Genetic testing in Huntington disease, an inherited ultimately fatal neurodegenerative disorder, is infrequent despite wide availability. Factors influencing the decision to pursue testing are largely unknown. We conducted a prospective longitudinal observational study of 1,001 individuals in North America who were at risk for Huntington disease who had not pursued genetic testing prior to enrollment. We evaluated the rationale for remaining untested at baseline, determined the concerns of those who eventually pursued testing, and assessed the population's psychological attributes. We contrasted responses between those who did and did not pursue testing, and between United States and Canadian residents. The principal reasons for remaining untested were comfort with risk and uncertainty and the inability to "undo" knowledge gained. After enrollment, 83 individuals [8.3%] pursued genetic testing. Their greatest concern was losing health insurance, and 41.6% of them [vs. 6.7% of those who did not pursue testing; P < 0.001] reported paying out of pocket for testing or other medical services to conceal their genetic risk from their insurer/employer. Among individuals who were tested, more United States residents [46.1%] than Canadian residents [0.0%; P = 0.02] paid out of pocket for health services or genetic testing. Psychological attributes were similar among individuals who did and did not pursue testing. Individuals at risk for Huntington disease who pursued genetic testing feared losing medical insurance, and many paid out of pocket for medical services. Alleviating the fear of health insurance loss may help those who want to pursue genetic testing for many other conditions. [ClinicalTrials.gov number, NCT0052143].
Trial registration: ClinicalTrials.gov NCT00052143 NCT00052143.
Copyright 2008 Wiley-Liss, Inc.