Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program
Bibliographic record
Abstract
is a statewide newborn screening research program in North Carolina that offers optional whole genome sequencing-based screening to parents of newborns through an electronic education, consent, and return of results platform. Parents can elect to receive screening for over 200 monogenic conditions and risk for type 1 diabetes (T1D) using a genetic risk score (GRS). To address knowledge gaps in gNBS implementation, we conducted a concurrent mixed-methods study evaluating the feasibility, acceptability, and effectiveness of the program's electronic education, consent, and return of results processes among participants who received normal screening results. We emailed the evaluation survey link to consenting parents of all participating newborns with screening results showing no increased risk identified (n = 3,496). Survey respondents could indicate their willingness to participate in an interview. A total of 279 surveys and 14 interviews were included for quantitative and qualitative analysis. Findings revealed high levels of satisfaction (94.8% positive attitude). Overall, levels of regret were low, with two-thirds of respondents reporting no regret and an additional quarter reporting mild regret. Nonetheless, the proportion reporting mild regret indicates that a meaningful subset experienced some degree of uncertainty or second thoughts. Additionally, there was generally moderate comprehension overall, with 60.9% of parents demonstrating adequate knowledge when assessed across key items. Parents' frequently-endorsed motivators included learning about their baby's future health, the study being free, and the study not requiring extra blood samples. Although most appreciated the convenience and clarity of the process, some requested more information on topics including genetic testing and T1D GRS. Parents reported limited use of the educational videos and laboratory-generated screening reports, but most viewed the lay summary of normal results. Despite this selective engagement, they described the overall experience as accessible and well-designed. Parents' decisions to share results were primarily confined to family members, with fewer disclosures to healthcare providers. This study supports the feasibility and acceptability of large-scale electronic consent and return of results processes but highlights some challenges in comprehension and equity across diverse populations.
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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 | 0.055 | 0.045 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.003 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.001 | 0.002 |
| 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".