Public Perceptions of Disease Severity but Not Actionability Correlate with Interest in Receiving Genomic Results: Nonalignment with Current Trends in Practice

Abstract

Purpose: Frameworks highlighting disease actionability and severity are evolving to address the need to organize results from genome-wide analyses. This approach represents a paradigm shift from consultations focused on one or more genes to multiple genes for multiple disorders. Empirical input from the general population is lacking, yet seems essential for understanding how to maximize patient autonomy and satisfaction in the decision-making process. Methods: We conducted a cross-sectional online survey with a representative sample of 900 US adults and assessed the participants' perceptions and attitudes toward disease actionability and severity, ranking hypothetical scenarios for these properties, and explored correlations with interest in learning test results. Results: Most respondents (>85%) rated actionability and severity as useful concepts; 46.6% indicated actionability alone would be adequate for decision making. Over half of them (53.8%) reported being very/extremely confident in their ability to score for actionability and severity. The participants' scoring of medical scenarios varied significantly between individuals. Scores for severity but not actionability were correlated with interest in learning genetic results. Subsets of the respondents projected wanting all results (30%) or no results (16%). The use of expert-created lists was acceptable to 43%. Conclusions: The respondents from the general population were confident in making their own decisions. The responses suggested different priorities than current expert-driven approaches. The emphasis on binning genes may be missing a complementary, simplifying approach of grouping patients based upon their all/none interest in genomic results. This study illuminates important differences between the general public and genetic experts.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

“…Multiple studies have documented that most participants want most, and usually all, possible secondary findings. This trend is consistent between studies asking this question as a hypothetical [29][30][31][32][33] or to inform actual return of results [34][35][36][37] . Consistent with these previous studies, the vast majority (84.8%) of parents participating in our study chose to receive all 13 categories of potential secondary results.…”

What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

“…Although our study uniquely addressed the issue of who should decide, our findings are supported by other findings that people, regardless of their health status, would generally like a choice about the WGS information they receive and many clinicians believe that people should have a choice about the results they receive (actionable or not). 17–19,29 Concerns have been raised regarding the feasibility of sharing WGS results, specifically with regard to the large amount of time and resources required to review and discuss all possible results in a genomic report, 30,31 as well as the difficulty counselling patients about all results in a report, or choosing a subset of actionable genes for analysis, when this information is constantly evolving. 7 These are important considerations given that the general population has limited knowledge and understanding of personalized medicine 32 and genomic policy experts have raised concerns regarding genomic literacy.…”

Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results

“…Graves et al () investigated the association between disease severity and actionability and found dementia had the largest percentage of high‐severity ratings, followed by adult blindness and breast/ovarian cancer. Similarly, in the present study, Alzheimer's disease had the greatest percentage of high‐severity ratings.…”

“…The three conditions were chosen to represent different types of WGS results that could occur, as well as conditions that differ in severity: Alzheimer's disease is incurable, lethal, and generally later onset (Thies & Bleiler, 2011); macular degeneration is incurable, not lethal, and generally later onset (de Jong, 2006); colon cancer is generally detectable early, treatable, lethal if untreated, and sometimes occurs with an earlier onset (Jasperson, Tuohy, Neklason, & Burt, 2010). While Alzheimer's disease and macular degeneration do not meet ACMG criteria for reporting of secondary findings, these conditions are identifiable through WGS, and they are comparable to three used by Graves et al (2015) (i.e., dementia, adult blindness, and breast/ovarian cancer);…”