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Trial record 4 of 198 for:    Genetic AND exome sequencing

Cancer Health Assessments Reaching Many (CHARM)

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ClinicalTrials.gov Identifier: NCT03426878
Recruitment Status : Recruiting
First Posted : February 8, 2018
Last Update Posted : September 11, 2018
Sponsor:
Collaborators:
National Human Genome Research Institute (NHGRI)
University of Washington
Seattle Children's Hospital
Stanford University
University of California, San Francisco
Denver Health and Hospital Authority
Emory University
Dana-Farber Cancer Institute
Information provided by (Responsible Party):
Kaiser Permanente

Brief Summary:

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 18-50 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.


Condition or disease Intervention/treatment Phase
Hereditary Cancer Syndrome Other: Modified genetic counseling Other: Traditional genetic counseling Not Applicable

Detailed Description:

Aim 1. Implement a hereditary cancer risk-assessment program in healthy 18-50-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.

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Aim 3. Evaluate the clinical utility (including personal utility) and cost 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.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 880 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Intervention Model Description: All participants will receive exome sequencing. The randomization will be into one of two types of genetic counseling - traditional and modified.
Masking: Single (Participant)
Masking Description: The participant will not know if they are receiving traditional or modified genetic counseling.
Primary Purpose: Screening
Official Title: Exome Sequencing in Diverse Populations in Colorado & Oregon
Actual Study Start Date : August 15, 2018
Estimated Primary Completion Date : May 31, 2020
Estimated Study Completion Date : May 31, 2021

Resource links provided by the National Library of Medicine


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.




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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

  2. 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

  3. 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, including healthcare encounters (e.g., outpatient visits, mental health related visits, and genetic counseling visits) and variables measuring the occurrence of specific procedures (e.g., colonoscopy, mammography), 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)

  4. Participant understanding of recommended care [ Time Frame: 2 weeks post result disclosure, 3 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

  5. Participant understanding of genetic test results [ Time Frame: 2 weeks post result disclosure, 3 months post result disclosure ]
    Measurement of patient's understanding of the genetic test results will be assessed using a validated survey tool

  6. Participant satisfaction of genetic counseling [ Time Frame: 2 weeks post result disclosure, 3 months post result disclosure ]
    Measurement of the patient's satisfaction of genetic counseling will be assessed using a validated survey tool

  7. Family communication [ Time Frame: Baseline, 2 weeks post result disclosure, 3 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

  8. Personal utility [ Time Frame: Baseline, 2 weeks post result disclosure, 3 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.



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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 personal mutation that predisposes them to Lynch syndrome or hereditary breast and ovarian cancer
  • English or Spanish speaker

Exclusion Criteria:

  • Known personal mutation
  • Not an English or Spanish speaker
  • Unable to provide informed consent
  • Don't want results placed in their medical record

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03426878


Contacts
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Contact: Tia L Kauffman, MPH 503-335-6792 tia.l.kauffman@kpchr.org

Locations
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United States, Colorado
Denver Health Recruiting
Denver, Colorado, United States, 80204
Contact: Katherine P Anderson, MD    303-294-0896    katherine.anderson@dhha.org   
Principal Investigator: Katherine P Anderson, MD         
United States, Oregon
Center for Health Research, Kaiser Permanente Northwest Recruiting
Portland, Oregon, United States, 97227
Contact: Katrina AB Goddard, PhD    503-335-6353    katrina.ab.goddard@kpchr.org   
Principal Investigator: Katrina AB Goddard, PhD         
Sponsors and Collaborators
Kaiser Permanente
National Human Genome Research Institute (NHGRI)
University of Washington
Seattle Children's Hospital
Stanford University
University of California, San Francisco
Denver Health and Hospital Authority
Emory University
Dana-Farber Cancer Institute
Investigators
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Principal Investigator: Katrina AB Goddard, PhD Center for Health Research, Kaiser Permanente Northwest
Principal Investigator: Benjamin S Wilfond, MD Seattle Children's Hospital

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Responsible Party: Kaiser Permanente
ClinicalTrials.gov Identifier: NCT03426878     History of Changes
Other Study ID Numbers: 2U01HG007292-05 ( U.S. NIH Grant/Contract )
2U01HG007292-05 ( U.S. NIH Grant/Contract )
First Posted: February 8, 2018    Key Record Dates
Last Update Posted: September 11, 2018
Last Verified: September 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Genotype and Phenotype data will be uploaded to dbGaP. Variant data will be uploaded to ClinVar.
Time Frame: Data will be loaded to dbGaP and ClinVar at least annually beginning in 2018.
Access Criteria: Subject to dbGap and ClinVar regulations.
URL: https://www.ncbi.nlm.nih.gov/gap

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Kaiser Permanente:
Lynch syndrome
Hereditary breast and ovarian cancer

Additional relevant MeSH terms:
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Neoplastic Syndromes, Hereditary
Neoplasms
Genetic Diseases, Inborn