Psychological consequences of genetic testing for spinocerebellar ataxia in the Japanese

Abstract

To evaluate the psychological consequences of genetic testing for spinocerebellar ataxia (SCA), state and trait anxiety inventories (SAI and TAI) and social desirability scale (SDS) were assessed and analyzed in patients and their family members diagnosed with spinocerebellar ataxias such as spinocerebellar ataxia type 1 and Machado—Joseph disease (MJD). The results obtained prior to and after the genetic testing were compared to a control group that included more severe hereditary neurological disorders such as Huntington's disease and familial amyotrophic lateral sclerosis. Genetic counseling was undertaken during the study. Of the 62 total participants, 37 were diagnosed with SCA, and 25 as asymptomatic family members. The SCA patients had higher baseline SAI, TAI and SDS scores than their asymptomatic family members. Genetic testing did not significantly increase the scores for all the patients and their asymptomatic family members, whereas the SAI value was greatly reduced in those subjects who received negative results and were not carriers of the defective gene. Similar results were obtained even in the control group with more severe diseases except for a reduction of SAI values in the patients. Patients, their SCA asymptomatic family members, and the disease control generally had some apprehension for the testing, but, at the same time, were not so anxious if remedial or curative therapy was available. Furthermore, most participants in this study showed a high degree of acceptance and did not express much regret in undergoing the genetic testing regardless of having the disease or finding out the results of the predictive testing. These results suggest that the psychological health of the asymptomatic family members with negative results for SCA gene abnormality recovered after genetic testing, and genetic testing was not disadvantageous for the psychological well-being of the patients and even for those with positive predictive results.