Barriers to accessing cascade screening for families of heritable sudden cardiac death victims
Bibliographic record
Abstract
Abstract Background In younger individuals, many sudden cardiac deaths (SCDs) are caused by potentially heritable cardiac diseases (i.e. HCM, ARVC, LQTS, etc). First-degree relatives may have a 50% risk of being affected and should be referred for cascade genetic screening. Within Ontario, Canada, knowledge is lacking on how many receive cascade screening, and the reason(s) for not obtaining screening. Methods Between April 2023 to May 2024, we conducted a mixed methods study employing web-based surveys, including both closed and open-ended questions, and telephone interviews. First-degree relatives of individuals who died from heritable SCD in 2022, were invited to participate by email, and family physicians were recruited by emailing faculty members of the University of Toronto and using social media. Quantitative survey results using descriptive statistics are reported. Results Out of 91 eligible first-degree relatives, 54 (59.3%) responded and 37 completed the survey. The average age of participants was 42.7± 13.7 and 80.0% (24/30) were female. Three quarters (27/34) saw a cardiologist for screening and of those, 22.2% (6/27) were diagnosed with a heritable cardiac disease. Fewer than half (45.5%, 15/33) saw a genetic counsellor and 18.1% (6/33) had genetic testing performed. Reported reasons for not accessing cascade screening were: (1) hard to access the required specialist (16.7%, 1/6), (2) referral not sent by the family physician (16.7%, 1/6), (3) lack of time (16.7%, 1/6), (4) still waiting to be seen (16.7%, 1/6). Fifty family physicians completed the survey, with average age of 50.1 ± 12.3 and 69% (29/42) female. Fewer than 20% (9/48) reported having had a patient die from SCD due to a heritable cardiac disease. Most (91.1%; 41/45) reported limited knowledge about heritable cardiac diseases and few were familiar (7%; 3/45) with the term cascade screening. The most frequently reported barriers to referring first-degree relatives were: (1) not being notified about the SCD (82%; 36/44), (2) First-degree relatives not within their practice (70%; 31/44), (3) not knowing the cause of the SCD (68%; 30/44) and (4) lack of knowledge about heritable cardiac diseases (57%; 25/44). Conclusions The majority of first-degree relatives reported seeing a cardiologist, however less than half saw a genetic counsellor and even fewer had genetic testing. Most family physicians had limited knowledge about heritable cardiac diseases and the term cascade screening. Many family physicians reported substantial barriers to referring first-degree relatives. Systemic changes and education are needed to address these barriers.
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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 | 0.010 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.008 | 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".