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. 2018 Mar;6(2):224-229.
doi: 10.1002/mgg3.360. Epub 2017 Dec 20.

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

Karin N Wagner  1 , Haikady N Nagaraja  2 , Dawn C Allain  1   3 , Adam Quick  4 , Stephen J Kolb  4   5 , Jennifer Roggenbuck  3   4
Affiliations

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing

Karin N Wagner et al. Mol Genet Genomic Med. 2018 Mar.

Abstract

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.

Keywords: access to care; amyotrophic lateral sclerosis genetics; genetic counseling; genetic testing; patient attitudes.

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