Whether the outcome was positive or negative, individuals with IRDs who received genetic testing reported having very little regret about taking the test, and more than 80% felt empowered to manage their clinical care after knowing the causative gene. Photo: Rachelle Lin, OD. Click image to enlarge.

A major innovation in healthcare over the last couple of decades, genetic testing can provide individuals with useful information on disease inheritance, potentially altering the course of clinical care and introducing opportunities for treatments or clinical trials. Researchers recently evaluated the experiences of patients who underwent genetic testing, specifically for inherited retinal diseases (IRDs), to identify associations between underlying knowledge, testing outcomes and the perceived value of the results. They found that by and large, knowing the genetic cause of their IRD encouraged patients to learn more about how to manage it, and most had no regrets about taking the test regardless of whether a diagnosis was made.

In the study, online surveys were distributed to adults with IRDs (n=124) and parents/guardians of children/dependents with IRDs (n=24) who previously received genetic testing. The questions revolved around the details of genetic testing, pre-and post-test perceptions, Decision Regret Scale, perceived value of results and knowledge of gene therapy. Most participants had undergone genetic testing for no charge through public hospitals (49%) or in a research setting (30%).

Among 148 respondents, 99 received a conclusive diagnostic finding from genetic testing. Of these, “55% of adults and 45% of parents/guardians felt confident that they have a clear understanding of what their genetic test results mean; 34% of adults and 36% of parents/guardians felt like they understood somewhat, and 11% of adults and 18% of parent/guardians felt like they had no or little understanding of what the genetic results mean,”  the study authors noted in their paper, published in Scientific Reports. After genetic testing, respondents received information about their results largely from genetic counselors/geneticists (53%), ophthalmologists (42%), the internet (39%) and research teams (19%).

The respondents reported that their key motivations for genetic testing were to confirm IRD diagnosis and to contribute to medical research. Those who were more likely to have gained confidence in managing their clinical care were those who received a genetic diagnosis (odds ratio: 6.71) and those who reported having a good knowledge of gene therapy (odds ratio: 2.69). Additionally, for more than 80% of respondents, “knowing the causative gene empowered them to learn more about their IRD and explore opportunities regarding clinical trials,” the study authors wrote in their paper.

Another enlightening finding from the study was that most people who underwent genetic testing didn’t regret it after the fact. “The overall mean score for the decision regret scale was 6 (range 0–60) out of 100, with 65% of respondents scoring 0, indicating that most people had no regret towards genetic testing,” the authors reported. Also encouraging is the finding that level of regret was did not significantly differ between respondents who received an IRD diagnosis and those who didn’t.

“Our study has shown that both the outcome (positive/negative results) and an individual’s self-reported genomic literacy can influence how they respond to their genetic testing results,” they summarized. “These factors should be considered when counseling patients on their IRD genetic test results.”