Genetic counseling considerations with rapid genome‐wide sequencing in a neonatal intensive care unit
Bibliographic record
Abstract
As genome-wide sequencing (GWS; exome sequencing [ES] and whole genome sequencing [WGS]) is implemented more frequently in the neonatal intensive care unit (NICU), it is important to understand parents' opinions regarding GWS, and views toward incidental findings (IFs) (also known as secondary findings). RAPIDOMICS was a pilot study of rapid trio-based (biological parents and neonate) ES for 25 neonates with a suspected genetic condition at the BC Women's Hospital NICU. As part of RAPIDOMICS, we explored parents' motivations and concerns regarding ES of their child, uptake of IFs for themselves, and rates of anxiety and depression at the time of pre-test genetic counseling via administration of the Generalized Anxiety Disorder Assessment 7 and Patient Health Questionnaire 8. These findings were compared to those from the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study (outpatient trio-based GWS) that includes pediatric patients with suspected genetic disease (with an average age of 10 years). Parents in RAPIDOMICS were more likely to identify "diagnosis" as their primary motivation to pursue GWS (p = 0.011), less likely to identify "no concerns" (p = 0.003), and less likely to opt in to receive IFs (p = 0.003) than parents in CAUSES. Rates of depression and anxiety in both groups were higher relative to the general population. We present novel findings regarding the similarities and differences in parental opinions and decisions of these cohorts.
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How this classification was reachedexpand
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 | 0.000 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".