title: Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.
abstract: Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing. The survey had an 8 % response rate, with 449 completed responses. Genetic testing was offered to 33.4 % and completed by 67.1 % of those offered. A minority of respondents (12.5 %) saw a genetic counselor, and were much more likely to be offered genetic testing (p = 0.0001). Respondents with a family history of ALS (8.4 %) were more likely to be offered testing (p = 0.0001) and complete testing (p = 0.05). Respondents with a family history of ALS were more likely to report a favorable attitude towards genetic testing (p = 0.0003), as were respondents who saw a genetic counselor (p = 0.02). The majority of respondents (82.7 %) felt that genetic testing should be offered to all patients with ALS. Our results indicate that ALS patients may have limited access to genetic testing, but perceive benefit from this service. Development of practice guidelines for genetic testing in ALS, to include the routine offer of genetic counseling, may result in broader and more consistent access to these services.
authors.affiliation: Genetic Counseling Graduate Program, The Ohio State University, Columbus, OH, USA.
authors.forename: Karin N
authors.initials: KN
authors.lastname: Wagner
authors.affiliation: Division of Biostatistics, The Ohio State University, Columbus, OH, USA.
authors.forename: Haikady
authors.initials: H
authors.lastname: Nagaraja
authors.affiliation: Genetic Counseling Graduate Program, The Ohio State University, Columbus, OH, USA.|Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
authors.forename: Dawn C
authors.initials: DC
authors.lastname: Allain
authors.affiliation: Department of Neurology, The Ohio State University, Columbus, OH, USA.
authors.forename: Adam
authors.initials: A
authors.lastname: Quick
authors.affiliation: Department of Neurology, The Ohio State University, Columbus, OH, USA.|Department of Biological Chemistry and Pharmacy, The Ohio State University, Columbus, OH, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Kolb
authors.affiliation: Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA. jennifer.roggenbuck@osumc.edu.|Department of Neurology, The Ohio State University, Columbus, OH, USA. jennifer.roggenbuck@osumc.edu.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Roggenbuck
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care
keywords: ALS genetics; Access to care; Amyotrophic lateral sclerosis; Genetic counseling; Genetic testing