually provided with regard to the probability that a specific condition will arise and whether it will be serious or not. Where the possibility of personal communication does not exist or where these explanations are not provided there is reason for more careful use of the concept of abnormality also in clinical medicine. In medical genetics there is even more reason for careful use of the concept of abnormality. Not only because the reference standard is often not clear, but also because its potential for raising anxiety in combination with the term genetic (with - for the layperson - its connotations of inevitability and predetermination) can create greater concern than is necessary. Careful use is especially indicated if test-results are not communicated personally and further counselling is not provided, as for example in written pre-test information or when test-results are provided in writing. Recent reports see this as a real possibility in the (near) future (e.g. Andrews LB et al, see n. 8).
  • 56
    • 0343093039 scopus 로고    scopus 로고
    • University Diagnostics Limited, London, U. K. Cystic Fibrosis. n.d.
    • University Diagnostics Limited, London, U. K. Cystic Fibrosis. n.d.
  • 57
    • 0002938532 scopus 로고    scopus 로고
    • Predictive screening and the concept of risk
    • Clarke A, ed. Oxford: Bios Scientific Publishers
    • Hoedemaekers R. Predictive screening and the concept of risk. In: Clarke A, ed. The Genetic Testing of Children, Oxford: Bios Scientific Publishers 1998: 245-264.
    • (1998) The Genetic Testing of Children , pp. 245-264
    • Hoedemaekers, R.1
  • 58
    • 0026496992 scopus 로고
    • Led (Astray) by genetic maps: The cartography of the human genome and health care
    • Lippman A. Led (Astray) by genetic maps: the cartography of the human genome and health care. Social Science and Medicine 1992; 35: 1469-1476.
    • (1992) Social Science and Medicine , vol.35 , pp. 1469-1476
    • Lippman, A.1
  • 59
    • 0012794236 scopus 로고
    • The Cyprus experience - Screening to combat a serious genetic disease
    • Strasbourg: Council of Europe Press
    • Hadjiminas M. The Cyprus experience - screening to combat a serious genetic disease. In: Ethics and Human Genetics. Proceedings: 2nd Symposium of the Council of Europe on Bioethics, Strasbourg: Council of Europe Press, 1995: 27-48; Hoedemaekers R. Ten Have HAJM. Geneticization: The Cyprus paradigm, The Journal of Medicine and Philosophy 1998; 23: 274-287
    • (1995) Ethics and Human Genetics. Proceedings: 2nd Symposium of the Council of Europe on Bioethics , pp. 27-48
    • Hadjiminas, M.1
  • 60
    • 0032086775 scopus 로고    scopus 로고
    • Geneticization: The Cyprus paradigm
    • Hadjiminas M. The Cyprus experience - screening to combat a serious genetic disease. In: Ethics and Human Genetics. Proceedings: 2nd Symposium of the Council of Europe on Bioethics, Strasbourg: Council of Europe Press, 1995: 27- 48; Hoedemaekers R. Ten Have HAJM. Geneticization: The Cyprus paradigm, The Journal of Medicine and Philosophy 1998; 23: 274-287
    • (1998) The Journal of Medicine and Philosophy , vol.23 , pp. 274-287
    • Hoedemaekers, R.1    Ten Have, H.A.J.M.2
  • 61
    • 0343964796 scopus 로고    scopus 로고
    • Cystic Fibrosis Trust, Bromley, Kent, UK, n.d.
    • Cystic Fibrosis Trust, Bromley, Kent, UK, n.d.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.