(Investigators' Abstract): The Human Genome Initiative will greatly increase our knowledge of the role genetic factors play in the causation of disease. As we learn more and more about the genetic component (or genetic causal factors) for various diseases, there will in many cases be a shift to explaining diseases in terms of genetic factors. One of the features of this explanatory shift will be a corresponding reassessment of what constitutes normality or health. For example, as we learn more about the genetic components to heart disease, we may come increasingly to explain why someone has suffered a myocardial infarction in terms of his genetic constitution rather than in terms of his lifestyle or diet. And the conception of a person with a normal or healthy heart might correspondingly shift from one characterized in terms of lifestyle or diet to one characterized in terms of genetics. The first part of the proposed project is to trace the conceptual connections underlying these shifts and to assess their justification. When is it appropriate to cite a genetic factor not only as a cause of a disease but also as an explanation? The second part of the project is to examine some of the ethical and policy consequences of these shifts.For example, the shift that leads to seeing a myocardial infarction as a result of a genetic condition can lead to seeing the problem as a family problem rather than an individual problem. This shift suggests an alternative approach to understanding the duty of confidentiality in such cases, which needs to be evaluated and compared against more traditional approaches. More specifically, the project team will:1) examine the impact of the new genetic information on commonly held views about health, normality, disease causation, and explanation; 2) articulate assumptions in medical genetics about disease causation, explanation, and normality, especially in diagnoses of genetic susceptibility, and compare them with the assumptions about causation and normality embodied in legal theory, case law, and statutes; 3) analyze the legal and practical consequences associated with greater awareness of genetic susceptibilities, assess the related policy options, and formulate model legislation; and 4) examine the impact of changes in medical diagnoses and medical explanation arising from the Human Genome Initiative on the traditional conception of confidentiality. The methods for achieving this project's aims are chiefly those of philosophy and law informed by medical genetics.The project team will consist of philosophers and legal scholars working together in close collaboration with medical geneticists.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Research Project (R01)
Project #
Application #
Study Section
Genome Study Section (GNM)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Maryland College Park
Other Domestic Higher Education
College Park
United States
Zip Code
Hoffmann, D E; Wulfsberg, E A (1995) Testing children for genetic predispositions: is it in their best interest? J Law Med Ethics 23:331-44
Wulfsberg, E A; Hoffmann, D E; Cohen, M M (1994) Alpha 1-antitrypsin deficiency. Impact of genetic discovery on medicine and society. JAMA 271:217-22
Wachbroit, R S (1994) Distinguishing genetic disease and genetic susceptibility. Am J Med Genet 53:236-40