A study of patient recall and comprehension of genetic testing results in amyotrophic lateral sclerosis (ALS).

Objective

Assess the accuracy of ALS patient recall of genetic testing results and evaluate comprehension of key implications of results.

Methods

Participants were recruited from the Center for Disease Control's National ALS Registry. A survey collected participant demographics, their recollection of their genetic test result, and their understanding of the implications of their result. Comprehension was scored based on responses to key questions. Whenever possible, patient-reported test results were confirmed by review of their test report.

Results

Most participants (n = 246) were white (n = 238, 96.7%) with high health literacy. Among participants whose self-reported result could be validated, most 93/98 (94.9%) 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. Among participants who reported negative results, 100/142 (70.4%) incorrectly indicated that their result ruled out a genetic cause. When asked about the risk for family members to develop ALS, 98/142 (69.0%) correctly characterized this residual risk. However, only 12/142 (8.5%), answered both questions correctly. Overall, participants who saw a genetic counselor were more likely to demonstrate high comprehension (p = 0.022).

Conclusions

The majority of participants demonstrated accurate recall of their ALS genetic testing result. However, deficits in understanding of key implications were identified, particularly among those with negative results. Participants who saw a genetic counselor had significantly better comprehension of their test results than those who did not.