Early Detection of GEnetic Risk (EDGE)

NCT ID: NCT04746794

Last Updated: 2024-10-09

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 20184 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2020-09-25
• Study Completion Date: 2023-06-01

Brief Summary

The study intervention involves having patients complete a familial cancer risk assessment survey. Those who are found to be at high risk will be offered genetic testing for a panel of hereditary cancers. A "previvor" plan will be created to assist patients and their providers in completing the appropriate follow-up for those with a mutation identified.

Detailed Description

Current practice guidelines from ACMG (American College of Medical Genetics and Genomics) provide referral indications for cancer predisposition assessment. Identifying patients with high genetic risk for breast, ovary, colon, or other cancers has important clinical ramifications for an individual's healthcare, but genetic risk if often not identified because of testing barriers at several levels. Barriers at the provider level include inadequacies in risk recognition, patient referrals and availability of genetic professionals to provide counseling in a traditional testing paradigm. Barriers at the level of the patient include poor understanding of the availability and benefits of testing and inadequate access to testing services. How to best implement appropriate genomic testing and follow-up care into an operating healthcare system is not known. Issues of communication, clinical flow, reportable actions, and transmission of information and support are of critical importance, and must change and grow to accommodate the new information contained within genomic testing. Studies to date of the implementation process have been conducted in high resourced facilities, under optimal conditions, often not at the system level. Aims include:

1. Compare the efficacy and implementation of two strategies for identifying members of a primary care clinic's population who have a family or personal history of cancer and offering high-risk individuals to obtain genetic testing for cancer susceptibility mutations in a randomized trial. The two methods are: 1) Point of Care (POC) approach: A tablet-based screening for family/personal history of cancer will be offered to all patients aged 25 and up coming in for a routine appointment at the clinic. 2) Direct Patient Engagement (DPE): Emails and letters will be sent to all individuals aged 25 and older in a clinic's population, inviting them to visit a web site for screening for family /personal history of cancer. In both strategies, those determined to be high-risk will receive online education about genetic testing and an invitation to obtain such testing through a web-based platform. Randomization will occur at the clinic level, with half of the clinics using the POC approach and the other half using DPE. Outcomes will be the fraction of the active clinic patient population that completes screening and the fraction of the active clinic patient population that undergoes testing.

Hypothesis 1: DPE screening will result in a higher proportion of active patients who screen for familial cancer risk compared with POC screening.

Hypothesis 2: Of screened patients, POC patients will produce a higher proportion of tested patients compared with DPE.

2. Identify changes, problems, and inefficiencies in clinical flow and interactions during and after the implementation of genomic testing for cancer risk across primary care clinics.

3. Evaluate the effects of two methods of implementation of genomic screening for cancer risk on patient, provider, and health system leader reports of benefits and harms, satisfaction, perceived quality of care, including across gender, racial/ethnic, socioeconomic, and genetic literacy divides.

4. Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.

Conditions

Genetic Predisposition

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: PREVENTION
• Blinding Strategy: NONE

Study Groups

Point of Care

For clinics in the point of care (POC) arm, patients will be approached at the time they come in to the clinic for a routine visit with their primary care provider. We will screen patients for familial cancer risk using electronic tablets in the waiting room or, in the case of a telehealth visit, through telephone contact before the visit. Patients identified as high risk will be offered genetic testing for a panel of hereditary cancers.

Group Type: EXPERIMENTAL

Population-level screening

Intervention Type: BEHAVIORAL

The study intervention involves having patients complete a familial cancer risk assessment survey. Those who are found to be at high risk will be offered genetic testing for a panel of hereditary cancers. A "previvor" plan will be created to assist patients and their providers in completing the appropriate follow-up for those with a mutation identified.

Direct Patient Engagement

For clinics in the direct patient engagement (DPE) arm, patients will be identified by reviewing clinic records to create an "active" patient list (i.e., those who have had a visit in the past year). We will contact patients by postal mail and email to provide a link to the online risk screening tool. The patient outreach is not tied to a specific visit and the online screening can be completed at any time. Patients identified as high risk will be offered genetic testing for a panel of hereditary cancers.

Group Type: EXPERIMENTAL

Population-level screening

Intervention Type: BEHAVIORAL

The study intervention involves having patients complete a familial cancer risk assessment survey. Those who are found to be at high risk will be offered genetic testing for a panel of hereditary cancers. A "previvor" plan will be created to assist patients and their providers in completing the appropriate follow-up for those with a mutation identified.

Stakeholder Interviews and Surveys

Samples of patients, providers, and clinic leaders will be assessed at several points throughout the study - baseline and follow-up. We will use a mixed methods approach, with both quantitative assessments (surveys) and qualitative assessments (interviews). Baseline assessments will provide initial data on the patient population and current clinic functioning and help in implementation planning. The final assessments will provide estimates of change in patients, providers, and clinic leaders as a result of the implementation.

Group Type: NO_INTERVENTION

No interventions assigned to this group

Interventions

Population-level screening

The study intervention involves having patients complete a familial cancer risk assessment survey. Those who are found to be at high risk will be offered genetic testing for a panel of hereditary cancers. A "previvor" plan will be created to assist patients and their providers in completing the appropriate follow-up for those with a mutation identified.

Intervention Type: BEHAVIORAL

Eligibility Criteria

Inclusion Criteria

• Age 25 or older
• An active patient at a participating clinic (had at least one visit in the past 12 months)
• Comfortable reading and writing in English

• Minimum Eligible Age: 25 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

University of Washington

OTHER

Sponsor Role: lead

Responsible Party

Elizabeth Swisher

Gynecologic oncologist

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Elizabeth M Swisher, MD

Role: PRINCIPAL_INVESTIGATOR

University of Washington

Locations

Billings Clinic

Billings, Montana, United States

MultiCare Health System

Tacoma, Washington, United States

Countries

United States

References

Swisher EM, Harris HM, Knerr S, Theoryn TN, Norquist BM, Brant J, Shirts BH, Beers F, Cameron D, Dusic EJ, Riemann LA, Devine B, Raff ML, Kadel R, Cabral HJ, Wang C. Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2025 Mar 3;8(3):e250185. doi: 10.1001/jamanetworkopen.2025.0185.

Reference Type: DERIVED

PMID: 40053353 (View on PubMed)

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

1U01CA232795-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

RG1123410

Identifier Type: REGISTRY

Identifier Source: secondary_id

STUDY00009476

Identifier Type: -

Identifier Source: org_study_id