Knowledge, Attitudes and Demand Toward Cardiovascular Polygenic Risk Testing in Clinical Practice: Cross-Sectional Survey of Patients
Bibliographic record
Abstract
ABSTRACT Background The goal of this study was to assess patients’ prior exposure and current level of knowledge of polygenic risk scores (PRSs). We also explored reactions to receiving a high-risk or low-risk score, and gauged the overall attitudes and demand patients have with regards to PRSs. Methods We developed an online investigator-designed survey based on existing validated tools and previously designed surveys on genetic testing. There were two versions of the survey, one including a hypothetical high-risk PRS and one with a low-risk PRS. We administered the survey among patients attending a specialized cardiovascular prevention clinic. Results A total of 226 participants responded to the survey. The study population was predominantly high-income earning, educated, and of European descent. 177 patients (79%) had never read or heard about polygenic testing. 209 patients (93%) had never discussed polygenic testing with their health care professional (HCP). 208 patients (93%) had never received polygenic testing. The average score on the knowledge quiz was 2.47/10 [95% C.I. (2.17, 2.78)]. Participants that received a high-risk survey scored 20.52/35 [95% C.I. (16.14, 24.9)] with regards to negative emotions while low-risk survey participants scored 17.96/35 [95% C.I. (13.98, 21.94)] (p<0.001). Participants that received a high-risk survey scored 5.78/10 [95% C.I. (3.77, 7.79)] with regards to uncertainty and low-risk survey participants scored 4.34/10 [95% C.I. (2.50, 6.18)] (p<0.001). Participants that received a high-risk survey scored 12.42/15 [95% C.I. (10.43, 14.41)] for demand and low-risk survey participants scored 12.22/15 [95% C.I. (9.66, 14.78)] (p=0.549). Conclusions Patients have limited prior exposure and knowledge of PRSs. Compared to receiving a low-risk score, participants receiving a high-risk score have more negative emotions and feelings of uncertainty. Despite the lack of knowledge, and the high rate of negative emotions and uncertainty, demand for PRSs in cardiology practice is high and expected to increase.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".