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50 types of cancer can be detected from a single blood test, study finds

[July 3, 2023: Staff Writer, The Brighter Side of News]

Study findings confirm that the test is proficient in detecting and classifying cell-free DNA (cfDNA). (CREDIT: Creative Commons)

Scientists are inching closer to the realization of a multi-cancer early detection (MCED) test capable of identifying over 50 forms of cancer. This diagnostic tool will be initially accessible to a select group: those aged 50 and above, who are symptom-free yet categorized as high risk for cancer.

Results from the final phase of the Circulating Cell-free Genome Atlas (CCGA) study, recently documented in the Annals of Oncology, support the efficacy of this test.

The research confirms the test's capability to identify and classify cell-free DNA (cfDNA) – remnants from tumors present in an individual's bloodstream with cancer. Impressively, the test can also pinpoint the original tumor's location, even in patients who show no signs related to cancer.


A new cancer screening paradigm

Dr. Eric A. Klein, lead author of the research and Chairman Emeritus of the Glickman Urological & Kidney Institute, thinks that this study aligns with prior findings from a CCGA sub-study, but on a grander scale and with separate verification. He believes these results are paving the way for a fresh perspective on cancer screening.

“With the multi-cancer early detection tests, we have the opportunity to diagnose and treat cancer earlier. Used alongside other screening modalities, this could significantly reduce cancer-related deaths,” he says. For some high-mortality cancers – including liver, pancreatic and esophageal – this is the first screening test available.


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Presently, patients in the United States have access to a mere five screening tests for different types of cancer, namely prostate, lung, breast, colorectal, and cervical cancers. Each of these tests bears its own set of constraints, from degrees of invasiveness to inconsistencies in application across various clinical settings, as well as a high rate of false positives that can result in overdiagnosis and unnecessary treatments.

The advent of this innovative assay ushers in the potential for a transformative shift in cancer screening. Its key ability is the detection of circulating cfDNA from a single blood sample, proving especially useful in identifying more aggressive and advanced-stage cancers, which are thought to produce greater quantities of cfDNA.


Yet, this also emphasizes the necessity to integrate this new technique, the MCED, with the current screening methodologies until further advancements are achieved. “Prostate cancer, for example, sheds comparatively less DNA than other tumors, making it less likely to be detected by the novel assay,” explains Dr. Klein, a urologic oncologist.

MCED test performance for cancer signal detection (A) overall sensitivity by cancer class. (CREDIT: Annals of Oncology)

How does it work? A genomic sequencing technology elucidates methylation, or chemical changes in the DNA that control gene expression, coupled with a machine learning application that systematically identifies patterns of irregularities in the DNA indicative of cancer. These patterns provide evidence as to where the cancer orginated and can help guide further diagnostic testing.

GRAIL, Inc. a California-based biotech company, developed the assay and has funded international research efforts. The MCED test is now available in the United States by prescription only.


Key findings

The study evaluated the performance of the test in two cohorts: individuals already diagnosed with cancer (n = 2,823) and those without a cancer diagnosis (n = 1,254). It detected cancer signals from more than 50 types of cancer across all four stages of disease.

  • The test’s overall sensitivity across cancer types and stages was 51.5%; sensitivity increased with each stage – the more advanced the disease, the more sensitive the test.

  • The average rate of sensitivity in cancers stages I – III was 67.6% in 12 pre-specified cancers (anal, bladder, bowel, esophageal, stomach, head and neck, liver and bile-duct, lung, lymphoma, ovarian, pancreatic, and cancers associated with white blood cells), which account for almost two-thirds of cancer-related deaths in the US.

  • The test’s specificity (also known as false-positive rate) was 99.5%, meaning that it found a false signal for cancer in only 0.5% of those tested.

  • In 88.7% of cases, the test correctly identifies the tissue in which the cancer was located, which could help decrease the time to diagnosis and allow physicians to facilitate treatment with greater efficiency.

A population-based screening tool?

Dr. Klein says the team is satisfied with the promising findings; they are hopeful that this technology could be extrapolated as a tool for cancer screening at a population level.


In fall 2020, Cleveland Clinic announced that it would begin enrollment for its arm of the PATHFINDER study, of which Dr. Klein is the principal investigator. He explains that the strength of the CCGA study is its robust assessment of the assay itself. The PATHFINDER study, however, is intended to evaluate the care pathways from a cancer “signal detected” test in a primary care setting to arriving at a diagnostic resolution with a cancer specialist.

Accuracy of CSO prediction (confusion matrix). The top panel indicates overall accuracy of CSO prediction. The bottom panel depicts a confusion matrix showing accuracy (top horizontal axis) and precision of CSO prediction by CSO (right vertical axis) among true positive participants with a known cancer signal origin. (CREDIT: Annals of Oncology)

“We can say with confidence that the multi-cancer early detection test has clinical utility. We still don’t know the implications for its use in a more generalizable patient population, but the results are very promising.”


The 50+ types of cancers tested:

1. Adrenal Cortical Carcinoma

2. Ampulla of Vater

3. Anus

4. Appendix, Carcinoma

5. Bile Ducts, Distal

6. Bile Ducts, Intrahepatic

7. Bile Ducts, Perihilar

8. Bladder, Urinary

9. Bone

10. Breast

11. Cervix

12. Colon and Rectum

13. Esophagus and Esophagogastric Junction

14. Gallbladder

15. Gastrointestinal Stromal Tumor

16. Gestational Trophoblastic Neoplasms

17. Kidney

18. Larynx

19. Leukemia

20. Liver

21. Lung

22. Lymphoma (Hodgkin and Non-Hodgkin)

23. Melanoma of the Skin

24. Mesothelioma, Malignant Pleural

25. Merkel Cell Carcinoma

26. Nasal Cavity and Paranasal Sinuses


The 50+ types of cancers tested (cont.):

27. Nasopharynx

28. Neuroendocrine Tumors of the Appendix

29. Neuroendocrine Tumors of the Colon and Rectum

30. Neuroendocrine Tumors of the Pancreas

31. Oral Cavity

32. Oropharynx (HPV-Mediated, p16+)

33. Oropharynx (p16-) and Hypopharynx

34. Ovary, Fallopian Tube and Primary Peritoneum

35. Pancreas, exocrine

36. Penis

37. Plasma Cell Myeloma and Plasma Cell Disorders

38. Prostate

39. Small Intestine

40. Soft Tissue Sarcoma of the Abdomen and Thoracic Visceral Organs

41. Soft Tissue Sarcoma of the Head and Neck

42. Soft Tissue Sarcoma of the Retroperitoneum

43. Soft Tissue Sarcoma of the Trunk and Extremities

44. Soft Tissue Sarcoma Unusual Histologies and Sites

45. Stomach

46. Testis

47. Uterus, Carcinoma and Carcinosarcoma

48. Uterus, Sarcoma

49. Ureter (and Renal Pelvis)

50. Vagina

51. Vulva

For more science news stories check out our New Innovations section at The Brighter Side of News.


Note: Materials provided above by The Brighter Side of News. Content may be edited for style and length.


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