Using the EHR to Advance Genomic Medicine Across a Diverse Health System

NCT06377033 | Recruiting

• 1 other identifier: 10877980
• Study Type: interventional
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Genetic Predisposition; Paraganglioma; Pheochromocytoma; ALS; Parkinson Disease; Polyneuropathies; Frontotemporal Dementia; Alzheimer Disease; Cardiomyopathy Non-ischemic; Thoracic Aortic Aneurysm

Keywords

Genetic testing; Genomic medicine; Electronic health record

Outcome Measures

Primary Outcomes (1)

• Rate of Genetic Testing

  The number of patients seen by the total number of genetic tests conducted

  3 years

Secondary Outcomes (4)

• Rate of Genetic Test Orders/Referrals

  3 years

• Rate of Patient Engagement

  3 years

• Rate of Pathogenic variants and VUS

  3 years

• Rate of Clinician actions

  3 years

Study Arms (6)

Generic BPA; no nudge

ACTIVE COMPARATOR

Usual care

Behavioral: Behavioral nudge

Clinician nudge, order

ACTIVE COMPARATOR

Clinician will receive a nudge to order genetic testing for the patient.

Behavioral: Behavioral nudge

Clinician nudge, refer

ACTIVE COMPARATOR

Clinician will receive a nudge to refer the patient for genetic testing.

Behavioral: Behavioral nudge

Patient nudge

ACTIVE COMPARATOR

The patient will receive a text message encouraging them to speak with their clinician about genetic testing.

Behavioral: Behavioral nudge

Clinician BPA order plus patient nudge

ACTIVE COMPARATOR

Clinician will receive a nudge to order genetic testing for the patient and the patient will receive a text message encouraging them to speak with their clinician about genetic testing.

Behavioral: Behavioral nudge

Clinician BPA refer plus patient nudge

ACTIVE COMPARATOR

Clinician will receive a nudge to refer patient for genetic testing and the patient will receive a text message encouraging them to speak with their clinician about genetic testing.

Behavioral: Behavioral nudge

Interventions

Behavioral nudge BEHAVIORAL

Comparison of genetic rates among individuals for whom it may make a difference in their care across study arms.

Clinician BPA order plus patient nudge; Clinician BPA refer plus patient nudge; Clinician nudge, order; Clinician nudge, refer; Generic BPA; no nudge; Patient nudge

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• years of age or older
• diagnosed with one of the study conditions

You may not qualify if:

• Under 18 years of age
• not diagnosed with one of the study conditions

Sponsors & Collaborators

• University of Pennsylvania: lead

Study Sites (1)

Penn Medicine

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (1)

• Raper 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 DERIVED

MeSH Terms

Conditions

Genetic Predisposition to Disease; Paraganglioma; Pheochromocytoma; Parkinson Disease; Polyneuropathies; Frontotemporal Dementia; Alzheimer Disease; Aortic Aneurysm, Thoracic

Condition Hierarchy (Ancestors)

Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Frontotemporal Lobar Degeneration; Dementia; TDP-43 Proteinopathies; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Neurocognitive Disorders; Mental Disorders; Tauopathies; Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases

Study Officials

• Katherine L Nathanson, MD

  University of Pennsylva

  PRINCIPAL INVESTIGATOR

• Robert Schnoll, PhD

  University of Pennsylva

  PRINCIPAL INVESTIGATOR

• Marylyn Ritchie, PhD

  University of Pennsylva

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Benita Weathers, MPH

CONTACT

2155738860; weathers@upenn.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: FACTORIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PROFESSOR, Translational Medicine and Human Genetics

Study Record Dates

• First Submitted: March 31, 2024
• First Posted: April 22, 2024
• Study Start: June 10, 2024
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: July 20, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)