Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017)
Bibliographic record
Abstract
A critical bottleneck in genomics is the mismatch of large volumes of results to the capacity of the current standard of returning results in-person by a genetic counselor. To test a web-based alternative to in-person results return, we designed a web platform that integrated education regarding carrier results with individualized test results and compared return of results through this platform to the same information returned by a counselor in a randomized controlled non-inferiority trial. Our outcomes included knowledge, testspecific distress, risk worry, decisional conflict, and communication of results to family members and healthcare providers. We randomized 462 participants into web or counselor arms. There were no statistically significant differences in socio-demographic differences between arms. One to seven carrier results were returned to each participant. The web was non-inferior to the counselor on outcomes assessed six months after return of results including: knowledge (d = 0.18; upper limit of 97.5%CI = 0.63; non-inferiority margin = 1), distress (d = -0.54; lower limit of 97.5%CI = -1.00; NFM = -1), risk worry (d = -0.10; lower limit of 97.5%CI = -0.32; NFM = -0.5), and decisional conflict (d = -1.18; lower limit of 97.5%CI = -2.66; NFM = -6). There were no significant differences between education arms in disclosure rates to children, siblings, or providers. Participants with children experienced significantly more decisional conflict when educated by the web, but the lower limit did not cross the non-inferiority margin. No other differences in outcomes were found between parents and non-parents. This wellpowered trial demonstrates non-inferiority of web-based communication of carrier results and should spur efforts to shift the communication of certain information about genomic test results from the clinic to the Internet to improve efficiency and reduce healthcare costs, allowing genetic counselors to prioritize in-person return of more threatening health risk information from sequencing.
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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 | 0.001 | 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 | 0.001 | 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".