Trial Outcomes & Findings for Cancer Health Assessments Reaching Many (NCT NCT03426878)

NCT ID: NCT03426878

Last Updated: 2025-09-11

Results Overview

Number of people found to have a pathogenic (P) or likely pathogenic (LP) variant in one of the cancer genes associated with Lynch syndrome or hereditary breast and ovarian cancer

• Recruitment status: COMPLETED
• Study phase: NA
• Target enrollment: 967 participants
• Primary outcome timeframe: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.
• Results posted on: 2025-09-11

Participant Flow

Recruitment took place between August 2018 and August 2020 through email, text, and post-cards. Interested patients between 18 and 49 years completed a web-based family history risk assessment to determine eligibility. Participants who screened as high risk were provided with the options to receive exome based panel testing through the study. Participants who consented were provided a saliva sample collection kit that could be returned by mail or to their clinic.

967 people were eligible and consented. Of those, 827 submitted a sample for testing. 131 of those people were lost to follow up, declined to receive results, or received a mailed letter with their results. Every outcome measure defined a different analytic sample. Randomization was implemented for only one of the study aims and only applies to outcome measures 6 and 7. Randomization occurred after test results were available.

Participant milestones

Measure	People Were Eligible and Consented All individuals eligible and consent for the study
Overall Study STARTED	967
Overall Study Submitted a Sample for Testing	827
Overall Study Total Who Received Results	696
Overall Study Received Results in "Traditional Genetic Counseling" Arm	344
Overall Study Received Results in "Modified Genetic Counseling" Arm	352
Overall Study COMPLETED	582
Overall Study NOT COMPLETED	385

Reasons for withdrawal

Measure	People Were Eligible and Consented All individuals eligible and consent for the study
Overall Study Did not return saliva sample to laboratory	126
Overall Study DNA extraction and sequencing was not successful	14
Overall Study Declined to receive results	3
Overall Study Received negative results by mailed letter	65
Overall Study Lost to Follow-up	177

Baseline Characteristics

Cancer Health Assessments Reaching Many

Baseline characteristics by cohort

Measure	Baseline Participants n=967 Participants All participants who were eligible and consented
Age, Continuous	36.1 years STANDARD_DEVIATION 8.2 • n=5 Participants
Sex: Female, Male Female	759 Participants n=5 Participants
Sex: Female, Male Male	208 Participants n=5 Participants
Race/Ethnicity, Customized Asian, non-Hispanic	53 Participants n=5 Participants
Race/Ethnicity, Customized Black or African American, non-Hispanic	57 Participants n=5 Participants
Race/Ethnicity, Customized Hispanic/Latino(a)	337 Participants n=5 Participants
Race/Ethnicity, Customized White or European American, non-Hispanic	438 Participants n=5 Participants
Race/Ethnicity, Customized Selected multiple racial categories, non-Hispanic	47 Participants n=5 Participants
Race/Ethnicity, Customized Selected another racial category	28 Participants n=5 Participants
Race/Ethnicity, Customized Unknown	7 Participants n=5 Participants
Household income Less than $60,000 per year	489 Participants n=5 Participants
Household income $60,000 to less than $100,000 per year	200 Participants n=5 Participants
Household income $100,000 or greater per year	141 Participants n=5 Participants
Household income Unknown/missing	137 Participants n=5 Participants
Education level Less than high school graduate	103 Participants n=5 Participants
Education level High school graduate or equivalent	89 Participants n=5 Participants
Education level Some post-high school training	186 Participants n=5 Participants
Education level Associate (2-year) college or occupational, technical, or vocational program degree	123 Participants n=5 Participants
Education level Bachelor's degree (for example: BA, AB, BS)	201 Participants n=5 Participants
Education level Graduate or professional degree (for example: MA, MBA, JD, MD, PhD)	136 Participants n=5 Participants
Education level Unknown/missing	129 Participants n=5 Participants

PRIMARY outcome

Timeframe: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.

Population: CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed. There was no randomization, and therefore no separate "arms" for this analysis.

Number of people found to have a pathogenic (P) or likely pathogenic (LP) variant in one of the cancer genes associated with Lynch syndrome or hereditary breast and ovarian cancer

Outcome measures

Measure	Participants With a Viable Sample n=827 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Positive Findings for Hereditary Cancer Syndromes P/LP variant associated w breast and/or ovarian cancer risk	28 Participants	—
Positive Findings for Hereditary Cancer Syndromes P/LP variant associated with colon cancer risk	8 Participants	—
Positive Findings for Hereditary Cancer Syndromes P/LP variant associated with cancer risk but not with breast, ovarian, colon, or endometrial cancer	4 Participants	—
Positive Findings for Hereditary Cancer Syndromes No variant associated with cancer risk found	787 Participants	—

SECONDARY outcome

Timeframe: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.

Population: 827 is the number of CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed. There was no randomization, and therefore no separate "arms" for this analysis.

Number of people with pathogenic variants found in genes related to medically actionable hereditary conditions (other than cancer)

Outcome measures

Measure	Participants With a Viable Sample n=827 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Positive Findings for Other Medically Actionable Genetic Conditions	9 Participants	—

SECONDARY outcome

Timeframe: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.

Population: 810 is the number of CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, affirmatively chose to receive "additional findings", and sequencing was completed. Samples from participants who did not choose additional findings were not tested for carrier conditions. There was no randomization, and therefore no separate "arms" for this analysis. .

Number of people with pathogenic variants found in genes related to common carrier conditions

Outcome measures

Measure	Participants With a Viable Sample n=810 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Positive Findings for a Selected List of Carrier Conditions	55 Participants	—

SECONDARY outcome

Timeframe: Within 12 months of participant receiving information about their hereditary cancer syndrome risk

Population: For this analysis participants were not pre-specified to be separated by type of genetic counseling administered. The analysis sample excluded participants: 1) inadequate exome sequencing sample; 2) died or disenrolled before result disclosure; 3) for each procedure (e.g. mammography, colonoscopy, risk-reducing mastectomy ) individuals without relevant organ(s) at study entry. 4) Except for colonoscopy, those who did not reported their sex at birth as female.

Downstream healthcare utilization of specific recommended procedures (e.g., colonoscopy, mammography, surgery) will be compared between CHARM participants who received at least one actionable risk management recommendation from study genetic counselors and those who did not receive an actionable risk management recommendation.

Outcome measures

Measure	Participants With a Viable Sample n=12 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation n=668 Participants Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Number of Participants With Healthcare Utilization Measured Via Electronic Medical Record (EMR) Data	6 Participants	153 Participants

SECONDARY outcome

Timeframe: 2 weeks post result disclosure, 6 months post result disclosure

Population: The study determined that collecting the data on this secondary outcome was not feasible and did not include these questions on surveys or interviews. We did not analyze this outcome.

Measurement of participant's understanding of the recommended care based on their genetic test result will be assessed using a validated survey tool

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 2 weeks post genetic result disclosure

Population: Of the 827 patients with samples sequenced, 352 received results using modified genetic counseling and 344 received results using traditional genetic counseling. A total of 65 patients received their negative results by mailed letter, 3 declined to receive results, and 63 were lost to follow up. Of the 696 patients randomized, 582 completed the post-results survey. Of these 582, 571 provided the responses required for inclusion in this analysis.

"Perceived understanding of results" This novel 5-item measure asked, "Thinking about only your cancer genetic test result, please rate how strongly you agree or disagree with each of the following statements." The 5 items were assessed on a 5-point Likert scale (1 = strongly disagree to 5 = strongly agree). A principal-axis factor analysis strongly supported a 1 factor solution (accounting for 65.4% of the variance in these items), providing evidence for structural validity, and a Cronbach's α of 0.90, providing strong evidence for internal consistency. The scale was scored using the mean; thus, the possible scores can range from 1 to 5, with higher scores indicating greater understanding.

Outcome measures

Measure	Participants With a Viable Sample n=290 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation n=281 Participants Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Participant Understanding of Genetic Test Results	4.38 score on a scale Interval 4.31 to 4.44	4.42 score on a scale Interval 4.35 to 4.49

SECONDARY outcome

Timeframe: 2 weeks post genetic results disclosure

Population: The number analyzed in each row differs from overall number analyzed because some participants did not respond to all questions in the survey resulting in missing data. For each analysis we used all available data.

This novel measure consisted of 4 items adapted from the Patient Assessment of Communication Effectiveness scale, 8 items developed by the consortium related to participants' overall satisfaction with the results and experience of results disclosures, and 6 items that focused on key elements of modified genetic counseling. Items were measured on a 5-point Likert scale (1 = strongly disagree to 5 = strongly agree). Using principal-axis factor analyses using oblique rotation, we found the 3-factor solution (accounting for 62.5% of the variance in the items) to provide adequate simple structure with conceptually meaningful factors and thus, created subscale scores for each set of items (6 loaded on each factor): "genetic counseling relationship score", "communication difficulty score", and "communication ease score". The possible mean scores can range from 1 to 5, with higher scores indicating a better outcome.

Outcome measures

Measure	Participants With a Viable Sample n=296 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation n=286 Participants Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Participant Satisfaction of Genetic Counseling Communication ease score	4.68 score on a scale Interval 4.62 to 4.73	4.70 score on a scale Interval 4.64 to 4.75
Participant Satisfaction of Genetic Counseling Communication difficulty score	1.82 score on a scale Interval 1.72 to 1.92	1.83 score on a scale Interval 1.74 to 1.92
Participant Satisfaction of Genetic Counseling Genetic counseling relationship score	4.29 score on a scale Interval 4.22 to 4.35	4.37 score on a scale Interval 4.32 to 4.43

SECONDARY outcome

Timeframe: Assessed 6 months post result disclosure

Population: For this analysis, participants were not pre-specified to be separated by type of genetic counseling administered. Survey data from 562 CHARM participants who received genetic test results and completed survey questions on family communication were available for analysis.

Measurement of the degree to which participants shared their genetic test results with various family members will be assessed using a validated survey tool

Outcome measures

Measure	Participants With a Viable Sample n=562 Participants CHARM participants who were sent a saliva collection kit, returned their sample to the laboratory, had successful DNA extraction, and sequencing was completed.	Participants Without an Actionable Risk Management Recommendation Participants who did not receive at least one actionable risk management recommendation from study genetic counselors
Family Communication	466 Participants	—

SECONDARY outcome

Timeframe: Qualitative interviews were conducted within 1 month of results disclosure; a subset of these participants were interviewed again at 6 months post-results disclosure.

Participant's perceived utility of obtaining genetic testing and genetic counseling were assessed. Data collection used semi-structured qualitative interviews. Analyses were conducted using a modified grounded theory approach and explored the five utility domains of the model: clinical, emotional, behavioral, cognitive, and social. The analysis examined how well this multifaceted perceived utility model applied to the responses provided during the interviews. The qualitative data was not quantified in any way and can not be represented in a tabular format.

Outcome measures

Outcome data not reported

Adverse Events

All Enrolled Participants

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Joanna Bulkley, PhD

Kaiser Permanente Center for Health Research

Phone: 5033352400

Email: joanna.e.bulkley@kpchr.org

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place