An interventional study of Modified genetic counseling and Traditional genetic counseling in Hereditary Cancer Syndrome, sponsored by Kaiser Permanente. Completed at 2 sites in United States. Open to participants aged 18 Years to 49 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-09-11.
Sponsored by Kaiser Permanente · Not applicable, Interventional, and Screening
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Among 33 studies in Neoplastic Syndromes, Hereditary with a site in United States — 19 open to participants now, 21 under way, none of them phase 3. Neoplastic Syndromes, Hereditary · United States.
Among the 33 studies in Neoplastic Syndromes, Hereditary with a site in United States, this one is the 6th largest by enrollment of the 18 interventional ones that give a count, is the only one that started in 2018, is one of 17 with no phase, and was the 12th registered.
47 studies on the registry are indexed under Neoplastic Syndromes, Hereditary; 25 are open to participants now.
Browse Neoplastic Syndromes, Hereditary studies →19 of the 33 studies in Neoplastic Syndromes, Hereditary with a site in United States are open now. Recruiting first, the newest first:
Columbia University · Sites in United States
Ages 21–75 · Women only
Columbia University · Sites in United States
Ages 18–55 · Women only · Healthy volunteers
University of Michigan Rogel Cancer Center · Sites in United States
Ages 18+ · Healthy volunteers
Weill Medical College of Cornell University · Sites in United States
Ages 18–55 · Women only
Shwachman-Diamond Syndrome Alliance Inc · Sites in United States
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 20 Neoplastic Syndromes, Hereditary studies recruiting now, 11 (55%) set no upper age limit and 6 (30%) stop at 75 or younger; 7 take children under 18; 9 take healthy volunteers.
This study: 18 Years to 49 Years · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
33 studies; the count open now beside each. This study's row is marked.
First in 1993; this study’s year is marked. 1 started in 2018.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 967 is above the median of 421 across 22 interventional studies indexed under Neoplastic Syndromes, Hereditary.
Median enrollment 588 across the 18 interventional studies, 1,000 across the 15 observational. Of the 11 that completed or were terminated, 3 (27%) have results posted.
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2 of 33 have an industry lead sponsor. The 10 most frequent:
Kaiser Permanente is the lead sponsor of 393 studies on the registry; 43 are open to participants now.
Of its 7 completed or terminated interventional studies of FDA-regulated products, 3 (43%) have results posted.
Kaiser Permanente has 1 study filed under Neoplastic Syndromes, Hereditary — fewer than ten, so there is no comparison to draw.
5 of the studies in Neoplastic Syndromes, Hereditary with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05664867University of Illinois at ChicagoImplementation of Population Cancer Genetic Services in Federally Qualified Health Centers (FQHC) | 2026-12 |
| NCT06096688Weill Medical College of Cornell UniversityDiscovering New Targets for Colorectal and Endometrial Cancer Risk Reduction | 2026-12-31 |
| NCT06654466Nest GenomicsClosing the GAPS: Guideline Adherence, Prevention and Surveillance in Hereditary Cancer | 2027-03 |
| NCT07052266Weill Medical College of Cornell UniversityTrial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening | 2027-06 |
| NCT07053813University of WashingtonApplying Population Management Best Practices to Preventative Genomic Medicine Trial | 2027-07-01 |
Add all 5 to your calendar (.ics) → With an account.
Among the 33 studies in Neoplastic Syndromes, Hereditary with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
The CHARM (Cancer Health Assessment Reaching Many) study will assess the utility of clinical exome sequencing and how it affects care in diverse populations. The study population includes adults at risk for hereditary cancer syndromes.
The primary objective is to implement a hereditary cancer risk assessment program in healthy 18-49 year-olds in primary care settings within a vertically integrated health delivery system (Kaiser Permanente) and a federal qualified health center (Denver Health). The investigators will assess clinical exome sequencing implementation and interpretation, as well as tailored interactions for low health literacy including a contextualized consent process, and a modified approach to results disclosure and genetic counseling. The investigators will also assess the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from clinical exome sequencing, and evaluate the ethical and policy implications of considering personal utility of genomic information decisions for health care coverage.
Aim 1. Implement a hereditary cancer risk-assessment program in healthy 18-49-year-old adults in primary care settings, with stakeholder input, and offer exome sequencing to clarify risk.
Aim 1A. Identify and recruit 880 adult participants at-risk of a hereditary cancer syndrome.
Aim 1B: Generate medical exome sequence data and interpret variants. Aim 1C: Disclose findings from medical exome sequencing, incorporate results into the electronic medical record (EMR), and facilitate downstream patient management and coordination of care with the provider.
Aim 1D. Engage stakeholders to tailor and optimize the program in diverse populations.
Aim 2. Evaluate and tailor for diverse populations the critical interactions in the program, including the consent process, choices for reporting additional findings, and the response to results disclosure.
Aim 2A. Design, implement, and assess a contextualized consent process to support informed decision-making about participation in research about medical exome sequencing.
Aim 2B. Design, implement, and compare a novel decision aid in the second half of the study for selecting the optional categories of additional findings with the approach we developed in CSER1 that offered a category checklist.
Aim 2C. Design, implement, and compare a modified (communication-focused) approach to results disclosure, genetic counseling, and decision making with a standard (information-focused) approach.
Aim 3. Evaluate the clinical utility (including personal utility) of using exome sequencing to diagnose individuals with hereditary cancer syndromes and provide additional findings.
Aim 3A: Measure the yield of reportable findings for hereditary cancer syndromes and additional findings.
Aim 3B: Evaluate subsequent healthcare utilization for all study participants and adherence to recommended care among individuals who are identified with a hereditary cancer syndrome in diverse settings.
Aim 3C. Assess the personal utility of exome sequencing, including primary and additional findings.
Aim 4. Address pragmatic and ethical challenges to the integration of genomic medicine into clinical and health systems decision-making.
Aim 4A: Develop and pilot a system that integrates genomic, clinical, and healthcare utilization data to inform clinicians and patients acting on genomic information and to reduce care gaps in patient management.
Aim 4B: Advance the analysis of the ethical and policy implications of incorporating personal utility of genomic information into the decision framework for healthcare coverage.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This will be typical genetic counseling that a patient would receive in a traditional genetic counseling setting.
Other: Traditional genetic counseling
This will be genetic counseling that is modified for a lower literacy patient and will include fewer technical terms and less complicated genetic information.
Other: Modified genetic counseling
After participants at high risk for a hereditary cancer syndrome receive exome sequencing, they will receive modified genetic counseling to help them understand the results.
After participants at high risk for a hereditary cancer syndrome receive exome sequencing, they will receive traditional genetic counseling to help them understand the results.
Positive Findings for Hereditary Cancer Syndromes
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
Time frame: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.
Positive Findings for Other Medically Actionable Genetic Conditions
Number of people with pathogenic variants found in genes related to medically actionable hereditary conditions (other than cancer)
Time frame: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.
Positive Findings for a Selected List of Carrier Conditions
Number of people with pathogenic variants found in genes related to common carrier conditions
Time frame: For each person, the test result was available within approximately one month of the receipt of that person's specimen at the laboratory.
Number of Participants With Healthcare Utilization Measured Via Electronic Medical Record (EMR) Data
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.
Time frame: Within 12 months of participant receiving information about their hereditary cancer syndrome risk
Participant Understanding of Recommended Care
Measurement of participant's understanding of the recommended care based on their genetic test result will be assessed using a validated survey tool
Time frame: 2 weeks post result disclosure, 6 months post result disclosure
Participant Understanding of Genetic Test Results
"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.
Time frame: 2 weeks post genetic result disclosure
Participant Satisfaction of Genetic Counseling
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.
Time frame: 2 weeks post genetic results disclosure
Family Communication
Measurement of the degree to which participants shared their genetic test results with various family members will be assessed using a validated survey tool
Time frame: Assessed 6 months post result disclosure
Personal Utility of Genomic Sequencing (Qualitative Interview Only)
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.
Time frame: Qualitative interviews were conducted within 1 month of results disclosure; a subset of these participants were interviewed again at 6 months post-results disclosure.
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.
| Milestone | People Were Eligible and Consented |
|---|---|
| Started | 967 |
| Submitted a sample for testing | 827 |
| Total who received results | 696 |
| Received results in "traditional genetic counseling" arm | 344 |
| Received results in "modified genetic counseling" arm | 352 |
| Completed | 582 |
| Not completed | 385 |
| Withdrew: Did not return saliva sample to laboratory | 126 |
| Withdrew: Dna extraction and sequencing was not successful | 14 |
| Withdrew: Declined to receive results | 3 |
| Withdrew: Received negative results by mailed letter | 65 |
| Withdrew: Lost to follow-up | 177 |
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
| Participants | Participants With a Viable Sample |
|---|---|
| P/LP variant associated w breast and/or ovarian cancer risk | 28 |
| P/LP variant associated with colon cancer risk | 8 |
| P/LP variant associated with cancer risk but not with breast, ovarian, colon, or endometrial cancer | 4 |
| No variant associated with cancer risk found | 787 |
Number of people with pathogenic variants found in genes related to medically actionable hereditary conditions (other than cancer)
| Participants | Participants With a Viable Sample |
|---|---|
| Positive Findings for Other Medically Actionable Genetic Conditions | 9 |
Number of people with pathogenic variants found in genes related to common carrier conditions
| Participants | Participants Who Consented to "Additional Genetic Findings" |
|---|---|
| Positive Findings for a Selected List of Carrier Conditions | 55 |
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.
| Participants | Participants With an Actionable Risk Management Recommendation | Participants Without an Actionable Risk Management Recommendation |
|---|---|---|
| Number of Participants With Healthcare Utilization Measured Via Electronic Medical Record (EMR) Data | 6 | 153 |
Measurement of participant's understanding of the recommended care based on their genetic test result will be assessed using a validated survey tool
No measurements were reported for this outcome.
"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.
| score on a scale | Traditional Genetic Counseling | Modified Genetic Counseling |
|---|---|---|
| Participant Understanding of Genetic Test Results | 4.38 (4.31 to 4.44) | 4.42 (4.35 to 4.49) |
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.
| score on a scale | Traditional Genetic Counseling | Modified Genetic Counseling |
|---|---|---|
| Communication ease score | 4.68 (4.62 to 4.73) | 4.70 (4.64 to 4.75) |
| Communication difficulty score | 1.82 (1.72 to 1.92) | 1.83 (1.74 to 1.92) |
| Genetic counseling relationship score | 4.29 (4.22 to 4.35) | 4.37 (4.32 to 4.43) |
Measurement of the degree to which participants shared their genetic test results with various family members will be assessed using a validated survey tool
| Participants | Participants Who Received Genetic Test Results and Completed Certain Survey Questions |
|---|---|
| Family Communication | 466 |
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.
Results for this outcome have not been posted.
Collected over N/a. Adverse event data was not collected for this study. This data would not result from the CHARM study procedures. The IRB did not require adverse event data collection.. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| All Enrolled Participants | — | — | — |
| Age, Continuous(years) | Baseline Participants |
|---|---|
| Mean | 36.1 ± 8.2 |
| Sex: Female, Male(Participants) | Baseline Participants |
|---|---|
| Female | 759 |
| Male | 208 |
| Race/Ethnicity, Customized(Participants) | Baseline Participants |
|---|---|
| Asian, non-Hispanic | 53 |
| Black or African American, non-Hispanic | 57 |
| Hispanic/Latino(a) | 337 |
| White or European American, non-Hispanic | 438 |
| Selected multiple racial categories, non-Hispanic | 47 |
| Selected another racial category | 28 |
| Unknown | 7 |
| Household income(Participants) | Baseline Participants |
|---|---|
| Less than $60,000 per year | 489 |
| $60,000 to less than $100,000 per year | 200 |
| $100,000 or greater per year | 141 |
| Unknown/missing | 137 |
| Education level(Participants) | Baseline Participants |
|---|---|
| Less than high school graduate | 103 |
| High school graduate or equivalent | 89 |
| Some post-high school training | 186 |
| Associate (2-year) college or occupational, technical, or vocational program degree | 123 |
| Bachelor's degree (for example: BA, AB, BS) | 201 |
| Graduate or professional degree (for example: MA, MBA, JD, MD, PhD) | 136 |
| Unknown/missing | 129 |
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: Yes — Genotype and Phenotype data will be uploaded to ANVIL. Variant data will be uploaded to ClinVar.
Time frame: Data will be loaded to ANVIL and ClinVar at least annually beginning in 2018.
Access criteria: Subject to ANVIL and ClinVar regulations.
Data sharing details ↗ · www.genome.gov
Ran from Aug 2018 to primary completion in Aug 2020, 24 months.
Results were first posted in Sep 2025, 5 years after primary completion.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Mar 2025. You cannot join it, but the record below documents what was studied.
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Neoplastic Syndromes, Hereditary →