FDA Approves Novel Blood Test as a Primary Screening Option for Colorectal Cancer

A novel blood test (Shield; Guardant Health, Inc) for colorectal cancer (CRC) screening received FDA approval for adults ages 45 and older who are at average risk of the disease. The decision is based on positive results from the ECLIPSE trial (NCT04136002), which showed that the blood test demonstrated 83% sensitivity for the detection of CRC. The test paves the way for less invasive, efficacious diagnostic treatments that improve screening rates to help clinicians and patients detect CRC in its earlier stages.¹

The cell-free DNA (cfDNA) test is a non-invasive screening alternative that detects alterations associated with CRC in the blood. Image Credit: © SewcreamStudio - stock.adobe.com

According to the American Cancer Society, there will be approximately 106,590 new cases of colon cancer (54,210 in men and 52,380 in women) and 46,220 cases of rectal cancer (27,330 in men and 18,890 in women) in 2024. It is the second most common cause of cancer deaths amongst men and women combined, despite being highly treatable. However, CRC is often diagnosed in later stages of disease due to its obscure symptoms, such as irregular bowel movements, rectal bleeding or blood in the stool, abdominal discomfort, and fatigue, which can be attributed to a number of causal factors. Additionally, many individuals lack access to screening for CRC, preventing them from receiving diagnosis in earlier stages of the disease.^2,3

The cell-free DNA (cfDNA) test is a non-invasive screening alternative that detects alterations associated with CRC in the blood. Its success was demonstrated in the ECLIPSE trial, a 20,000-patient registrational study evaluating the performance of the cfDNA for detecting CRC in adults and designed to reflect the diverse population of the US. The researchers conducted the trial across 37 states in over 200 clinical sites with a distinct focus on rural and urban areas.⁴

CfDNA demonstrated an 83% overall sensitivity for the detection of colorectal cancer (95% confidence interval [CI], 72.2 to 90.3), with an 87.5% sensitivity for stages 1, 2, or 3 (95% CI, 75.3 to 94.1). Advanced precancerous lesions had a sensitivity of 13.2% (95% CI, 11.3 to 15.3). In the study, 89.6% of participants who did not have any advanced colorectal neoplasia, including colorectal cancer or advanced precancerous lesions, as identified by colonoscopy had a negative result on the cfDNA blood-based test. This yields a specificity of 89.6% for detecting advanced neoplasia (95% CI, 88.8 to 90.3). Additionally, when considering the specificity for a negative colonoscopy result, the specificity was found to be 89.9% (95% CI, 89.0 to 90.7).⁵

The findings underscore the capabilities of the cfDNA blood-based test to effectively detect CRC in at-risk populations, offering patients less invasive diagnostic options. Further, it expands equitable access to health care by providing clinics who do not have the screening technology across the country with efficacious diagnostic options.

“The persistent gap in colorectal cancer screening rates shows that the existing screening options do not appeal to millions of people,” said Daniel Chung, MD, gastroenterologist at Massachusetts General Hospital and Professor of Medicine at Harvard Medical School, in a press release. “The FDA's approval of the [sic] blood test marks a tremendous leap forward, offering a compelling new solution to close this gap. This decision will help make screening tests more broadly accessible and propel blood-based testing and CRC screening into a new era. With increased screening rates and early cancer detection, many more lives can be saved.”²

REFERENCES

1. Bristol-Myers Squibb. A Study of Lisocabtagene Maraleucel (JCAR017) in Combination With Ibrutinib in Subjects With Relapsed and/or Refractory Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma (TRANSCEND CLL 004). ClinicalTrials.gov Identifier: NCT04136002. Updated July 27, 2023. Accessed July 29, 2024. https://clinicaltrials.gov/ct2/show/NCT04136002

2. Key statistics for colorectal cancer. American Cancer Society. January 29, 2024. Accessed July 29, 2024. https://www.cancer.org/cancer/types/colon-rectal-cancer/about/key-statistics.html

3. Colon cancer. Mayo Clinic. July 27, 2023. Accessed July 29, 2024. https://www.mayoclinic.org/diseases-conditions/colon-cancer/symptoms-causes/syc-20353669

4. Guardant health’s shield™ blood test approved by fda as a primary screening option, clearing path for medicare reimbursement and a new era of colorectal cancer screening. Gaurdant. July 29, 2024. Accessed July 29, 2024. https://investors.guardanthealth.com/press-releases/press-releases/2024/Guardant-Healths-Shield-Blood-Test-Approved-by-FDA-as-a-Primary-Screening-Option-Clearing-Path-for-Medicare-Reimbursement-and-a-New-Era-of-Colorectal-Cancer-Screening/default.aspx

5. Chung D, Gray II D, Singh H, et al. A cell-free dna blood-based test for colorectal cancer screening. N Engl J Med. March 13, 2024. doi: 10.1056/NEJMoa2304714