Genomic Medicine Risk Assessment Care for Everyone - Implementation Phase

NCT06278883 | Completed

• 2 other identifiers: Pro00115007R01HG011794
• Study Type: interventional
• Target: 245
• Locations: 1 country
• Sites: 4

Brief Summary

The "Genomic medicine Risk Assessment Care for Everyone" (GRACE)" intervention project will develop a scalable end-to-end solution for risk assessment and management that meets the needs of those populations living in low resource settings. The long-term goal is to increase access to and uptake of risk-informed evidence-based guidelines that will improve population health through better patient outcomes, higher quality of life, and decreased costs. The three primary aims are: Aim 1: Develop a scalable implementation framework that guides each unique clinical setting, including low resource settings, in deploying GRACE effectively for the needs of their patients and providers. Aim 2: Facilitate the potential for genomic medicine to promote population health by broadening access to and uptake of genomic risk assessment by the general population through a pragmatic implementation-effectiveness trial of GRACE. Aim 3: Reduce health disparities related to genomic medicine by allowing individual adaption of GRACE to suit their level of resources, education, and access within a pragmatic implementation-effectiveness trial. Three sets of participants will be engaged: patients (n=750), providers (n=25), and family members of "probands" (i.e., patients that have a genetic change that increases risk, n\~500). Patient participants will be asked to complete a baseline survey, enter their family health history information into MeTree (a family health history web-based platform) and complete a survey about their experience using the platform. Subsequent study procedures will depend on: 1) the results of their MeTree risk evaluation, 2) their acceptance/declination of genetic testing (for those categorized as needing testing by MeTree), and 3) the results of the test (for those accepting testing). Provider participants will be providers who are the primary care physicians treating one or more patients enrolled in the patient participant group. Providers will be notified on a patient by patient basis once the patient participant under their care has complete the risk assessment process and the risk report is available from MeTree. At study completion, provider participants will be asked to complete a survey about their demographics, practice, and experiences with the study. Blood relatives of the probands who are identified by the proband as open to engaging with the study will be contacted and offered genetic counseling and genetic testing.

Conditions

Cardiovascular Diseases; Cancer; Liver Diseases; Hyperthermia

Keywords

implementation science; risk assessment; genetics; cascade screening; family history; hereditary conditions; genetic testing; genetic counselling

Outcome Measures

Primary Outcomes (4)

• Reach of genomic risk assessment

  The number of participants completing MeTree relative to the number of participants who consented to the study.

  at study completion, expected 1 year from study start

• Uptake of genetic counseling risk recommendations by the participant

  The number of participants who complete genetic counseling/the number of participants who are recommended for genetic counseling.

  at study completion, expected 1 year from study start

• Utility of genomic risk assessment

  The number of participants newly identified as at increased risk for familial and/or heritable conditions warranting genetic counseling and/or genetic testing.

  at study completion, expected 1 year from study start

• Uptake of genetic testing recommendations by the provider

  The number of participants who undergo genetic testing relative to the number of participants recommended for genetic testing (i.e., have a hereditary risk CDS outcome).

  at study completion, expected 1 year from study start

Study Arms (1)

Intervention

EXPERIMENTAL

Risk assessment pipeline

Behavioral: Disease Risk Assessment

Interventions

Disease Risk Assessment BEHAVIORAL

Undergo personal and family history-based risk assessment and make recommendations for managing risk.

Intervention

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Receiving primary medical care in one of the 5 participating clinics
• Age 18 years or older
• Able to read and communicate in English
• Able to provide written and verbal informed consent
• Willing to use the Internet

You may not qualify if:

• Previous genetic counseling and/or previous hereditary panel testing

Sponsors & Collaborators

• Duke University: lead
• National Human Genome Research Institute (NHGRI): collaborator

Study Sites (4)

UF Health Family Medicine - Lem Turner

Jacksonville, Florida, 32208, United States

Location

UF Health Family Medicine - Commonwealth

Jacksonville, Florida, 32254, United States

Location

UF Health Augustine Oaks

Jacksonville, Florida, 32258, United States

Location

UF Health Oakleaf

Orange Park, Florida, 32065, United States

Location

MeSH Terms

Conditions

Cardiovascular Diseases; Neoplasms; Liver Diseases; Hyperthermia

Condition Hierarchy (Ancestors)

Digestive System Diseases; Body Temperature Changes; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Heat Stress Disorders; Wounds and Injuries

Study Officials

• Lori Orlando, MD

  Duke University

  PRINCIPAL INVESTIGATOR

• Alexander S Parker, PhD

  University of Florida

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Everyone who consents is enrolled in the risk assessment pipeline.

Study Record Dates

• First Submitted: January 31, 2024
• First Posted: February 26, 2024
• Study Start: June 3, 2024
• Primary Completion: September 10, 2025
• Study Completion: September 10, 2025
• Last Updated: April 9, 2026

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP
• Time Frame: Data will become available 6 months after publication and be available indefinitely.
• Access Criteria: The data will be deposited in an NIH data repository (e.g., dbGaP) for access by others that conforms to the following criteria: 1) used solely for research purposes, 2) properly acknowledged in resulting publications, 3) kept confidential and inaccessible to third parties, and 4) destroyed or returned after analyses are completed. Additionally, users must agree not to use data to identify individual participants.

Locations

US (4)