“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Whole genomic sequencing (WGS) promises significant personalized health benefits, and its increasingly low cost makes wide clinical use inevitable. However, a core challenge is "incidental findings" (IF). Using focus groups, we explored attitudes about the disclosure of IF in clinical settings from three perspectives: Genetics health-care professionals, the general public, and parents whose children have experienced genetic testing. Analysis was based on a framework approach. All three groups considered practical and ethical considerations. There was consensus that IF presented challenges for disclosure and a pre-test patient-clinician discussion was vital for clarification and agreement. The professionals favored targeted analysis to limit data handling and focus pre-test discussions on medical relevance. Their perspective highlighted ethical concepts of justice and beneficence. The lay groups' standpoint emphasized autonomy and patients' rights to choose what findings they receive, and that patients accept the consequences of any potential anxiety and uncertainty. The lay groups also felt that it was their responsibility to check genomic developments over time with their original test results and saw patient responsibility as an important part of patient choice.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it