Early Detection of GEnetic Risk (EDGE)

Not Applicable

Completed

• Conditions: Genetic Predisposition
• Interventions: Behavioral: Population-level screening

• Registration Number: NCT04746794
• Lead Sponsor: University of Washington

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.

Study Timeline

• Study Start: 2020-09-25
• Study First Submitted: 2020-12-29
• Study First Submitted QC: 2021-02-04
• Study First Posted: 2021-02-10
• Primary Completion: 2023-05-31
• Study Completion: 2023-06-01
• Results First Submitted: 2024-05-24
• Status Verified: 2024-10
• Results First Submitted QC: 2024-10-02
• Last Update Submitted: 2024-10-02
• Results First Posted: 2024-10-09
• Last Update Posted: 2024-10-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 20184

Inclusion Criteria

Not provided

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Exclusion Criteria

• Those who do not meet inclusion criteria.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Point of Care	Population-level screening	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.
Direct Patient Engagement	Population-level screening	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.

Primary Outcome Measures

Name	Time	Method
Rates of Screening	1 year	Fraction of the active clinic patient population that completed screening
Rates of Testing	1 year	Fraction of the active clinic patient population that completed genetic testing.

Secondary Outcome Measures

Name	Time	Method
Total Cost of Each Engagement Strategy	2 years	This outcome is the total costs for each engagement strategy, scaled to a healthcare system of 100,000 patients. The total costs from the health-system perspective is the sum of program costs and staff costs over 2 years, in U.S. dollars. The cost from the limited societal perspective includes patient costs in addition to health-system costs. The total costs will be used in the incremental cost calculation below.
Incremental Cost When Comparing Two Engagement Strategies	2 years	This outcome is the comparative (incremental) cost of two different engagement strategies for population-based risk assessment for hereditary cancer genetic screening and testing in primary care. The total costs for each arm are presented in outcome 3 above. The incremental cost is the difference in total costs when comparing the DPE arm to the POC arm (DPE minus POC).
Rates of Screening and Testing at Healthcare System A	2 years	The table displays the percentages (i.e., proportions) of screening and testing that occurred in the study. The number of patients screened and the number tested are listed as well, but as the denominators differ, the results for Outcome 6 will be based on scaling the proportions to a theoretical healthcare system with 100,000 patients. This information will then be used along with the incremental costs for a healthcare system with 100,000 patients (Outcome 4) to determine the incremental cost-effectiveness ratios (ICERs) presented in Outcome 7.
Incremental Patients Screened; Incremental Patients Tested	2 years	This outcome is the comparative (incremental) difference between the two different engagement strategies in screening and testing outcomes. The total patients screened and tested for each arm are presented in outcome 5 above. The proportions for these outcomes were then scaled to a healthcare system of 100,000 patients and the incremental difference was calculated by comparing the DPE arm to the POC arm (DPE minus POC). Scaling the numbers to a healthcare system of 100,000 patients is necessary for this component to be compatible with the costs for a healthcare system of 100,000 patients given in Outcome 4, in order to calculate the ICERs (Outcome 7).
Incremental Cost-effectiveness Ratio (ICER) Per Patient Screened; Incremental Cost-effectiveness Ratio Per Patient Tested	2 years	This outcome is the Incremental Cost-effectiveness Ratio (ICER). The ICER estimates how much the DPE strategy costs, relative to the POC strategy (DPE minus POC), to improve the outcome measure by 1 unit (in this case one additional patient screened or one additional patient tested). The ICER is calculated by using the difference in costs (outcome 4) divided by the difference in outcome (outcome 6). When the numerator is positive and the denominator is negative (as it is for screening), general practice is to state the second strategy (DPE in this case) was "dominated" by the first strategy (the standard, which is POC in this case). A negative ICER can be misinterpreted, making this clarification necessary.

Trial Locations

Locations (2)

Billings Clinic; 🇺🇸 Billings, Montana, United States

MultiCare Health System; 🇺🇸 Tacoma, Washington, United States