P383: The clinician-reported genetic testing utility InDEx in the NICU (C-GUIDETM-NICU): Quantifying genome-wide sequencing utility in neonatal critical care
Bibliographic record
Abstract
Introduction: Genomic sequencing (GS) is increasingly used in multiple specialties as part of routine medical care.GS can generate thousands of variants for each patient undergoing testing, many of which are reclassified over time.This can have clinical implications, and some patients may expect to be recontacted with updated results.Recontact has a significant impact on healthcare system resources and patients.Thus, effective and practical methods are needed to support the return of results, as this need will continue to rise as the use of GS expands.Digital platforms offer feasible and scalable solutions to deliver updates, yet there is no platform to support recontact and return of results for patients in genetics.We describe the perspectives of genetics professionals about variant reclassification, patient recontact and the use of digital portals for recontacting patients.Methods: We are conducting semi-structured interviews with 30-40 genetics professionals involved in genetic testing and/or GS.The interviews explore the following topics: 1) current practices regarding patient recontact; 2) opinions and recommendations regarding variant reclassification; 3) opinions on the use of patient portals to return updated results; and 4) perceived barriers and facilitators to patient recontact and portal implementation.Data will be analyzed using an interpretive description approach.Preliminary findings are presented below.Results: We have interviewed 17 participants to date (9 genetic counselors, 4 medical geneticists, and 4 laboratory geneticists).Participants are favorable to integrating a patient portal in their practice because it could facilitate patient engagement, but they also caution about the potential risks and implementation challenges.Participants identified patient recontact as an important issue that extends beyond updated results communication.They report currently managing patient recontact on a case-by-case basis, and indicated that this approach could become unmanageable as the number of patients receiving GS increases.Participants expressed that digital tools will be an indispensable part of improving the efficiency of clinical genetics services delivery in the future.They considered digital tools to be underutilized, but emphasized the importance of using them in a way that ensures quality of care.Participants indicated that digital tools could facilitate patients' and providers' ability to communicate with one another, by allowing clinicians to connect with patients more efficiently, engaging patients in the recontact process, enabling clinicians to receive updated patient information and providing general education.Despite these potential advantages described by participants, they also cautioned about potential risks associated with digital tools.Specifically, they discussed the potential for patients to misinterpret results and misunderstand the impact on clinical management, and they were concerned about potentially widening disparities in access to genetics services.Study participants pointed out that certain specialties or clinical situations may be better suited to returning results through a portal with minimal clinician involvement (ie, cancer genetics and/or result with minimal impact on management) while others would require more patient support (ie, pediatric rare diseases).Finally, participants identified potential barriers to patient portals implementation that mainly stemmed from current institutional policies and inefficiencies of information technology (IT) infrastructures.They anticipated that the complex and changing nature of IT systems, as well as their lack of interoperability might hinder the development of a portal compatible with multiple settings, and that competing priorities and privacy concerns could impede widespread adoption.Conclusion: Genetics professionals view patient recontact as an important issue that could be improved by better exploiting digital tools.There is willingness to consider integration of these tools to complement clinical workflows, and anticipated system-based challenges to implementation.These findings are important considering the increasing demand for clinical genetics services, and will inform the development of a patient portal to return updated genomic results to patients who had GS.
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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 | 0.003 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| 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".