Exome Sequencing in Diverse Populations in Colorado & Oregon
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 967
- 试验地点
- 4
- 主要终点
- Positive Findings for Hereditary Cancer Syndromes
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- Single (Participant)
盲法说明
The participant will not know if they are receiving traditional or modified genetic counseling.
入排标准
- 年龄范围
- 18 Years 至 49 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Positive Findings for Hereditary Cancer Syndromes
时间窗: 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 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
次要结局
- Participant Understanding of Recommended Care(2 weeks post result disclosure, 6 months post result disclosure)
- Positive Findings for Other Medically Actionable Genetic Conditions(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(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(Within 12 months of participant receiving information about their hereditary cancer syndrome risk)
- Participant Understanding of Genetic Test Results(2 weeks post genetic result disclosure)
- Participant Satisfaction of Genetic Counseling(2 weeks post genetic results disclosure)
- Family Communication(Assessed 6 months post result disclosure)
- Personal Utility of Genomic Sequencing (Qualitative Interview Only)(Qualitative interviews were conducted within 1 month of results disclosure; a subset of these participants were interviewed again at 6 months post-results disclosure.)