Early Detection of GEnetic Risk (EDGE)

Implementing the Moon: Getting Genomic Testing to the Public

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.

Study Overview

• Status: Completed
• Conditions: Genetic Predisposition
• Intervention / Treatment: Behavioral: Population-level screening

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 Type: Interventional
• Enrollment (Actual): 20184
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Montana
    • Billings, Montana, United States, 59101
      • Billings Clinic
  • Washington
    • Tacoma, Washington, United States, 98405
      • MultiCare Health System

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 25 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria for Patients:

• 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

Exclusion Criteria:

• Those who do not meet inclusion criteria.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

3

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: 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.	Behavioral: 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.
Experimental: 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.	Behavioral: 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.
No Intervention: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rates of Screening	Fraction of the active clinic patient population that completed screening	1 year
Rates of Testing	Fraction of the active clinic patient population that completed genetic testing.	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Total Cost of Each Engagement Strategy	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.	2 years
Incremental Cost When Comparing Two Engagement Strategies	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).	2 years
Rates of Screening and Testing at Healthcare System A	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.	2 years
Incremental Patients Screened; Incremental Patients Tested	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).	2 years
Incremental Cost-effectiveness Ratio (ICER) Per Patient Screened; Incremental Cost-effectiveness Ratio Per Patient Tested	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.	2 years

Collaborators and Investigators

• Sponsor: University of Washington
• Collaborators: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Elizabeth M Swisher, MD, University of Washington

Study record dates

Study Major Dates

• Study Start (Actual): September 25, 2020
• Primary Completion (Actual): May 31, 2023
• Study Completion (Actual): June 1, 2023

Study Registration Dates

• First Submitted: December 29, 2020
• First Submitted That Met QC Criteria: February 4, 2021
• First Posted (Actual): February 10, 2021

Study Record Updates

• Last Update Posted (Estimated): October 9, 2024
• Last Update Submitted That Met QC Criteria: October 2, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: Implementation; Primary Care; Risk Assessment; Genetic Testing; Hereditary Cancer
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease
• Other Study ID Numbers: STUDY00009476; 1U01CA232795-01A1 (U.S. NIH Grant/Contract); RG1123410 (Registry Identifier: Fred Hutch/University of Washington Cancer Consortium)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No