Cancer prevention and early detection: Emerging technologies and interventions
Keywords:
cancer prevention, early detection, precision oncology, biomarkers, multi-cancer early detection tests, liquid biopsiesAbstract
Background: Precision oncology is transforming early cancer detection among average-risk individuals. Advances in next-generation sequencing have led to significant insights into the cancer genome and the identification of biomarkers to improve early detection. Aim: This article examines emerging technologies and interventions in cancer prevention and early detection, focusing on the latest advancements in screening methodologies. Methods: The review analyzes various single- and multi-cancer early detection tests, discussing their methodologies, biomarker identification, clinical trial results, and the challenges associated with current screening approaches. Results: Innovative tests, such as multi-cancer early detection (MCED) assays, have shown superior sensitivity compared to traditional methods by identifying circulating tumor DNA (ctDNA) before symptoms arise. While promising, these technologies face challenges, including the potential for false positives and negatives, overdiagnosis, and disparities in access to testing. Conclusion: Emerging technologies in cancer detection hold great potential to revolutionize screening practices. However, careful consideration of their clinical utility and potential harms is necessary to ensure equitable access and effective implementation.
Downloads
References
American Cancer Society 2023. Cancer Facts & Figures 2023 Atlanta, GA: Am. Cancer Soc.
NORC 2023. Percent of cancers detected by screening: all cancer, all ages. Cancer Detection Tool NORC Chicago, IL.: https://cancerdetection.norc.org/. Accessed Aug. 12, 2023
Sabatino SA, Thompson TD, White MC et al. 2021. Cancer screening test receipt—United States, 2018. Morb. Mortal. Wkly. Rep. 70:29–35 DOI: https://doi.org/10.15585/mmwr.mm7002a1
Hubbard RA, Kerlikowske K, Flowers CI et al. 2011. Cumulative probability of false-positive recall or biopsy recommendation after 10 years of screening mammography: a cohort study. Ann. Intern. Med. 155:481–92 DOI: https://doi.org/10.7326/0003-4819-155-8-201110180-00004
Ibáñez-Sanz G, Garcia M, Milà N et al. 2019. Adverse Effects on Colorectal Cancer Screening in Catalonia (EACC) Study Working Group. False-positive results in a population-based colorectal screening program: cumulative risk from 2000 to 2017 with biennial screening. Cancer Epidemiol. Biomarkers Prev. 28:1909–16 DOI: https://doi.org/10.1158/1055-9965.EPI-18-1368
Petitti DB, Lin JS, Burda BU. 2018. Overdiagnosis in prostate cancer screening decision models: a contextual review for the US Preventive Services Task Force AHRQ Publ. No. 17-05229-EF-3 Agency Healthc. Res. Qual. North Bethesda, MD:
Toft EL, Kaae SE, Malmqvist J, Brodersen J. 2019. Psychosocial consequences of receiving false-positive colorectal cancer screening results: a qualitative study. Scand. J. Prim. Health Care 37:145–54 DOI: https://doi.org/10.1080/02813432.2019.1608040
Lafata JE, Simpkins J, Lamerato L et al. 2004. The economic impact of false-positive cancer screens. Cancer Epidemiol. Biomarkers Prev. 13:2126–32 DOI: https://doi.org/10.1158/1055-9965.2126.13.12
Black WC. 2009. Overdiagnosis: an underrecognized cause of confusion and harm in cancer screening. J. Natl. Cancer Inst. 92:1280–82 DOI: https://doi.org/10.1093/jnci/92.16.1280
Srivastava S, Koay EJ, Borowsky AD et al. 2019. Cancer overdiagnosis: a biological challenge and clinical dilemma. Nat. Rev. Cancer 19:349–58 DOI: https://doi.org/10.1038/s41568-019-0142-8
Kim SY, Kim HS, Park HJ. 2019. Adverse events related to colonoscopy: global trends and future challenges. World J. Gastroenterol. 25:190–204 DOI: https://doi.org/10.3748/wjg.v25.i2.190
Dasari A, Grothey A, Kopetz S. 2018. Circulating tumor DNA-defined minimal residual disease in solid tumors: opportunities to accelerate the development of adjuvant therapies. J. Clin. Oncol. 36:3437–40 DOI: https://doi.org/10.1200/JCO.2018.78.9032
Pantel K, Alix-Panabieres C. 2019. Liquid biopsy and minimal residual disease—latest advances and implications for cure. Nat. Rev. Clin. Oncol. 16:409–24 DOI: https://doi.org/10.1038/s41571-019-0187-3
Dinan MA, Curtis LH, Hammill BG et al. 2010. Changes in the use and costs of diagnostic imaging among Medicare beneficiaries with cancer 1999–2006. JAMA 303:1625–31 DOI: https://doi.org/10.1001/jama.2010.460
Vlahiotis A, Griffin B, Stavros AT, Margolis J. 2018. Analysis of utilization patterns and associated costs of the breast imaging and diagnostic procedures after screening mammography. Clinicoeconom. Outcomes Res. 10:157–67 DOI: https://doi.org/10.2147/CEOR.S150260
Johnson DA, Barclay RL, Mergener K et al. 2014. Plasma Septin9 versus fecal immunochemical testing for colorectal cancer screening: a prospective multicenter study. PLOS ONE 9:e98238 DOI: https://doi.org/10.1371/journal.pone.0098238
Church TR, Wandell M, Lofton-Day C et al. 2014. PRESEPT Clinical Study Steering Committee, investigators and study team. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut 63:317–25 DOI: https://doi.org/10.1136/gutjnl-2012-304149
CMS 2021. Screening for colorectal cancer—blood-based biomarker tests Decision memo CAG-00454N Cent. Medicare Medicaid Serv. Baltimore, MD:
Lamb YN, Dhillon S. 2017. Epi proColon® 2.0 CE: a blood-based screening test for colorectal cancer. Mol. Diagn. Ther. 21:225–32 DOI: https://doi.org/10.1007/s40291-017-0259-y
Imperiale TF, Ransohoff DF, Itzkowitz SH et al. 2014. Multitarget stool DNA testing for colorectal-cancer screening. N. Engl. J. Med. 370:1287–97 DOI: https://doi.org/10.1056/NEJMoa1311194
US Prev. Serv. Task Force 2021. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. JAMA 325:1965–77 DOI: https://doi.org/10.1001/jama.2021.6238
Wolf AMD, Fontham ETH, Church TR et al. 2018. Colorectal cancer screening for average-risk adults: 2018 guideline update from the American Cancer Society. CA Cancer J. Clin. 68:250–81 DOI: https://doi.org/10.3322/caac.21457
Valouev A, Zotenko E, Snyder M et al. 2022. Development of a highly sensitive multicancer, targeted, cell-free DNA epigenomic assay for integrated screening of lung and colorectal cancer. J. Clin. Oncol. 40:3542 Abstr.) DOI: https://doi.org/10.1200/JCO.2022.40.16_suppl.3542
Jeeyun L, Kim HC, Kim ST et al. 2021. Multimodal circulating tumor DNA (ctDNA) colorectal neoplasia detection assay for asymptomatic and early-stage colorectal cancer (CRC). J. Clin. Oncol. 39:3536 (Abstr.) DOI: https://doi.org/10.1200/JCO.2021.39.15_suppl.3536
D'Auria K, Chang Y, Multhaup M et al. 2022. Validation of a multi-modal blood-based test for the detection of colorectal cancer with sub single molecule sensitivity. J. Clin. Oncol. 40:3627 Abstr.) DOI: https://doi.org/10.1200/JCO.2022.40.16_suppl.3627
Kim S-T, Raymond VM, Park JO et al. 2019. Combined genomic and epigenomic assessment of cell-free circulating tumor DNA (ctDNA) improves assay sensitivity in early-stage colorectal cancer (CRC). Cancer Res 79:916 Abstr.) DOI: https://doi.org/10.1158/1538-7445.AM2019-916
Westesson O, Axelrod H, Dean J et al. 2020. Integrated genomic and epigenomic cell-free DNA (cfDNA) analysis for the detection of early-stage colorectal cancer. Cancer Res 80:2316 Abstr.) DOI: https://doi.org/10.1158/1538-7445.AM2020-2316
Guardant Health 2022. Guardant Health announces positive results from pivotal ECLIPSE study evaluating a blood test for the detection of colorectal cancer Press Release, Dec. 15 Guardant Health Palo Alto, CA: https://investors.guardanthealth.com/press-releases/press-releases/2022/Guardant-Health-announces-positive-results-from-pivotal-ECLIPSE-study-evaluating-a-blood-test-for-the-detection-of-colorectal-cancer/default.aspx
Chung D, Gray DM, Greenson J et al. 2023. Clinical validation of cell free DNA blood-based test for colorectal cancer screening in an average risk population. Gastroenterology 164:6 Suppl.S1573 DOI: https://doi.org/10.1016/S0016-5085(23)04760-1
Han YD, Oh TJ, Chung T-H et al. 2019. Early detection of colorectal cancer based on presence of methylated syndecan-2 (SDC2) in stool DNA. Clin. Epigenet. 11:51 DOI: https://doi.org/10.1186/s13148-019-0642-0
Kim CW, Kim H, Kim HR et al. 2021. Colorectal cancer screening using a stool DNA-based SDC2 methylation test: a multicenter, prospective trial. BMC Gastroenterol 21:173 DOI: https://doi.org/10.1186/s12876-021-01759-9
Crook T, Leonard R, Mokbel K et al. 2022. Accurate screening for early-stage breast cancer by detection and profiling of circulating tumor cells. Cancers 14:3341 DOI: https://doi.org/10.3390/cancers14143341
O'Neill K, Syed N, Crook T et al. 2023. Profiling of circulating glial cells allows accurate blood-based diagnosis of glial malignancies. medRxiv 2022.07.06.22277300 DOI: https://doi.org/10.1101/2022.07.06.22277300
Limaye S, Chowdhury S, Rohatgi N et al. 2023. Accurate prostate cancer detection based on enrichment and characterization of prostate cancer specific circulating tumor cells. Cancer Med 12:9116–27 DOI: https://doi.org/10.1002/cam4.5649
Hudnut AG, Hubbell E, Venn O, Church TR. 2023. Modeled residual current cancer risk after clinical investigation of a positive multi-cancer early detection test result. Cancer 129:2056–63 DOI: https://doi.org/10.1002/cncr.34747
Liu MC, Oxnard GR, Klein EA et al. 2020. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Ann. Oncol. 31:745–59 DOI: https://doi.org/10.1016/j.annonc.2020.04.013
Lennon AM, Buchanan AH, Kinde I et al. 2020. Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention. Science 369:eabb9601
Chen X, Gole J, Gore A et al. 2020. Non-invasive early detection of cancer four years before conventional diagnosis using a blood test. Nat. Commun. 11:3475 DOI: https://doi.org/10.1038/s41467-020-17316-z
Wang HY, Chen CH, Shi S et al. 2020. Improving multi-tumor biomarker health check-up tests with machine learning algorithms. Cancers 12:1442 DOI: https://doi.org/10.3390/cancers12061442
Akolkar D, Patil D, Crook T et al. 2020. Circulating ensembles of tumor-associated cells: a redoubtable new systemic hallmark of cancer. Int. J. Cancer 146:3485–94 DOI: https://doi.org/10.1002/ijc.32815
Gaya A, Crook T, Plowman N et al. 2021. Evaluation of circulating tumor cell clusters for pan-cancer noninvasive diagnostic triaging. Cancer Cytopathol 129:226–38 DOI: https://doi.org/10.1002/cncy.22366
Klein EA, Richards D, Cohn A et al. 2021. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann. Oncol. 32:1167–77 DOI: https://doi.org/10.1016/j.annonc.2021.05.806
Chen X, Dong Z, Hubbell E et al. 2021. Prognostic significance of blood-based multi-cancer detection in plasma cell-free DNA. Clin. Cancer Res. 27:4221–29 DOI: https://doi.org/10.1158/1078-0432.CCR-21-0417
Nadauld LD, McDonnell CH 3rd, Beer TM et al. 2021. The PATHFINDER study: assessment of the implementation of an investigational multi-cancer early detection test into clinical practice. Cancers 13:3501 DOI: https://doi.org/10.3390/cancers13143501
GRAIL 2022. GRAIL announces final results from the PATHFINDER multi-cancer early detection screening study at ESMO Congress 2022 News Release, Sept. 11 GRAIL Menlo Park, CA:
Schrag D, McDonnell CH III, Nadauld L et al. 2022. A prospective study of a multi-cancer early detection blood test (Abstract 9030). Ann. Oncol. 33:S961
Lee JM, Ichikawa L, Valencia E et al. 2017. Performance benchmarks for screening breast MR imaging in community practice. Radiology 285:44–52 DOI: https://doi.org/10.1148/radiol.2017162033
Pinsky PF, Berg CD. 2012. Applying the National Lung Screening Trial eligibility criteria to the US population: What percent of the population and of incident lung cancers would be covered?. J. Med. Screen. 19:154–56 DOI: https://doi.org/10.1258/jms.2012.012010
FDA 2014. Premarket approval (PMA): Cologuard summary of safety and effectiveness data Premarket Approval Applic. No. P130017, US Food Drug Adm. US Dep. Health Hum. Serv. Silver Spring, MD:
Cohen JD, Li L, Wang Y et al. 2018. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science 359:926–30
Grubb RL 3rd, Pinsky PF, Greenlee RT et al. 2008. Prostate cancer screening in the Prostate, Lung, Colorectal and Ovarian cancer screening trial: update on findings from the initial four rounds of screening in a randomized trial. BJU Int. 102:1524–30 DOI: https://doi.org/10.1111/j.1464-410X.2008.08214.x
Natl. Lung Screening Trial Res. Team, Aberle DR, Adams AM, Berg CD et al. 2011. Reduced lung-cancer mortality with low-dose computed tomographic screening. N. Engl. J. Med. 365:395–409 DOI: https://doi.org/10.1056/NEJMoa1102873
Croswell JM, Kramer BS, Kreimer AR et al. 2009. Cumulative incidence of false-positive results in repeated, multimodal cancer screening. Ann. Fam. Med. 7:212–22
Bettegowda C, Sausen M, Leary RJ et al. 2014. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci. Transl. Med. 224:224ra24
Liles EG, Coronado GD, Perrin N et al. 2017. Uptake of a colorectal cancer screening blood test is higher than of a fecal test offered in clinic: a randomized trial. Cancer Treat. Res. Commun. 10:27–31 DOI: https://doi.org/10.1016/j.ctarc.2016.12.004
Clarke CA, Hubbell E, Kurian AW et al. 2020. Projected reductions in absolute cancer-related deaths from diagnosing cancers before metastasis, 2006–2015. Cancer Epidemiol. Biomarkers Prev. 29:895–902 DOI: https://doi.org/10.1158/1055-9965.EPI-19-1366
Schrag D, McDonnell CH III, Nadauld L et al. 2022. PATHFINDER: a prospective study of a multi-cancer early detection blood test Paper presented at ESMO Congress, Sep. 11 Paris: https://grail.com/wp-content/uploads/2022/09/Schrag_903O_ESMO-2022_Pathfinder-Main_Proferred-Paper-Oral-Presentation.pdf DOI: https://doi.org/10.1016/j.annonc.2022.07.1029
Schrag D, Beer TM, McDonnell CH III et al. 2022. Evaluation of anxiety, distress and satisfaction with a multi-cancer early detection test. Ann. Oncol. 33:2417–26 DOI: https://doi.org/10.1016/j.annonc.2022.07.1034
Tafazzoli A, Ramsey SD, Shaul A et al. 2022. The potential value-based price of a multi-cancer early detection genomic blood test to complement current single cancer screening in the USA. PharmacoEconomics 40:1107–17 DOI: https://doi.org/10.1007/s40273-022-01181-3
Swanton C, Neal RD, Johnson PWM et al. 2022. NHS-Galleri trial design: equitable study recruitment tactics for targeted population-level screening with a multi-cancer early detection (MCED) test. J. Clin. Oncol. 40:TPS6606-TPS DOI: https://doi.org/10.1200/JCO.2022.40.16_suppl.TPS6606
Am. Soc. Clin. Oncol. Assoc. Comm. Cancer Cent 2023. ASCO-ACCC initiative to increase racial & ethnic diversity in clinical trials. ASCO. https://old-prod.asco.org/news-initiatives/current-initiatives/cancer-care-initiatives/diversity-cancer-clinical-trials
Exact Sciences 2023. Cologuard offers comprehensive support designed with your practice and patients in mind. Cologuard https://www.cologuardhcp.com/coverage-and-support/specialized-support
Published
How to Cite
Issue
Section
Copyright (c) 2024 International journal of health sciences
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Articles published in the International Journal of Health Sciences (IJHS) are available under Creative Commons Attribution Non-Commercial No Derivatives Licence (CC BY-NC-ND 4.0). Authors retain copyright in their work and grant IJHS right of first publication under CC BY-NC-ND 4.0. Users have the right to read, download, copy, distribute, print, search, or link to the full texts of articles in this journal, and to use them for any other lawful purpose.
Articles published in IJHS can be copied, communicated and shared in their published form for non-commercial purposes provided full attribution is given to the author and the journal. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in this journal.
This copyright notice applies to articles published in IJHS volumes 4 onwards. Please read about the copyright notices for previous volumes under Journal History.
