Clinical trial · Interventional
Using the EHR to Advance Genomic Medicine Across a Diverse Health System
Using Behavioral Economics and Implementation Science to Advance the Use of Genomic Medicine Utilizing an EHR Infrastructure Across a Diverse Health System
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Given the expansion of indications for genetic testing and our understanding of conditions for which the results change medical management, it is imperative to consider novel ways to deliver care beyond the traditional genetic counseling visit, which are both amenable to large-scale implementation and sustainable. The investigators propose an entirely new approach for the implementation of genomic medicine, supported by the leadership of Penn Medicine, investigating the use of non-geneticist clinician and patient nudges in the delivery of genomic medicine through a pragmatic randomized clinical trial, addressing NHGRI priorities. Our application is highly conceptually and technically innovative, building upon expertise and infrastructure already in place. Innovative qualities of our proposal include: 1) Cutting edge EHR infrastructure already built to support genomic medicine (e.g., partnering with multiple commercial genetic testing laboratories for direct test ordering and results reporting in the EHR); 2) Automated EHR-based direct ordering or referring by specialist clinicians (i.e., use of replicable modules that enable specialist clinicians to order genetic testing through Epic Smartsets, including all needed components, such as populated gene lists, smartphrases, genetic testing, informational websites and acknowledgement e-forms for patient signature); 3) EHR algorithms for accurate patient identification (i.e., electronic phenotype algorithms to identify eligible patients, none of which currently have phenotype algorithms present in PheKB; 4) Behavioral economics-informed implementation science methods: This trial will be the first to evaluate implementation strategies informed by behavioral economics, directed at clinicians and/or patients, for increasing the use of genetic testing; further it will be the first study in this area to test two forms of defaults as a potential local adaptation to facilitate implementation (ordering vs. referring); and 5) Dissemination: In addition to standard dissemination modalities,PheKB95, GitHub and Epic Community Library, the investigators propose to disseminate via AnVIL (NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space). Our results will represent an entirely new paradigm for the provision of genomic medicine for patients in whom the results of genetic testing change medical management.
Conditions
Conditions (10)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| ALS | — | UNRESOLVED | — |
| Alzheimer Disease | — | UNRESOLVED | — |
| Cardiomyopathy Non-ischemic | — | UNRESOLVED | — |
| Frontotemporal Dementia | — | UNRESOLVED | — |
| Genetic Predisposition | — | UNRESOLVED | — |
| Paraganglioma | Paraganglioma | ONTOLOGY_EXACT | 0.98 |
| Parkinson Disease | — | UNRESOLVED | — |
| Pheochromocytoma | Adrenal Gland Pheochromocytoma | ALIAS | 0.90 |
| Polyneuropathies | — | UNRESOLVED |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Behavioral nudge | Behavioral | — | UNRESOLVED |
Design
Arms and outcomes
Arms (6)
- type
- ACTIVE_COMPARATOR
- label
- Generic BPA; no nudge
- description
- Usual care
- interventionNames
- Behavioral: Behavioral nudge
- type
- ACTIVE_COMPARATOR
- label
- Clinician nudge, order
- description
- Clinician will receive a nudge to order genetic testing for the patient.
- interventionNames
- Behavioral: Behavioral nudge
- type
- ACTIVE_COMPARATOR
- label
- Clinician nudge, refer
- description
- Clinician will receive a nudge to refer the patient for genetic testing.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * 18 years of age or older * diagnosed with one of the study conditions Exclusion Criteria: * Under 18 years of age * not diagnosed with one of the study conditions
References
Publications (1)
- DERIVEDRaper AC, Weathers BL, Drivas TG, Ellis CA, Kripke CM, Oyer RA, Owens AT, Verma A, Wileyto PE, Wollack CC, Zhou W, Ritchie MD, Schnoll RA, Nathanson KL. Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system. Implement Sci. 2024 Aug 19;19(1):61. doi: 10.1186/s13012-024-01385-5. PMID 39160614