Genetic PredispositionNCT04746794
Early Detection of GEnetic Risk (EDGE)
A study testing Population-level screening in people with Genetic Predisposition, run by University of Washington at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 25 years and olderHealthy volunteers can take part
- Conditions the study is for
- Genetic Predisposition
- What is being tested?
- Population-level screening
- Type of treatment
- Pill or oral medicine, Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20,184 participants
- Where
- 2 sitesUnited States
- Study dates
- 25 Sep 2020to 1 Jun 2023
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 25 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- Those who do not meet inclusion criteria.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Billings Clinic
Billings, Montana, 59101
MultiCare Health System
Tacoma, Washington, 98405
About this study
Official title: 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.
Read the 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:
- 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.
- 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.
- 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.
- Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.
- Conditions
- Genetic Predisposition
- Being tested
- Population-level screening
- Keywords
- Primary Care, Genetic Testing, Risk Assessment, Hereditary Cancer, Implementation
- Medical subject headings
- Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Population-level screeningBehavioural
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 group | Role | What they receive |
|---|---|---|
| Point of Care | Experimental | 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. Receives: Behavioral: Population-level screening |
| Direct Patient Engagement | Experimental | 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. Receives: Behavioral: Population-level screening |
| Stakeholder Interviews and Surveys | No intervention | 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 being measured
The primary outcome is the main question the study is designed to answer.
Rates of Screening
Fraction of the active clinic patient population that completed screening
Measured: 1 year
Rates of Testing
Fraction of the active clinic patient population that completed genetic testing.
Measured: 1 year
Secondary outcomes (5)
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.
Measured: 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).
Measured: 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.
Measured: 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).
Measured: 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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2021
- Study start25 Sep 2020
- Primary completion31 May 2023
- Study completion1 Jun 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Genetic PredispositionStudies of the same condition, open and under way.
- More trials run by University of WashingtonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20,184 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Washington
- Sponsor type
- University, hospital or other
- Collaborators
- National Cancer Institute (NCI)
- Responsible party
- Principal investigator, Elizabeth Swisher, University of Washington
- Investigators
- Elizabeth M Swisher, MD, Principal investigator, University of Washington
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04746794
- Sponsor's protocol ID
- STUDY00009476
- Other IDs
- 1U01CA232795-01A1, RG1123410
- Status last verified
- Oct 2024
- First submitted
- 29 Dec 2020
- Last updated
- 9 Oct 2024
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Devine B, Aalbers SE, Chan H, Jiang S, Dusic EJ, Knerr S, Harris HM, Wang C, Norquist BM, Riemann LA, Brant JM, Shirts BH, Swisher EM. Cost-effectiveness of primary care-based risk assessment and hereditary cancer genetic testing. BMC Prim Care. 2025 Dec 22;27(1):33. doi: 10.1186/s12875-025-03137-w.
PubMed 41423596Swisher 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.
PubMed 40053353
Study at a glance
From the registry record, last updated by the sponsor on 9 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Implementing the Moon: Getting Genomic Testing to the Public
- ClinicalTrials.gov ID
- NCT04746794
- Acronym / sponsor ID
- STUDY00009476
- Conditions
- Genetic Predisposition
- Keywords
- Primary Care, Genetic Testing, Risk Assessment, Hereditary Cancer, Implementation
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20,184 participants (actual)
- Lead sponsor
- University of WashingtonUniversity, hospital or other
- Collaborators
- National Cancer Institute (NCI)
- Study start
- 25 Sep 2020 (actual)
- Primary completion
- 31 May 2023 (actual)
- Study completion
- 1 Jun 2023 (actual)
- First posted
- 10 Feb 2021 (actual)
- Results
- Posted 9 Oct 2024
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
- 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.
- 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.
- Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.
Study design
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Point of Care | Experimental | Behavioral: Population-level screeningFor 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 | Experimental | Behavioral: Population-level screeningFor 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. |
| Stakeholder Interviews and Surveys | No intervention | –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. |
Who may qualify
- Ages
- 25 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (1 listed)
- Those who do not meet inclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Population-level screeningThe 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. | Behavioural | Direct Patient Engagement, Point of Care |
Primary outcome
Rates of Screening
Time frame: 1 year
Fraction of the active clinic patient population that completed screening
Rates of Testing
Time frame: 1 year
Fraction of the active clinic patient population that completed genetic testing.
5 secondary outcomes
Total Cost of Each Engagement Strategy
Time frame: 2 years
Incremental Cost When Comparing Two Engagement Strategies
Time frame: 2 years
Rates of Screening and Testing at Healthcare System A
Time frame: 2 years
Incremental Patients Screened; Incremental Patients Tested
Time frame: 2 years
Incremental Cost-effectiveness Ratio (ICER) Per Patient Screened; Incremental Cost-effectiveness Ratio Per Patient Tested
Time frame: 2 years
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Oct 2024.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 41423596Devine B, Aalbers SE, Chan H, Jiang S, Dusic EJ, Knerr S, Harris HM, Wang C, Norquist BM, Riemann LA, Brant JM, Shirts BH, Swisher EM. Cost-effectiveness of primary care-based risk assessment and hereditary cancer genetic testing. BMC Prim Care. 2025 Dec 22;27(1):33. doi: 10.1186/s12875-025-03137-w.
- Derived from this study: PubMed 40053353Swisher 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elizabeth M Swisher, MD principal investigator
University of Washington
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Population-level screening in people with Genetic Predisposition, run by University of Washington at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 9 Oct 2024). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rates of Screening (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04746794, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Oct 2024.