Open AccessPatients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing
Author(s) -
Wagner Karin N.,
Nagaraja Haikady N.,
Allain Dawn C.,
Quick Adam,
Kolb Stephen J.,
Roggenbuck Jennifer
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.360
Subject(s) - amyotrophic lateral sclerosis , genetic testing , genetic counseling , medicine , disease , test (biology) , family medicine , physical therapy , genetics , biology , paleontology
Background Amyotrophic lateral sclerosis ( ALS ) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. Methods We conducted a survey to study patient access, attitudes, and experience with ALS genetic testing among patients enrolled in a US ALS registry. Results Among 449 survey respondents, 156 (34.7%) were offered testing and 105 of 156 (67.3%) completed testing. The majority of respondents with familial ALS ( fALS ) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS ( sALS ) (111/404, 27.5%) were offered testing ( p = .00001). Comparison of mean test experience scores between groups revealed that respondents with fALS were no more likely to report a favorable experience with genetic testing than those with sALS ( p = .51). Respondents who saw a genetic counselor did not have significantly different test experience scores, compared to those who did not ( p = .14). In addition, no differences in test experience scores were observed between those who received positive or negative genetic test results ( p = .98). Conclusion These data indicate that patients with ALS found value in clinical genetic testing.