Evaluating the Cologuard Test for Use in Lynch Syndrome

This study is aiming to enroll 90 patients with genetically confirmed Lynch Syndrome (LS) from Geisinger's High Risk Colorectal Cancer Clinic (HRC). Upon enrollment in the study, a Cologuard test will be ordered and the results will be blinded until data analysis. Patients enrolled in the study will also undergo a colonoscopy as part of their routine HRC visit.

Study Overview

• Status: Withdrawn
• Conditions: Colorectal Cancer; Lynch Syndrome; Colonic Polyp; Colonic Adenoma
• Intervention / Treatment: Diagnostic test: Cologuard test

Detailed Description

The primary aim is to perform a pilot study to gain information toward the implementation of a larger prospective study that will compare the performance of Cologuard with the gold-standard colonoscopy in identifying advanced adenomas and colorectal cancers in LS. Data regarding rate of consent, and adherence to the protocol will be recorded. Since patients with known genetic predisposition to cancers tend to view screening tests more positively than the general population, a second aim of the study is to evaluate patient satisfaction with bowel preparation, colonoscopies, and Cologuard testing. Up to 90 individuals with genetically confirmed LS will be recruited via Geisinger's HRC to complete a goal of 90 Cologuard studies. Upon enrollment, Cologuard will be ordered by the study team at no cost to the subject and will be completed according to the standard instructions for use. Results will be securely obtained and blinded until the time of data analysis. Subjects will undergo colonoscopy as part of their routine HRC visit. Results from the colonoscopy (and biopsy as indicated) will be retrieved from the Electronic Health Record (EHR) and documented in a research-associated spreadsheet. If repeat colonoscopy is clinically indicated, repeat Cologuard may be completed if the subject meets inclusion criteria.

• Study Type: Observational

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Danville, Pennsylvania, United States, 17822
      • Geisinger Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 89 years (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adult patients being followed in the HRC with a diagnosis of LS

Description

Inclusion Criteria:

• Patients age 18-89
• Diagnosis of genetically confirmed LS
• Scheduled for standard of care colonoscopy within 60 days of enrollment

Exclusion Criteria:

• Diagnosis of other inherited genetic disorders that increase risk for Colorectal Cancer (CRC) (Familial Adenomatous Polyposis (FAP), Cowden's syndrome, Turcot syndrome, Gardner syndrome, and Peutz-Jeghers syndrome)
• Diagnosis of other inherited Inflammatory bowel disease (i.e. Crohn disease, ulcerative colitis)
• Others with elevated risk of CRC outside of the inclusion criteria (i.e. ≥2 first-degree relatives who have been diagnosed with CRC without a defined inherited genetic disorder, Hereditary Non-Polyposis Colon Cancer (HNPCC) without genetic confirmation of LS)
• Participation in any interventional clinical study within the previous 30 days
• Personal history of CRC not in full remission (5 consecutive cancer-free years)
• Current active treatment with chemotherapy
• Treatment with chemotherapy within 12 months prior to consent date

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cologuard Study Group; Within 60 days of their already scheduled screening colonoscopy, participants will provide a stool sample to be tested by a Cologuard screening test kit. Participants will also complete surveys prior to their colonoscopy as well as post colonoscopy.	Diagnostic test: Cologuard test; Cologuard is a stool-DNA screening test for detecting colon cancer

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the feasibility of the Cologuard test for Lynch Syndrome	To evaluate the feasibility of Cologuard in a high-risk population, a summary report of the enrollment/consent rate and adherence to the protocol will be provided. Additional analyses comparing the results (given as positive/negative) Cologuard with the gold standard of colonoscopy will be performed using diagnostic tests including sensitivity, specificity, positive predictive value and negative predictive value.	3 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate patient satisfaction with Cologuard	To evaluate patient satisfaction of Cologuard the responses to the Geisinger Cologuard Satisfaction Questionnaire will be summarized. The questionnaire is composed of 15 questions. There are two primary questions are "How satisfied are you with the process of using Cologuard which uses a 5 point Likert Scale (Very satisfied to Very Dissatisfied) and "would you recommend Cologuard using a 10 point Likert scale (Not at all likely to Extremely Likely). Other categorical questions are either yes no response or an ordinal response with 4 categories. There are 6 questions that are open text responses to give more details as to why the selected their categorical response. The information gathered in the open responses is qualitative and will be used to provide guidance of approach and protocol for a future study.	3 months
Evaluate health-related quality of life in Lynch Syndrome	Assess the results of the 12-Item Short Form Health Survey (SF-12) collected at the initial subject contact. Responses will be summarized.	3 months
Evaluate depressive symptoms	Assess the results of the Patient Health Questionnaire - 9 (PHQ-9) collected at the time of their High-Risk Clinic Visit. Responses will be summarized.	3 months
Evaluate anxiety symptoms surrounding routine colonoscopy	Assess the results of the General Anxiety Disorder - 7 item scale (GAD-7) collected at the initial subject contact and that collected at the completion of their participation. Responses will be summarized	3 months
Evaluate bowel preparation tolerability	Assess the results of the Mayo Florida Bowel Prep Tolerability Questionnaire (MFBT-9) collected at the completion of the subject's participation. Responses will be summarized.	3 months

Collaborators and Investigators

• Sponsor: Geisinger Clinic
• Investigators: Principal Investigator: Rajiv Panikkar, MD, Geisinger Clinic

Study record dates

Study Major Dates

• Study Start (Anticipated): November 1, 2021
• Primary Completion (Anticipated): May 1, 2022
• Study Completion (Anticipated): September 1, 2022

Study Registration Dates

• First Submitted: February 26, 2021
• First Submitted That Met QC Criteria: February 26, 2021
• First Posted (Actual): March 3, 2021

Study Record Updates

• Last Update Posted (Actual): November 17, 2021
• Last Update Submitted That Met QC Criteria: November 9, 2021
• Last Verified: November 1, 2021

More Information

Terms related to this study

• Keywords: Colorectal Cancer; Colonoscopy; Health-Related Quality of Life; Procedural anxiety; Lynch Syndrome; Hereditary non-polyposis colon cancer; High-Risk Colon Cancer; Bowel Prep Tolerability
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Metabolic Diseases; Neoplasms by Histologic Type; Neoplasms; Neoplasms by Site; Neoplasms, Glandular and Epithelial; Disease; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Genetic Diseases, Inborn; Colonic Diseases; Intestinal Diseases; Pathological Conditions, Anatomical; Intestinal Neoplasms; Rectal Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Polyps; Intestinal Polyps; Syndrome; Colorectal Neoplasms; Adenoma; Colorectal Neoplasms, Hereditary Nonpolyposis; Colonic Polyps
• Other Study ID Numbers: 2020-0239

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No