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


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.


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


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)


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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

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