Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing
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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.
KeywordsAmyotrophic lateral sclerosis Genetic testing ALS genetics Access to care Genetic counseling
Compliance with Ethical Standards
Funding for this project was provided by the National Society of Genetic Counselors Neurogenetics Special Interest Group.
Conflict of Interest
Authors Wagner, Nagaraja, Allain, Quick, Kolb and Roggenbuck declare they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
- Chiò, A., Battistini, S., Calvo, A., Caponnetto, C., Conforti, F. L., Corbo, M., Giannini, F., Mandrioli, J., Mora, G., Sabatelli, M., Consortium, I. T. A. L. S. G. E. N., Ajmone, C., Mastro, E., Pain, D., Mandich, P., Penco, S., Restagno, G., Zollino, M., & Surbone, A. (2014). Genetic counselling in ALS: facts, uncertainties and clinical suggestions. Journal of Neurology, Neurosurgery, and Psychiatry, 85(5), 478–485. doi: 10.1136/jnnp-2013-305546.CrossRefPubMedGoogle Scholar
- Dols-Icardo, O., García-Redondo, A., Rojas-García, R., Sánchez-Valle, R., Noguera, A., Gómez-Tortosa, E., Pastor, P., Hernández, I., Esteban-Pérez, J., Suárez-Calvet, M., Antón-Aguirre, S., Amer, G., Ortega-Cubero, S., Blesa, R., Fortea, J., Alcolea, D., Capdevila, A., Antonell, A., Lladó, A., Muñoz-Blanco, J. L., Mora, J. S., Galán-Dávila, L., Rodríguez De Rivera, F. J., Lleó, A., & Clarimón, J. (2014). Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Human Molecular Genetics, 23(3), 749–754. doi: 10.1093/hmg/ddt460.CrossRefPubMedGoogle Scholar
- Falcone, D. C., Wood, E. M., Xie, S. X., Siderowf, A., & Van Deerlin, V. M. (2011). Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest. Journal of Genetic Counseling, 20(4), 384–395. doi: 10.1007/s10897-011-9362-0.CrossRefPubMedPubMedCentralGoogle Scholar
- Goldman, J. S., Hahn, S. E., Catania, J. W., LaRusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., Bird, T., & American College of Medical Genetics and the National Society of Genetic Counselors. (2011). Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine, 13(6), 597–605. doi: 10.1097/GIM.0b013e31821d69b8.CrossRefPubMedPubMedCentralGoogle Scholar
- Kinsley, L., & Siddique, T. (2015). Amyotrophic Lateral Sclerosis Overview GeneReviews. In: A. M. Pagon RA, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K (Eds.)Google Scholar
- Mehta, P., Antao, V., Kaye, W., Sanchez, M., Williamson, D., Bryan, L., Muravov, O., Horton, K., Division of Toxicology and Human Health Sciences, Agency for Toxic Substances and Disease Registry, Atlanta, Georgia, & Centers for Disease Control and Prevention (CDC). (2014). Prevalence of amyotrophic lateral sclerosis - United States, 2010–2011. MMWR Surveillance Summaries, 63(Suppl 7), 1–14.Google Scholar
- Miller, T. M., Pestronk, A., David, W., Rothstein, J., Simpson, E., Appel, S. H., Andres, P. L., Mahoney, K., Allred, P., Alexander, K., Ostrow, L. W., Schoenfeld, D., Macklin, E. A., Norris, D. A., Manousakis, G., Crisp, M., Smith, R., Bennett, C. F., Bishop, K. M., & Cudkowicz, M. E. (2013). An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study. Lancet Neurology, 12(5), 435–442. doi: 10.1016/S1474-4422(13)70061-9.CrossRefPubMedPubMedCentralGoogle Scholar
- Talbot, K. (2014). Should all patients with ALS have genetic testing? J Neurol Neurosurg Psychiatry, 85(5).Google Scholar