Stool DNA Testing Research Articles

Does Colonoscopy as a First Screening Test Still Make Sense?-Counterpoint.

Colonoscopy has been widely regarded as the gold standard for its high diagnostic accuracy and preventive potential. However, its invasive nature, high cost, and suboptimal participation rates limit its utility at the population level. Non-invasive screening tests, notably the fecal immunochemical test (FIT) and multitarget stool DNA tests, present promising alternatives that may improve screening participation and reduce barriers to participation. Among these, FIT has demonstrated a consistent advantage in enhancing participation, which subsequently contributes to better long-term outcomes in CRC prevention. FIT-based two-step screening offers several practical advantages, including cost-effectiveness, non-invasiveness, and greater flexibility. Moreover, the quantitative nature of FIT allows for adjustable sensitivity thresholds and the ability of risk stratification, making it adaptable across diverse populations and scenarios. Through serial testing, FIT can increase cumulative detection rates over time. This approach facilitates the identification of high-risk individuals, allowing for more judicious use of colonoscopy resources and reducing unnecessary invasive procedures, especially among low-risk populations. Notably, evidence indicates that participation to FIT-based screening is consistently higher than to colonoscopy, which enhances the detection of early-stage cancers and advanced adenomas in the long run. Given the constraints of limited endoscopic capacity, the aging population, and the recent lowering of the recommended screening age due to the rising incidence of early-onset CRC, FIT emerges as a practical, flexible solution. The role of two-step FIT screening in improving participation and enabling risk-stratified, personalized approaches to CRC prevention is pivotal, advocating for its expanded integration into future screening paradigms.

Next-Generation Multitarget Stool DNA vs Fecal Immunochemical Test in Colorectal Cancer Screening

This diagnostic study compares the specificity and sensitivity of comercial fecal immunochemical tests with a multitarget stool DNA test.

Is the Multitarget Stool DNA Test Just a Better “FIT” for Colorectal Cancer Screening?

Is the Multitarget Stool DNA Test Just a Better “FIT” for Colorectal Cancer Screening?

Evaluation of a Tailored Patient Navigation Program for Improving Multitarget Stool DNA Test Adherence.

Multitarget stool DNA (mt-sDNA) is an increasingly utilized noninvasive option for colorectal cancer screening; however, its impact is limited by imperfect test adherence. Tailored patient navigation (TPN) improves adherence for other cancer screening tests, but its role in mt-sDNA is not known. Determine whether TPN improves mt-sDNA completion and reduces sample could not be processed (SCNBP) result rates. A large, urban, academic primary care clinic serving a medically vulnerable population. All patients who received mt-sDNA order in 2022 and 2023. A patient navigator outreached all patients ordered mt-sDNA to support test completion during the 12-month intervention period in 2023. Rates of mt-sDNA completion within 90 days and SCNBP results were compared between the 12-month intervention and pre-intervention periods using generalized estimating equations. A total of 2694 patients received 3297 orders during the study. TPN was significantly associated with improvedrates of 90-day mt-sDNA completion (51% vs. 39%, OR 1.67, p < .001) and SCNBP results (4% vs. 5%, OR 0.55, p < .001). Tailored patient navigation was associated with improved rates of mt-sDNA completion and SCNBP results despite built-in navigation services provided by the manufacturer. TPN for mt-sDNA is a promising strategy for enhancing colorectal cancer screening uptake.

Adopting Non-invasive Approaches into Precision Colorectal Cancer Screening.

Effective screening is essential to reducing CRC incidence and mortality by detecting the disease at early stages and identifying non-invasive precursors. While colonoscopy remains the most sensitive modality to visualize and remove neoplastic lesions thereby reducing CRC and the related death, its high cost and invasive nature limit its widespread use. The fecal immunochemical test (FIT), which offers a non-invasive alternative with higher public acceptance and comparable cost-effectiveness to colonoscopy, has become the preferred screening method in many regions. Newer non-invasive tests, such as multitarget stool DNA or RNA tests, have shown improved sensitivity for CRC and advanced adenomas, although their high costs and lower specificity present challenges for large-scale implementation. Blood-based circulating cell-free DNA test also offer promise but still require optimization to be cost-effective. The heterogeneity of the screening population further complicates the effectiveness of CRC screening programs. Variations in non-communicable disease risk factors, such as metabolic syndrome, lifestyle habits, and comorbidities, can significantly influence CRC risk and screening outcomes. Moreover, diverse screening behaviors, including inconsistent adherence to recommended screening intervals and the interchangeable use of different screening modalities, add complexity to achieving uniform effectiveness across populations. This variability underscores the need for personalized screening strategies that consider individual risk profiles and screening behaviors, as well as the application of cutting-edge technologies such as big data analytics, artificial intelligence, and digital twin approaches to evaluate its effectiveness. This article reviews the current CRC screening strategies, the advantages of non-invasive methods, and the potential of fecal hemoglobin concentration, to tailor screening intervals and improve risk stratification. It also discusses the emerging role of real-world data and advanced technologies in enhancing CRC screening accuracy and effectiveness, particularly in complex real-world scenarios where traditional methods may fall short. Before novel non-invasive approaches, such as ctDNA tests or polygenic risk scores, are validated and proven cost-effective, exploring the clinical utility of FIT and its quantitative measurement in both screening and surveillance by integrating real-world clinical big data seems a feasible direction for achieving sustained development in population screening.

The Utility of Multitarget Stool DNA Testing for Colorectal Cancer Screening After a Normal Colonoscopy.

Multitarget stool DNA (MT-sDNA) tests (here, Cologuard®) are currently used in average-risk patients as a primary method of screening for colorectal cancer. However, MT-sDNA testing has also been used in patients who previously underwent colonoscopy who wish to avoid repeat colonoscopy. Here, in a large primary care practice setting, our aim was to evaluate the diagnostic performance of MT-sDNA testing in patients with a previously normal colonoscopy. This retrospective cohort study included 5827 patients from 35 different primary locations in South Carolina. Patients aged 45 and above with a previously documented normal, high-quality colonoscopy prior to the MT-sDNA test date were included. High-risk patients and those with a previous negative MT-sDNA result were excluded. Of 5827 ordered MT-sDNA tests, 248 patients had a prior normal colonoscopy. The average time from initial colonoscopy to MT-sDNA testing was 7.3years. Of the 63 patients who had a positive MT-sDNA test, 41 patients (65%) completed follow-up colonoscopy and 40 patients had complete colonoscopy data. Of these 40 patients, 12 patients (30%) had advanced adenomas and none had colorectal cancer. Compared to patients without a previous colonoscopy, patients with prior colonoscopies had fewer adenomas of all types (1.6 vs 2.4) and fewer advanced adenomas (1.4 vs 2.0). Patients with a previously negative colonoscopy and subsequent positive MT-sDNA test were found to have a high rate of advanced adenomas on follow-up colonoscopy (30%). Thus, in patients with a previously negative colonoscopy, MT-sDNA testing may be a reasonable alternative screening option.

Diagnostic Accuracy of Multitarget Stool DNA Test for Colorectal Cancer Screening and Detecting in Thailand.

A multitarget stool DNA test offers high sensitivity and specificity for screening and detecting colorectal cancer (CRC) in Western populations. However, its accuracy in Asian people is not well known. This study aimed to examine the diagnostic performance of multitarget stool DNA tests in Thailand. A prospective cross-sectional study was conducted from January 2023 to November 2023 at a tertiary university hospital in Bangkok. The study included both asymptomatic and symptomatic patients who underwent stool DNA testing followed by colonoscopy. The multitarget stool DNA test targeted methylation statuses of SDC2, ADHFE1, and PPP2R5C genes. Sensitivity, specificity, and other diagnostic parameters were analyzed. A total of 274 patients (mean age 62.1 years, 60.6% female) were enrolled. CRC was diagnosed in 17.2% of participants and 6.2% had advanced adenomas. The multitarget stool DNA test demonstrated a sensitivity of 91.5% (95% CI: 79.6-97.6) and specificity of 90.3% (95% CI: 85.7-93.8) for CRC detection. Its sensitivity for detecting CRC did not differ between right-sided lesions (92.3%) and left-sided lesions (91.2%) (P=0.901). The sensitivity for detecting CRC lesions size less than 2 cm was significantly lower than for larger lesions (25% vs 91.7%, p<0.001). Notably, the test's sensitivity and specificity for advanced colorectal neoplasms/cancer were 75.0% (95% CI: 62.6-85.0) and 91.9% (95% CI: 87.4-95.2), respectively. Multitarget stool DNA testing is highly sensitive and specific for CRC detection in Thai individuals. This testing could represent as a viable non-invasive alternative to colonoscopy especially in settings where colonoscopy is less accessible or less accepted by patients.

S533 An Analysis of Factors Affecting Follow-Up Colonoscopy in Patients Using Multi-Target Stool DNA Tests: A Multi-Center Retrospective Review

S533 An Analysis of Factors Affecting Follow-Up Colonoscopy in Patients Using Multi-Target Stool DNA Tests: A Multi-Center Retrospective Review

S493 Success of Repeated Orders for Multi-target Stool DNA Testing in Clinical Practice

S493 Success of Repeated Orders for Multi-target Stool DNA Testing in Clinical Practice

S388 An Evaluation of Time to Colonoscopy After Positive Multitargeted Stool DNA Testing

S388 An Evaluation of Time to Colonoscopy After Positive Multitargeted Stool DNA Testing

S427 Cross-Sectional Adherence With the Multi-Target Stool DNA Test for Colorectal Cancer Screening Among Four Largest Payors in the Country

S427 Cross-Sectional Adherence With the Multi-Target Stool DNA Test for Colorectal Cancer Screening Among Four Largest Payors in the Country

S460 Non-Invasive Screening Tests for Colorectal Cancer: Analyzing the Performance of FIT and Multi-Target Stool DNA Test

S460 Non-Invasive Screening Tests for Colorectal Cancer: Analyzing the Performance of FIT and Multi-Target Stool DNA Test

S462 Long-Term Oncologic Outcomes in Patients With History of Non-Colorectal Cancer and Positive Multi-Target Stool DNA Test With Negative Diagnostic Colonoscopy for Advanced Colorectal Neoplasia

S462 Long-Term Oncologic Outcomes in Patients With History of Non-Colorectal Cancer and Positive Multi-Target Stool DNA Test With Negative Diagnostic Colonoscopy for Advanced Colorectal Neoplasia

S426 Gap Closure Adherence to Multi-Targeted Stool DNA Test for Colorectal Cancer Screening in an Insured Cohort

S426 Gap Closure Adherence to Multi-Targeted Stool DNA Test for Colorectal Cancer Screening in an Insured Cohort

S512 Impact of Spanish Language Outreach on Multi-Target Stool DNA Test Adherence in a Spanish-Speaking Population in a Federally Qualified Health Center

S512 Impact of Spanish Language Outreach on Multi-Target Stool DNA Test Adherence in a Spanish-Speaking Population in a Federally Qualified Health Center

S513 Impact of Spanish Language Patient Navigation on Multi-Target Stool DNA Test Adherence Among Spanish-Speaking Patient Population

S513 Impact of Spanish Language Patient Navigation on Multi-Target Stool DNA Test Adherence Among Spanish-Speaking Patient Population

S458 Impact of Personalized Patient Outreach on Multi-Target Stool DNA Test Adherence in a Large Colorectal Cancer Screening Population

S458 Impact of Personalized Patient Outreach on Multi-Target Stool DNA Test Adherence in a Large Colorectal Cancer Screening Population

Is Noninvasive Next-generation Multitarget Stool DNA Test Useful for Colon Cancer Screening?

Is Noninvasive Next-generation Multitarget Stool DNA Test Useful for Colon Cancer Screening?

Disparities in Rates of Multitarget Stool DNA Test Completion for Colorectal Cancer Screening.

The aim was to assess patient adherence to multitarget stool DNA testing as well as factors associated with adherence. In the United States, disparities in colorectal cancer screening exist along racial and socioeconomic lines. While some studies suggest that stool-based screening tests may help reduce the screening gap, the data for multitarget stool DNA testing is unclear. We conducted a single-center retrospective cohort study on multitarget stool DNA testing ordered between April 2020 and July 2021. We calculated the proportion of patients who completed testing and used multivariate logistic regression to identify covariates associated with test adherence. Among 797 patients ordered for multitarget stool DNA testing, 481 patients (60.4%) completed testing. Adherence rates by patient subgroups ranged from 35.8% to 78.1%. Higher test adherence was found in Asian patients (odds ratio 2.65, 95% CI 1.36-5.18) and those who previously completed colorectal cancer screening (OR 1.45, 95% CI 1.01-2.09), while Black patients (OR 0.58, 95% CI 0.39-0.87), patients with resident primary care physicians (OR 0.34, 95% CI 0.21-0.56), and patients contacted through an outreach program (OR 0.47, 95% CI 0.25-0.87) had lower adherence. A significant proportion of patients ordered for multitarget stool DNA testing did not complete testing. Differences in adherence rates among patient subgroups may be reflective of underlying disparities in health care access.

Stool-Based Testing for Post-Polypectomy Colorectal Cancer Surveillance Safely Reduces Colonoscopies: The MOCCAS Study

Colonoscopy-based surveillance to prevent colorectal cancer (CRC) causes substantial burden for patients and health care. Stool tests may help to reduce surveillance colonoscopies by limiting colonoscopies to individuals at increased risk of advanced neoplasia. This cross-sectional observational study included individuals aged 50-75 years with surveillance indication. Before bowel preparation, participants collected samples for a multitarget stool DNA test and 2 fecal immunochemical tests (FITs). Test accuracy was calculated for all surveillance indications. For the post-polypectomy indication only, which is the most common and is associated with a relatively low CRC risk, long-term impact of stool-based surveillance was evaluated with the Adenoma and Serrated Pathway to Colorectal Cancer (ASCCA) model. Stool-based strategies were simulated to tune each test's positivity threshold to obtain strategies at least as effective as colonoscopy surveillance. There were 3453 individuals with results for all stool tests and colonoscopy; 2226 had previous polypectomy, 1003 had previous CRC, and 224 had a familial risk. Areas under the receiver operating characteristic curve for advanced neoplasia were 0.72 (95% CI, 0.69-0.75) for the multitarget stool DNA test, 0.61 (95% CI, 0.58-0.64) for the FIT OC-SENSOR (Eiken Chemical Co, Tokyo, Japan) and 0.59 (95% CI, 0.56-0.61) for the FIT FOB-Gold (Sentinel, Milan, Italy). Stool-based post-polypectomy surveillance strategies at least as effective as colonoscopy surveillance reduced the number of colonoscopies by 15%-41% and required 5.6-9.5 stool tests over a person's lifetime. Multitarget stool DNA-based surveillance was more costly than colonoscopy surveillance, whereas FIT-based surveillance saved costs. This study found that stool-based post-polypectomy surveillance strategies can be safe and cost-effective, with potential to reduce the number of colonoscopies by up to 41%. gov, Number: NCT02715141.