A Study of Patient Recall and Comprehension of Genetic Testing Results in Amyotrophic Lateral Sclerosis (ALS)

Topic:

Clinical Management

Poster Number: P335

Author(s):

Jennifer Roggenbuck, MS, CGC, The Ohio State University Wexner Medical Center, Jewel Tomlinson, MS, CGC, Ohio State University Medical Center, Victoria Klee, MS, CGC, Ohio State University Medical Center, Jianing Ma, MS, Ohio State University Medical Center, Emily Roberson, MS, CGC, Advocate Lutheran General Hospital

Background: With the advent of gene targeted therapies for amyotrophic lateral sclerosis (ALS), genetic testing is now an integral component of ALS care. However, patients’ ability to accurately recall and understand their test result has not been studied.
Objective: The aims of this study were to a) assess the accuracy of ALS patient recall of genetic testing results and b) to evaluate comprehension of key implications.
Methods: Registrants in the CDC National ALS Registry who had genetic testing were surveyed regarding their recollection and understanding of their genetic test result; comprehension was scored based on responses to key questions. Whenever possible, patient-reported test results were confirmed by review of their laboratory test report.
Results: Most participants (n=246) were white (96.7%) with high health literacy. Among participants whose reported result could be validated, most (74/88, 84.1%) accurately recalled whether they received a positive, negative, or uncertain result.
Among participants who reported positive results, 32/50 (64.0%) demonstrated understanding that their genetic testing results explained their ALS, while 38/50 (76.0%) accurately characterized the risk that first degree relatives carried the same variant. Approximately half (27/50, 54.0%) demonstrated high comprehension, defined as correctly responding to both key questions correctly.
Among participants who reported negative results, 100/142 (70.4%) indicated that their result ruled out a genetic cause for their ALS. When asked about risk for family members to develop ALS, 98/142 (69.0%) correctly characterized this residual risk. However, only 12/142 (8.5%) demonstrated high comprehension (defined as answering both questions correctly). Participants who saw a genetic counselor had significantly higher comprehension scores than those who did not (p = 0.024).
Conclusion: Although the majority of participants demonstrated accurate recall of their ALS genetic testing result, deficits in understanding of key implications were identified, particularly among those with negative results. Multidisciplinary ALS care should include board-certified genetic counselors.