ABSTRACT

Department of Internal Medicine, Division of Molecular Medicine and Genetics, and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, U.S.A.

This chapter will discuss ethical dilemmas that arise from neurogenetic conditions and genetic testing for these conditions, with a focus on Huntington disease, as it has been a paradigm for such issues. The guidelines for predictive genetic testing for Huntington disease, initially published in 1989 (1-3) and revised in 1994 (4-6) after the cloning of the HD gene, set the global standard for this type of testing. These guidelines set a high bar for patient autonomy in testing decisions and in the comprehensiveness of information provided prior to testing. In recent years, these guidelines have served as a template for predictive testing for other neurogenetic conditions and hereditary cancers (7,8).