Genetic Predisposition
Conditions
Keywords
genetic counseling service delivery
Brief summary
This 2-arm prospective, randomized, controlled clinical trial compared outcomes of telephone genetic counseling (intervention) versus in-person genetic counseling (control) in an underserved, multilingual patient population referred for cancer genetic counseling at two North Texas safety-net hospitals. The main question\[s\] it aims to answer are: * Is telephone genetic counseling equal to in-person genetic counseling in the patient reported outcomes? Cancer genetics knowledge, attitude towards GT, and informed choice as well as GC-specific empowerment. * Is telephone genetic counseling-based clinical outcomes the same as in-person genetic counseling for visit completion and testing rates? Participants will be randomized to either in-person or telephone genetic counseling arm and complete standard of care genetic counseling visit process where testing is offered. Both arms will complete a series of surveys to assess the outcomes of interest.
Detailed description
The overarching goal of this pilot prospective randomized controlled study is to compare patient-reported and clinical operations outcomes between in-person genetic counseling (IPGC - control) and telephone-based genetic counseling (TGC - intervention) in an indigent English or Spanish-speaking population seeking genetic counseling for hereditary cancer syndromes to create a framework for effective and efficient genetic service delivery in these populations nationally. General genetic education and principles will be conveyed through a standard genetic counseling session including a pre-test education video in both the TGC and IPGC arms. The primary project objectives are to compare the following outcomes between the IPGC and TGC study arms. Aim 1: Patient reported outcomes - A. Patient satisfaction with genetic counseling visit; B. Knowledge of basic principles of cancer genetics and implications of genetic testing for personal healthcare and relatives. Secondary objectives for this aim are: 1. Patient ability to make informed choice; and 2. Genetic counseling-specific empowerment outcomes. Aim 2: Clinical outcomes - visit completion rate; Secondary objectives are: 1. Genetic testing completion rate; and 2. Genetic testing cancelation/failure rate. Investigators hypothesize that patients in the TGC arm will not have significant differences in knowledge, satisfaction, informed choice or genetic counseling-specific empowerment compared to the IPGC arm. Investigators also expect significantly increased visit completion rate and lower test completion rate in the TGC arm compared to the IPGC arm, but no significant difference in sample failure rate.
Interventions
None listed
Sponsors
National Society of Genetic Counselors
University of Texas Southwestern Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
No
Exclusion criteria
* Patients who are English or Spanish-speaking * Adults (18 years and older) * Patients scheduled for cancer genetic counseling * Patients must either be uninsured or have Medicaid * Patients must have no prior germline genetic testing or cancer genetic counseling * Patients must have a working telephone number and valid e-mail address * Patients must have Internet access to complete electronic study surveys, and receive study-related documents electronically
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Knowledge Score | MMIC Survey administered within 7 days prior to and post-genetic counseling visit | Measure change in knowledge of basic principles of cancer genetics and implications of genetic testing for personal healthcare and relatives pre- and post- genetic counseling using the Multi-dimensional Model of Informed Choice (MMIC) scale knowledge score, with minimum and maximum scores of 0 and 8 respectively, and higher scores correlated with better knowledge |
| Patient Reported Outcome of Patient Satisfaction | GCSS survey administered within 7 days post-genetic counseling visit | Measure patient-reported patient satisfaction with genetic counseling visit using the Genetic Counseling Satisfaction Scale (GCSS) scores, with minimum and maximum values of 6 and 30 respectively and higher scores correlated with higher satisfaction |
| Clinical Outcome Measure of Genetic Counseling Visit Completion | Genetic counseling visit completion was evaluated daily, up to 13.5 months | Measure difference in genetic counseling visit completion rate between study arms |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Patient Reported Outcome of Genetic Counseling-specific Empowerment | GOS survey administered within 7 days prior to and post-genetic counseling visit | Measure change in patient reported genetic counseling-specific empowerment pre and post-genetic counseling using the Genomic Outcome Scale (GOS) scores with minimum and maximum scores of 6 and 30 respectively and higher scores correlated with improved outcomes |
| Number of Participants That Made an Informed Choice | MMIC survey administered within 7 days post-genetic counseling and genetic testing uptake during scheduled genetic counseling appointment | Participants' ability to make an informed choice is assessed by the number of participants that made an informed choice using the Multi-dimensional Model of Informed Choice composite tool that includes understanding of relevant knowledge (1-8 items-higher scores indicate greater knowledge), attitudes toward testing (1-5 items-higher scores represent more positive attitudes), and whether the test decision is congruent with personal values (positive or negative about testing in relation to whether testing was accepted or declined). |
| Clinical Outcome Measure of Genetic Testing Completion | Sample for testing provided within 45 days of visit without sample failure | Measure genetic test completion rate between study arms |
Countries
United States
Participant flow
Recruitment details
Between 2022 and 2023, adult patients referred for cancer genetic counseling at two cancer genetics clinics housed in two safety-net hospitals in North Texas were recruited for the study. Patients had to meet the following inclusion criteria: be age 18 or older; speak English or Spanish; be uninsured or have Medicaid; have no prior cancer genetic counseling or testing; and have internet access, a valid email, and a working telephone number. Patients were excluded if they met exclusion criteria.
Pre-assignment details
Vulnerable populations and patients referred to genetic counseling for surgical planning were excluded from the study and were not assigned to a study arm.
Participants by arm
| Arm | Count |
|---|---|
| In-person Genetic Counseling Patients referred for standard of cancer genetic counseling are seen in-person with a genetic counselor for service. | 100 |
| Telephone Genetic Counseling Patients referred for standard of cancer genetic counseling are on the telephone with a genetic counselor for service.
Telephone genetic counseling: genetic counseling service delivered audio-only | 101 |
| Total | 201 |
Baseline characteristics
| Characteristic | In-person Genetic Counseling | Telephone Genetic Counseling | Total |
|---|---|---|---|
| Age, Categorical <=18 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical >=65 years | 2 Participants | 1 Participants | 3 Participants |
| Age, Categorical Between 18 and 65 years | 98 Participants | 100 Participants | 198 Participants |
| Cancer Diagnosis No | 65 Participants | 78 Participants | 143 Participants |
| Cancer Diagnosis Yes | 35 Participants | 23 Participants | 58 Participants |
| Preferred Language English | 47 Participants | 55 Participants | 102 Participants |
| Preferred Language Spanish | 53 Participants | 46 Participants | 99 Participants |
| Race/Ethnicity, Customized American Indian or Alaska Native | 0 Participants | 1 Participants | 1 Participants |
| Race/Ethnicity, Customized Asian | 1 Participants | 0 Participants | 1 Participants |
| Race/Ethnicity, Customized Black or African American | 13 Participants | 22 Participants | 35 Participants |
| Race/Ethnicity, Customized Hispanic or Latino, NOS | 33 Participants | 21 Participants | 54 Participants |
| Race/Ethnicity, Customized White, Hispanic or Latino | 42 Participants | 44 Participants | 86 Participants |
| Race/Ethnicity, Customized White, Non-Hispanic or Latino | 11 Participants | 13 Participants | 24 Participants |
| Region of Enrollment United States | 100 Participants | 101 Participants | 201 Participants |
| Sex: Female, Male Female | 89 Participants | 92 Participants | 181 Participants |
| Sex: Female, Male Male | 11 Participants | 9 Participants | 20 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 0 | 0 / 0 |
| other Total, other adverse events | 0 / 0 | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 | 0 / 0 |
Outcome results
Primary
Change in Knowledge Score
Measure change in knowledge of basic principles of cancer genetics and implications of genetic testing for personal healthcare and relatives pre- and post- genetic counseling using the Multi-dimensional Model of Informed Choice (MMIC) scale knowledge score, with minimum and maximum scores of 0 and 8 respectively, and higher scores correlated with better knowledge
Time frame: MMIC Survey administered within 7 days prior to and post-genetic counseling visit
Population: Population who completed genetic counseling and all study surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| In-person Genetic Counseling | Change in Knowledge Score | 0.05 score on a scale | Standard Deviation 1.37 |
| Telephone Genetic Counseling | Change in Knowledge Score | -0.08 score on a scale | Standard Deviation 1.51 |
Primary
Clinical Outcome Measure of Genetic Counseling Visit Completion
Measure difference in genetic counseling visit completion rate between study arms
Time frame: Genetic counseling visit completion was evaluated daily, up to 13.5 months
Population: Participants who completed the Pre-Genetic Counseling Survey and were scheduled for genetic counseling (in-person or via telephone) through the study
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| In-person Genetic Counseling | Clinical Outcome Measure of Genetic Counseling Visit Completion | 141 Participants |
| Telephone Genetic Counseling | Clinical Outcome Measure of Genetic Counseling Visit Completion | 131 Participants |
Primary
Patient Reported Outcome of Patient Satisfaction
Measure patient-reported patient satisfaction with genetic counseling visit using the Genetic Counseling Satisfaction Scale (GCSS) scores, with minimum and maximum values of 6 and 30 respectively and higher scores correlated with higher satisfaction
Time frame: GCSS survey administered within 7 days post-genetic counseling visit
Population: Participants who completed genetic counseling and all study surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| In-person Genetic Counseling | Patient Reported Outcome of Patient Satisfaction | 24.64 score on a scale | Standard Deviation 5.38 |
| Telephone Genetic Counseling | Patient Reported Outcome of Patient Satisfaction | 25.27 score on a scale | Standard Deviation 3.75 |
Secondary
Clinical Outcome Measure of Genetic Testing Completion
Measure genetic test completion rate between study arms
Time frame: Sample for testing provided within 45 days of visit without sample failure
Population: Sample failures/test cancellations amongst participants who elected genetic testing
| Arm | Measure | Category | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| In-person Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Blood sample; incomplete genetic test | 0 Participants |
| In-person Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Blood sample; completed genetic test | 83 Participants |
| In-person Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Saliva sample; completed genetic test | 3 Participants |
| In-person Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Saliva sample; incomplete genetic test | 0 Participants |
| Telephone Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Saliva sample; incomplete genetic test | 18 Participants |
| Telephone Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Blood sample; incomplete genetic test | 3 Participants |
| Telephone Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Saliva sample; completed genetic test | 40 Participants |
| Telephone Genetic Counseling | Clinical Outcome Measure of Genetic Testing Completion | Blood sample; completed genetic test | 20 Participants |
Secondary
Number of Participants That Made an Informed Choice
Participants' ability to make an informed choice is assessed by the number of participants that made an informed choice using the Multi-dimensional Model of Informed Choice composite tool that includes understanding of relevant knowledge (1-8 items-higher scores indicate greater knowledge), attitudes toward testing (1-5 items-higher scores represent more positive attitudes), and whether the test decision is congruent with personal values (positive or negative about testing in relation to whether testing was accepted or declined).
Time frame: MMIC survey administered within 7 days post-genetic counseling and genetic testing uptake during scheduled genetic counseling appointment
Population: Participants who completed genetic counseling and all study surveys
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| In-person Genetic Counseling | Number of Participants That Made an Informed Choice | 39 Participants |
| Telephone Genetic Counseling | Number of Participants That Made an Informed Choice | 53 Participants |
Secondary
Patient Reported Outcome of Genetic Counseling-specific Empowerment
Measure change in patient reported genetic counseling-specific empowerment pre and post-genetic counseling using the Genomic Outcome Scale (GOS) scores with minimum and maximum scores of 6 and 30 respectively and higher scores correlated with improved outcomes
Time frame: GOS survey administered within 7 days prior to and post-genetic counseling visit
Population: Participants who completed genetic counseling and all study surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| In-person Genetic Counseling | Patient Reported Outcome of Genetic Counseling-specific Empowerment | -0.21 score on a scale | Standard Deviation 5.34 |
| Telephone Genetic Counseling | Patient Reported Outcome of Genetic Counseling-specific Empowerment | 0.86 score on a scale | Standard Deviation 4.62 |