Cancer Health Assessments Reaching Many (CHARM)

June 7, 2022 updated by: Kaiser Permanente

Exome Sequencing in Diverse Populations in Colorado & Oregon

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Interventional

Enrollment (Actual)

967

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Colorado
      • Denver, Colorado, United States, 80204
        • Denver Health
    • Oregon
      • Portland, Oregon, United States, 97227
        • Kaiser Permanente Center For Health Research

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 49 years (Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Kaiser Permanente Northwest or Denver Health patient
  • Screens as high risk for a hereditary cancer syndrome via the risk assessment tool algorithms OR have unknown family history on either their mother or father's side of the family (or both)
  • No known prior testing for familial mutations predisposing them to Lynch syndrome or hereditary breast and ovarian cancer
  • English or Spanish speaker

Exclusion Criteria:

  • Participant self-reported prior testing for Lynch syndrome (LS) or Hereditary Breast and Ovarian Cancer (HBOC) syndrome or identified as having previous comprehensive testing via Kaiser Permanente data files
  • Not an English or Spanish speaker
  • Unable to provide informed consent
  • Don't want results placed in their medical record

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Screening
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: Single

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Active Comparator: Traditional genetic counseling
This will be typical genetic counseling that a patient would receive in a traditional genetic counseling setting.
Other: Traditional genetic counseling
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.
Experimental: Modified 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Positive findings for hereditary cancer syndromes
Time Frame: Within one month of specimen receipt at the laboratory
Number of people found to have a pathogenic variant in one of the cancer genes associated with Lynch syndrome or hereditary breast and ovarian cancer
Within one month of specimen receipt at the laboratory

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Positive findings for other medically actionable genetic conditions
Time Frame: Within one month of specimen receipt at the laboratory
Number of people with pathogenic variants found in genes related to medically actionable hereditary conditions
Within one month of specimen receipt at the laboratory
Positive findings for a selected list of carrier conditions
Time Frame: Within one month of specimen receipt at the laboratory
Number of people with pathogenic variants found in genes related to common carrier conditions
Within one month of specimen receipt at the laboratory
Comparison of Healthcare Utilization measured via Electronic Medical Record (EMR) data
Time Frame: Within 12 months of participant receiving information about their hereditary cancer syndrome risk
Downstream healthcare utilization of specific recommended procedures (e.g., colonoscopy, mammography, surgery) will be compared between participants in the traditional genetic counseling arm, the modified genetic counseling arm, and patients at high risk for a hereditary cancer syndrome that do not join the study (usual care)
Within 12 months of participant receiving information about their hereditary cancer syndrome risk
Participant understanding of recommended care
Time Frame: 2 weeks post result disclosure, 6 months post result disclosure
Measurement of participant's understanding of the recommended care based on their genetic test result will be assessed using a validated survey tool
2 weeks post result disclosure, 6 months post result disclosure
Participant understanding of genetic test results
Time Frame: 2 weeks post result disclosure, 6 months post result disclosure
Measurement of patient's understanding of the genetic test results will be assessed using a validated survey tool
2 weeks post result disclosure, 6 months post result disclosure
Participant satisfaction of genetic counseling
Time Frame: 2 weeks post result disclosure, 6 months post result disclosure
Measurement of the patient's satisfaction of genetic counseling will be assessed using a validated survey tool
2 weeks post result disclosure, 6 months post result disclosure
Family communication
Time Frame: Baseline, 2 weeks post result disclosure, 6 months post result disclosure
Measurement of the degree to which participants shared their genetic test results with various family members will be assessed using a validated survey tool
Baseline, 2 weeks post result disclosure, 6 months post result disclosure
Personal utility
Time Frame: Baseline, 2 weeks post result disclosure, 6 months post result disclosure
Measurement of the participant's perceived utility of obtaining genetic testing and counseling will be assessed using validated survey tools that assess lifestyle behaviors and self-reported health/quality of life.
Baseline, 2 weeks post result disclosure, 6 months post result disclosure

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Kaiser Permanente

Collaborators

Dana-Farber Cancer Institute
Columbia University
Emory University
University of Washington
Seattle Children's Hospital
University of California, San Francisco
National Human Genome Research Institute (NHGRI)
Denver Health and Hospital Authority

Investigators

  • Principal Investigator: Michael Leo, PhD, Center for Health Research, Kaiser Permanente Northwest
  • Principal Investigator: Benjamin S Wilfond, MD, Seattle Children's Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 15, 2018

Primary Completion (Anticipated)

August 1, 2022

Study Completion (Anticipated)

December 31, 2023

Study Registration Dates

First Submitted

January 11, 2018

First Submitted That Met QC Criteria

February 2, 2018

First Posted (Actual)

February 8, 2018

Study Record Updates

Last Update Posted (Actual)

June 8, 2022

Last Update Submitted That Met QC Criteria

June 7, 2022

Last Verified

June 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2U01HG007292-05 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Genotype and Phenotype data will be uploaded to ANVIL. Variant data will be uploaded to ClinVar.

IPD Sharing Time Frame

Data will be loaded to ANVIL and ClinVar at least annually beginning in 2018.

IPD Sharing Access Criteria

Subject to ANVIL and ClinVar regulations.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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