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Genetic testing in Amyotrophic Lateral Sclerosis: A Survey of ALS Clinicians and Commercial Testing Laboratories

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2018, Master of Science, Ohio State University, Genetic Counseling.
Background: Although there is an increase of clinicians offering ALS genetic testing, the practice of offering genetic testing in the management of patients with ALS is currently inconsistent without consensus ALS genetic testing guidelines. Methods: We distributed a survey to clinicians that are members of the North East ALS Consortium (NEALS). The survey was comprised of multiple choice questions and a 9 item Likert scale that assessed clinicians’ attitudes of the offering of genetic testing. Results: The survey was email to 255 members of the North East ALS Consortium (NEALS); 80 responded (participant response rate = 31.4%). Approximately half (n=59/121, 48.8%) of NEALS sites were represented by at least one response. The majority of respondents (73.9%, 48/65) stated they would be more likely to offer genetic testing in their practice if there were consensus guidelines to direct the offer of ALS genetic testing, with 26.2% (17/65) not more likely to offer genetic testing. The majority of respondents (47/65, 72.3%) indicated patients who reported a family history of ALS; 57% (37/65) indicated patients with a family history of dementia or other neurodegenerative condition, 53.9% (35/65) indicated patients who have a young age of onset (50.8% (33/65) indicated patients who requested genetic testing (and a minority of respondents (24/65, 37%) indicated all ALS patients. Clinicians were specifically asked to indicate when genetic testing is offered to sALS patients, in their practice: 52.3% (34/65) indicated sALS patients with a family history of dementia, 46.2% (30/65) indicated sALS patients with early onset ALS, report and 37.0% (24/65) indicated all sALS patients. A mean attitude score was calculated for each respondent; the average attitude score of the respondents was 2.23 (with a possible range of 0 to 10, with 0 being the most positive), indicating the overall attitude score corresponded to a favorable perception. The association between attitude score and the practice of offering C9orf72 testing to all patients was also examined and found that 52.54% (31/59) of the respondents offered C9orf72 testing to all patients. Logistic regression revealed that for every one-point increase in the mean attitude score, the odds of offering the C9orf72 test universally decreased almost three-fold (OR=0.38, p =0.0052 (note: this is the reciprocal of 2.66), 95% CI (0.19, 0.75); higher scores correspond to more negative attitudes). Discussion/Conclusion: The survey results suggest the majority of clinicians have an overall positive attitude towards the offering of genetic testing for ALS. The majority of clinicians would appreciate consensus guidelines for genetic testing, as they reported they would offer more tests if they existed. ALS genetic testing and counseling guidelines, addressing test indication, interpretation, and counseling, may assist clinicians in navigating the challenges of this technology and enable equitable patient access to genetic information.
Jennifer Roggenbuck (Advisor)
49 p.

Recommended Citations

Citations

  • Klepek, H. N. (2018). Genetic testing in Amyotrophic Lateral Sclerosis: A Survey of ALS Clinicians and Commercial Testing Laboratories [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523829253204339

    APA Style (7th edition)

  • Klepek, Holly. Genetic testing in Amyotrophic Lateral Sclerosis: A Survey of ALS Clinicians and Commercial Testing Laboratories. 2018. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1523829253204339.

    MLA Style (8th edition)

  • Klepek, Holly. "Genetic testing in Amyotrophic Lateral Sclerosis: A Survey of ALS Clinicians and Commercial Testing Laboratories." Master's thesis, Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523829253204339

    Chicago Manual of Style (17th edition)