Family Communications After Genetic Testing

NCT07143487 | Not Yet Recruiting DMC

• 1 other identifier: A212101
• Study Type: interventional
• Target: 4,186
• Locations: 0 countries
• Sites: N/A

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.

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

Outcome Measures

Primary Outcomes (1)

• Proportion of eligible first-degree relatives (FDRs) of the affected proband who underwent genetic testing

  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).

  Within 6 months of proband randomization

Secondary Outcomes (1)

• Proportion of eligible FDRs with a PGV undergoing disease prevention efforts

  Within 12 months of proband randomization

Other Outcomes (5)

• Proportion of eligible FDRs of the affected proband who underwent genetic testing

  Within 6 months of proband randomization

• Degree to which the somatic tumor profiling identifies a germline event

  up to 3 years

• Spectrum and prevalence of PGVs in cancer susceptibility genes

  Up to 3 years

Study Arms (3)

Step 1 (biospecimen collection, genetic testing)

EXPERIMENTAL

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

Procedure: Biospecimen Collection; Other: Genetic Testing

Step 2, Arm A (proband-mediated)

ACTIVE COMPARATOR

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

Other: Communication Intervention; Other: Survey Administration

Step 2, Arm B (provider-mediated)

EXPERIMENTAL

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

Other: Communication Intervention; Other: Survey Administration

Interventions

Biospecimen Collection PROCEDURE

Undergo collection of blood samples

Step 1 (biospecimen collection, genetic testing)

Genetic Testing OTHER

Undergo genetic testing

Step 1 (biospecimen collection, genetic testing)

Communication Intervention OTHER

Receive proband-mediated communication

Step 2, Arm A (proband-mediated); Step 2, Arm B (provider-mediated)

Survey Administration OTHER

Ancillary studies

Step 2, Arm A (proband-mediated); Step 2, Arm B (provider-mediated)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

Sponsors & Collaborators

• Alliance for Clinical Trials in Oncology: lead
• National Cancer Institute (NCI): collaborator

MeSH Terms

Conditions

Colonic Neoplasms; Rectal Neoplasms; Colorectal Neoplasms

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Frank A Sinicrope

  Alliance for Clinical Trials in Oncology

  STUDY CHAIR

Central Study Contacts

Rachel Wills

CONTACT

773-702-9814; rwills@bsd.uchicago.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 20, 2025
• First Posted: August 27, 2025
• Study Start: November 5, 2025
• Primary Completion (Estimated): November 5, 2029
• Study Completion (Estimated): November 5, 2032
• Last Updated: September 16, 2025

Record last verified: 2025-09