Broadening the Reach, Impact, and Delivery of Genetic Services

Study Overview
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Brief Summary
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The purpose of this study is to compare the uptake of genetic testing among patients randomized with two different models of genetic services delivery (a patient-directed model and an enhanced standard of care model) and examine whether the impact on uptake differs by race/ethnicity and rurality. This study will also compare the effect of these delivery models on adherence to cancer prevention and screening recommendations and other patient responses.

Detailed Description
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Patient Screening: A comprehensive screening algorithm will identify patients with family history data in various sections of the electronic health record (EHR) who meet current genetic testing criteria. Randomization to study arm (Enhanced Standard of Care or Patient-Directed Standard of Care) will be at the level of the primary care clinic. Enhanced Standard of Care Patients will be offered the opportunity to schedule a pre-test genetic counseling visit. Pre-test counseling includes review of the family history, risk assessment, discussion of the purpose of genetic testing and possible outcomes, implications for insurance coverage, costs, and assessment of psychosocial needs. Patients can opt to proceed with genetic testing during this session. All test results are returned by a genetic counselor by phone or in person based on the patient preference. A copy of the results and a letter with tailored screening recommendations are returned to the primary care provider and patient via the patient portal or mail. Patient-Directed Standard of Care The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal of the electronic health record. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU (New York University). Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone. A copy of the results and a letter with tailored screening recommendations will be provided to the patient and primary care provider via the patient portal. All patients will be offered the option to schedule follow-up appointments in the genetics clinics. Genetic Testing: Genetic testing will be performed by Clinical Laboratory Improvement Act (CLIA)- certified, commercial laboratories based on standard clinical practice. Genetic testing will not be required to participate in the research questionnaires. Research Procedures: Two follow-up questionnaires will be sent via the patient portal following interaction with genetic counseling: i. Questionnaire #1: For participant who chose to receive genetic testing, a questionnaire will be sent approximately 4 weeks after their genetic results are returned. Through this questionnaire investigators will assess cognitive (i.e., recall, comprehension, uncertainty, risk perceptions), affective (i.e., test-related distress, positive reactions, decision regret), communication responses (i.e., family, provider), experience with genetic counseling, and sociodemographic characteristics. For those who chose not to test, a questionnaire will be sent approximately 4 weeks after last genetic service contact. In this questionnaire investigators will assess experience with genetic counseling, reason for not testing, decision regret, risk perceptions, and sociodemographic characteristics including numeracy. ii. Questionnaire #2: A questionnaire will be administered approximately 12 months after last genetic services contact. For those who chose to test, this questionnaire will ask about discussion of their test results with their primary care provider, family members, or others, and self-reported use of cancer screenings. For those who decide not to receive genetic testing, investigators will assess the self-reported use of cancer screenings, whether genetic testing was pursued at another time or through another source, communication with family members, and whether other relatives had received testing. For any participants who would like to complete questionnaires by telephone, a genetic counseling assistant or research coordinator will administer the questionnaire. Calls will be digitally recorded to allow for analysis of comprehension. Each questionnaire will take about 15 minutes to complete. Participants may also complete the questionnaires by mail if they choose. In addition to the questionnaires, investigators will examine screenings, care or health procedures related to genetic services recorded in the electronic health record to determine if an impact is made because of participation in genetic services.

Official Title
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Broadening the Reach, Impact, and Delivery of Genetic Services

Conditions
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Cancer, Risk Reduction Behavior

Intervention / Treatment
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* Other: Patient Directed Standard of Care


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Speaks English or Spanish AND First degree relative or second degree relative diagnosed with the following regardless of age: Ovarian Cancer, Pancreas Cancer OR First degree relative or second degree relative diagnosed with the following <50 years of age: Breast Cancer, Colorectal Cancer, Endometrial Cancer. OR Three of more relatives on the same side of the family diagnosed with the following clusters of cancer regardless of age: Breast Cancer, Ovarian Cancer, Pancreas Cancer, Prostate Cancer Colorectal Cancer, Endometrial Cancer, Ovarian Cancer, Pancreas Cancer, Urinary tract, Brain, Small intestine Melanoma, Pancreas Cancer OR Ashkenazi Jewish ancestry and family history of Breast Cancer, Ovarian Cancer, Pancreas Cancer, Prostate Cancer. Exclusion Criteria: Patients with a prior cancer diagnosis, other than non-melanoma skin cancer, and/or prior genetic counseling or testing related to hereditary cancer. Patients unable to access the patient portal

Ages Eligible for Study
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Minimum Age: 25 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Single


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: Patient Directed Standard of Care<br>Patients receive pre-test genetic counseling and, if relevant, post-test counseling for a negative result from an automated genetics education assistant. | Other: Patient Directed Standard of Care<br>* The pre-test genetic counseling visit will be conducted through access to an automated genetics education assistant accessed through the patient portal. The automated approach will address all the components of the pre-test counseling and contains content designed by the genetic counselors at the University of Utah and NYU. Patients will have the option to contact genetic counselors through the patient portal, by phone, or in person but this will not be required. All results will be reviewed by a genetic counselor. Negative results will be returned by the automated genetics education assistant. Genetic counselors will return results for pathogenic variants and variants of uncertain significance via phone.<br>|
| No Intervention: Enhanced Standard of Care<br>Patients receive standard counseling from a genetic counselor. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Completion of genetic testing from electronic health record | Percentage of patients who decide to receive genetic testing | 1 month following pre-test genetic counseling | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Completion of genetic counseling from electronic health record | Percentage of patients who decide to receive genetic counseling | 1 month after study invitation | 
| Adherence to management recommendations from genetic counselor: questionnaire | Adherence to cancer screening and prevention recommendations given by genetic counselor | 8 weeks and 13 months from pre-test counseling |