Journal of Genetic Counseling

, Volume 26, Issue 3, pp 604–611 | Cite as

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing

  • Karin N. Wagner
  • Haikady Nagaraja
  • Dawn C. Allain
  • Adam Quick
  • Stephen Kolb
  • Jennifer Roggenbuck
Original Research

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.

Keywords

Amyotrophic lateral sclerosis Genetic testing ALS genetics Access to care Genetic counseling 

Notes

Compliance with Ethical Standards

Ethical Statement

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.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2016_34_MOESM1_ESM.pdf (382 kb)
ESM 1 (PDF 381 kb)

References

  1. 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
  2. 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
  3. 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
  4. Fanos, J. H., Gelinas, D. F., & Miller, R. G. (2004). “You have shown me my end”: attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis. American Journal of Medical Genetics Part A, 129A(3), 248–253. doi: 10.1002/ajmg.a.30178.CrossRefPubMedGoogle Scholar
  5. Fong, J. C., Karydas, A. M., & Goldman, J. S. (2012). Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion. Alzheimer’s Research & Therapy, 4(4), 27. doi: 10.1186/alzrt130.CrossRefGoogle Scholar
  6. Gibson, S. B., Figueroa, K. P., Bromberg, M. B., Pulst, S. M., & Cannon-Albright, L. (2014). Familial clustering of ALS in a population-based resource. Neurology, 82(1), 17–22. doi: 10.1212/01.wnl.0000438219.39061.da.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 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
  8. Gros-Louis, F., Gaspar, C., & Rouleau, G. A. (2006). Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochimica et Biophysica Acta, 1762(11–12), 956–972. doi: 10.1016/j.bbadis.2006.01.004.CrossRefPubMedGoogle Scholar
  9. Juneja, T., Pericak-Vance, M. A., Laing, N. G., Dave, S., & Siddique, T. (1997). Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology, 48(1), 55–57.CrossRefPubMedGoogle Scholar
  10. 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
  11. Kullmann, P., Hayes, S., Wang, M. X., & Pamphlett, R. (2015). Designing an Internationally accessible web-based questionnaire to discover risk factors for amyotrophic lateral sclerosis: a case–control study. JMIR Res Protoc, 4(3), e96. doi: 10.2196/resprot.4840.CrossRefGoogle Scholar
  12. 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
  13. Mendez, E. F., & Sattler, R. (2015). Biomarker development for C9orf72 repeat expansion in ALS. Brain Research, 1607, 26–35. doi: 10.1016/j.brainres.2014.09.041.CrossRefPubMedGoogle Scholar
  14. 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
  15. Renton, A. E., Chio, A., & Traynor, B. J. (2014). State of play in amyotrophic lateral sclerosis genetics. Nature Neuroscience, 17(1), 17–23. doi: 10.1038/nn.3584.CrossRefPubMedGoogle Scholar
  16. Roggenbuck, J., Quick, A., & Kolb, S. J. (2016). Genetic testing and genetic counseling for anyotrophic lateral sclerosis: an update for clinicians. Genetics in Medicine. doi: 10.1038/gim.2016.107 [Epub ahead of print].PubMedGoogle Scholar
  17. Rowland, L. P., & Shneider, N. A. (2001). Amyotrophic lateral sclerosis. New England Journal of Medicine, 344(22), 1688–1700. doi: 10.1056/NEJM200105313442207.CrossRefPubMedGoogle Scholar
  18. Talbot, K. (2014). Should all patients with ALS have genetic testing? J Neurol Neurosurg Psychiatry, 85(5).Google Scholar
  19. Testa, D., Lovati, R., Ferrarini, M., Salmoiraghi, F., & Filippini, G. (2004). Survival of 793 patients with amyotrophic lateral sclerosis diagnosed over a 28-year period. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 5(4), 208–212.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Karin N. Wagner
    • 1
  • Haikady Nagaraja
    • 2
  • Dawn C. Allain
    • 1
    • 3
  • Adam Quick
    • 4
  • Stephen Kolb
    • 4
    • 5
  • Jennifer Roggenbuck
    • 3
    • 4
  1. 1.Genetic Counseling Graduate ProgramThe Ohio State UniversityColumbusUSA
  2. 2.Division of BiostatisticsThe Ohio State UniversityColumbusUSA
  3. 3.Division of Human Genetics, Department of Internal MedicineThe Ohio State UniversityColumbusUSA
  4. 4.Department of NeurologyThe Ohio State UniversityColumbusUSA
  5. 5.Department of Biological Chemistry and PharmacyThe Ohio State UniversityColumbusUSA

Personalised recommendations