Evaluation of Provider vs. Patient Mediated Cascade Genetic Testing of First-Degree Relatives of Patients With Newly Diagnosed Colorectal Cancer
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 4,186
- 试验地点
- 321
- 主要终点
- Proportion of eligible first-degree relatives (FDRs) of the affected proband who underwent genetic testing
研究概览
简要总结
This clinical trial compares patient (proband)-mediated communication to provider-mediated communication for improving genetic testing in first-degree relatives of patients with newly diagnosed colorectal cancer. It is estimated that 30% of cases of colorectal cancer have a genetic basis and about 15% of these patients have a disease-causing (pathogenic) inherited (germline) variant in a cancer susceptibility gene. Most individuals carrying a pathogenic germline variant are unaware of their cancer risk and may not meet guidelines for genetic testing. Identifying pathogenic germline variants or hereditary cancer syndromes in cancer patients has important implications for their at-risk relatives who may not know that they are at high risk for cancer. The burden of communicating this risk to first-degree relatives often falls on the patients, who may lack sufficient knowledge to correctly share and explain their genetic test results. Receiving provider-mediated communication of genetic testing results may be more effective at communicating genetic risk to first-degree relatives than the usual practice of proband-mediated communication.
详细描述
PRIMARY OBJECTIVES:
I. To compare the proportion of first-degree relatives (FDRs) of probands with Lynch Syndrome who undergo germline testing in the provider-mediated arm (Arm B) versus the proband-mediated (Arm A) at 6 months.
II. To compare the proportion of FDRs of proband with a non-Lynch pathogenic germline variant who undergo germline testing in the provider-mediated arm (Arm B) versus the proband-mediated arm (Arm A) at 6 months.
SECONDARY OBJECTIVE:
I. To compare the proportion of FDRs with a pathogenic germline variant (PGV) who underwent disease prevention efforts at 12 months between the provider-mediated arm (Arm B) and the proband-mediated cascade testing arm (Arm A).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •STEP 1 PROBANDS: Age >= 18 years
- •STEP 1 PROBANDS: Patients with a newly diagnosed (within 3 months of registration), primary colorectal adenocarcinoma, stage I to IV
- •Histologically proven stage I to IV colon or rectal adenocarcinoma (any T or N, M+). Tumors deemed to originate in the colon can extend into/involve the small bowel (e.g., those at the ileocecal valve). Tumors will be regarded as originating in the colon if the entire tumor is in the colon. In the case of rectal involvement, the cancer will be considered a rectal primary
- •Patients with more than one primary colon adenocarcinoma are eligible
- •STEP 1 PROBANDS: No patients with stage 0 or in-situ colorectal cancer
- •STEP 1 PROBANDS: Patients who have had prior malignancies are eligible, including non-invasive cancers
- •STEP 1 PROBANDS: Patients with synchronous second malignancies are eligible
- •STEP 1 PROBANDS: Have not received germline testing in the 2 years prior to enrollment or known hereditary colon cancer syndromes
- •STEP 1 PROBANDS: Patients must have at least 2 living FDRs who meet the eligibility criteria, with whom the patient is willing to share their cancer diagnosis
- •STEP 1 PROBANDS: In order to complete the mandatory patient-completed measures and view the video and receive genetic education and counseling, participants must be able to speak and read English or Spanish
- •STEP 1 PROBANDS: No known diagnosis of dementia or cognitive impairment. Persons with impaired decision-making capacity are ineligible as they need to be able to understand genetic test results, its implications for the patient and family, and explain genetic test results to their family members
- •* No persons with a known psychiatric or documented developmental disorder that affects cognitive or emotional functions to the extent that the capacity for judgment and reason is significantly diminished, such that they cannot participate based on the judgment of the treating physician
- •STEP 2 PROBANDS: Probands positive for a pathogenic germline variant (PGV) in a cancer susceptibility gene
- •FDRs: Age >= 18 years
- •FDRs: Have not previously received germline genetic testing or known hereditary colon cancer syndromes
- •FDRs: FDRs must reside within the United States, as genetic testing from LabCorp is only available to United States (U.S.) residents
- •FDRs: In order to complete the mandatory patient-completed measures, participants must be able to speak and read English or Spanish
排除标准
- 未提供
研究组 & 干预措施
Step 1 (biospecimen collection, genetic testing)
Probands undergo collection of blood samples and genetic testing on study.
干预措施: Biospecimen Collection (Procedure)
Step 2, Arm B (provider-mediated)
FDRs receive provider-mediated communication about the proband's genetic testing results.
干预措施: Survey Administration (Other)
Step 2, Arm A (proband-mediated)
FDRs receive proband-mediated communication about the proband's genetic testing results.
干预措施: Survey Administration (Other)
Step 2, Arm B (provider-mediated)
FDRs receive provider-mediated communication about the proband's genetic testing results.
干预措施: Communication Intervention (Other)
Step 1 (biospecimen collection, genetic testing)
Probands undergo collection of blood samples and genetic testing on study.
干预措施: Genetic Testing (Other)
Step 2, Arm A (proband-mediated)
FDRs receive proband-mediated communication about the proband's genetic testing results.
干预措施: Communication Intervention (Other)
结局指标
主要结局
Proportion of eligible first-degree relatives (FDRs) of the affected proband who underwent genetic testing
时间窗: Within 6 months of proband randomization
This is a binary outcome. To test for a between-arm difference in the proportion of eligible FDRs receiving genetic testing, the primary analysis will apply a mixed-effects logistic regression model to account for between-family variability or equivalently the within family correlation. The mixed-effects logistic regression model will be applied separately within the subset of families who are associated with a proband who has Lynch syndrome (LS), and within the subset of families who are associated with a proband who harbors non-LS pathogenic germline variants (PGVs).
Proportion of eligible first-degree relatives (FDRs) of the affected proband who underwent genetic testing
时间窗: Within 6 months of proband randomization
This is a binary outcome. To test for a between-arm difference in the proportion of eligible FDRs receiving genetic testing, the primary analysis will apply a mixed-effects logistic regression model to account for between-family variability or equivalently the within family correlation. The mixed-effects logistic regression model will be applied separately within the subset of families who are associated with a proband who has Lynch syndrome (LS), and within the subset of families who are associated with a proband who harbors non-LS pathogenic germline variants (PGVs).
次要结局
- Proportion of eligible FDRs with a PGV undergoing disease prevention efforts(Within 12 months of proband randomization)
- Proportion of eligible FDRs with a PGV undergoing disease prevention efforts(Within 12 months of proband randomization)