Family Communications After Genetic Testing

NCT ID: NCT07143487

Last Updated: 2025-09-16

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 4186 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-11-05
• Study Completion Date: 2032-11-05

Brief Summary

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.

Detailed Description

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).

EXPLORATORY OBJECTIVES:

I. To assess differences in percentages of cascade genetic testing within the following proband subgroups: race/ethnicity (non-Hispanic whites; other race/ethnicities), sex (females; males), age (>= 50; < 50), tumor location (colon; rectal), tumor stage (stage I-II; stage III-IV), geographic location (urban; rural), and receipt of medical care in an academic versus (vs.) community setting.

III. To determine the prevalence and spectrum of pathogenic germline variants in cancer susceptibility genes by analysis of results of upfront germline testing in a multi-site cancer cooperative group study population with newly diagnosed CRC.

IV. Assess the pattern of accrual of demographic patient subgroups including racial/ethnic minority and rural individuals at the initial 50% of accrual enrolled and at the end of the trial.

V. To compare disease-free survival (DFS) of the proband at 3 years between the direct-contact arm (Arm B) and the proband-directed cascade testing arm (Arm A).

V. To evaluate the completion rate of a Social Determinants of Health questionnaire with patient directed questions .

OUTLINE:

STEP 1: Patients (probands) undergo collection of blood samples and genetic testing on study.

STEP 2: Probands with pathogenic or likely pathogenic germline variants and their FDRs are randomized to 1 of 2 arms.

ARM A: FDRs receive proband-mediated communication about the proband's genetic testing results.

ARM B: FDRs receive provider-mediated communication about the proband's genetic testing results.

Probands are followed for up to 3 years and FDRs are followed for up to 1 year

Conditions

Colon Adenocarcinoma; Colorectal Adenocarcinoma; Rectal Adenocarcinoma; Stage I Colon Cancer AJCC v8; Stage I Colorectal Cancer AJCC v8; Stage I Rectal Cancer AJCC v8; Stage II Colon Cancer AJCC v8; Stage II Colorectal Cancer AJCC v8; Stage II Rectal Cancer AJCC v8; Stage III Colon Cancer AJCC v8; Stage III Colorectal Cancer AJCC v8; Stage III Rectal Cancer AJCC v8; Stage IV Colon Cancer AJCC v8; Stage IV Colorectal Cancer AJCC v8; Stage IV Rectal Cancer AJCC v8

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

Step 1 (biospecimen collection, genetic testing)

Probands undergo collection of blood samples and genetic testing on study.

Group Type: EXPERIMENTAL

Biospecimen Collection

Intervention Type: PROCEDURE

Undergo collection of blood samples

Genetic Testing

Intervention Type: OTHER

Undergo genetic testing

Step 2, Arm A (proband-mediated)

FDRs receive proband-mediated communication about the proband's genetic testing results.

Group Type: ACTIVE_COMPARATOR

Communication Intervention

Intervention Type: OTHER

Receive proband-mediated communication

Survey Administration

Intervention Type: OTHER

Ancillary studies

Step 2, Arm B (provider-mediated)

FDRs receive provider-mediated communication about the proband's genetic testing results.

Group Type: EXPERIMENTAL

Communication Intervention

Intervention Type: OTHER

Receive proband-mediated communication

Survey Administration

Intervention Type: OTHER

Ancillary studies

Interventions

Biospecimen Collection

Undergo collection of blood samples

Intervention Type: PROCEDURE

Genetic Testing

Undergo genetic testing

Intervention Type: OTHER

Communication Intervention

Receive proband-mediated communication

Intervention Type: OTHER

Survey Administration

Ancillary studies

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

-

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

Alliance for Clinical Trials in Oncology

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Frank A Sinicrope

Role: STUDY_CHAIR

Alliance for Clinical Trials in Oncology

Central Contacts

Rachel Wills

Role: CONTACT

rwills@bsd.uchicago.edu

773-702-9814

Other Identifiers

A212101

Identifier Type: -

Identifier Source: org_study_id