Cancer screening with germline genetic sequencing and liquid biopsy could facilitate early cancer detection. But testing if these technologies reduce the burden of cancer mortality will require rethinking how clinical trials are run.
Your institute does not have access to this article
Subscribe to Nature+
Get immediate online access to the entire Nature family of 50+ journals
Subscribe to Journal
Get full journal access for 1 year
only $4.92 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Get time limited or full article access on ReadCube.
All prices are NET prices.
Plichta, J. K., Griffin, M., Thakuria, J. & Hughes, K. S. Oncology 30, 787–799 (2016).
Chen, M. & Zhao, H. Hum. Genomics 13, 34 (2019).
Yurgelun, M. B., Chenevix-Trench, G. & Lippman, S. M. Cell 168, 566–570 (2017).
Turnbull, C., Sud, A. & Houlston, R. S. Nat. Genet. 50, 1212–1218 (2018).
Haverfield, E. et al. BMC Med. (in the press).
Manchanda, R., Lieberman, S., Gaba, F., Lahad, A. & Levey-Lahad, E. Annu. Rev. Genomics. Hum. Genet. 21, 373–412 (2020).
Hall, M. J., Forman, A. D., Pilarski, R., Wiesner, G. & Giri, V. N. J. Natl. Compr. Canc. Netw. 12, 1339–1346 (2014).
De Rubis, G., Krishnan, S. R. & Bebawy, M. Pharmacol. Res. 136, 35–44 (2018).
Lennon, A. M. et al. Science 369, eabb9601 (2020).
Liu, M. C. et al. Ann. Oncol. 31, 745–759 (2020).
Heyn, H. & Esteller, M. Nat. Rev. Genet. 13, 679–692 (2012).
Luo, H. et al. Sci. Transl. Med. 12, eaax7533 (2020).
Aravanis, A. M., Lee, M. & Klausner, R. D. Cell 168, 571–574 (2017).
Chen, X. et al. Nat. Commun. 11, 3475 (2020).
Bradley, S. H. & Barclay, M. E. Br. Med. J. 372, m4933 (2021).
Mathews, S. C. et al. NPJ Digit. Med. 2, 38 (2019).
Johnston, J. L., Dhruva, S. S., Ross, J. S. & Rathi, V. K. Nat. Biotechnol. 38, 933–938 (2020).
American Society of Clinical Oncology. J. Oncol. Pract. 3, 296–301 (2007).
Reynolds, I. S., Rising, J. P., Coukell, A. J., Paulson, K. H. & Redberg, R. F. JAMA Intern. Med. 174, 1773–1779 (2014).
Resnic, F. S. et al. N. Engl. J. Med. 376, 526–535 (2018).
Wallach, J. D. et al. Br. Med. J. 361, k2031 (2018).
Curran, G. M., Bauer, M., Mittman, B., Pyne, J. M. & Stetler, C. Med. Care 50, 217–226 (2012).
Srivastava, S. et al. Nat. Rev. Cancer 19, 349–358 (2019).
Rathi, V. K., Krumholz, H. M., Masoudi, F. A. & Ross, J. A. JAMA Netw. Open 3, e2014496 (2020).
The viewpoints expressed herein are those of the authors and do not reflect official viewpoints of the US National Institutes of Health, The Center for Medicare & Medicaid Innovation, CMS or the companies mentioned. The authors appreciate helpful comments on earlier drafts of this article from S. Aldubayan, H. Hampel, A. Kesselheim and R. Weinberg. R.C.G. is supported by US National Institutes of Health grants HG006500, HD077671, HD090019, HG009922, HL143295 and TR003201 and by the Franca Sozzani Fund.
S.R. receives consulting fees from Grail. C.J.K. is an employee of UnitedHealth Group and owns stock in the company. D.A.W. owns equity in BillionToOne, a company that provides non-invasive prenatal testing, and advises a fund with equity in Genome Medical. A.B. is a part-time senior advisor for primary care policy at the Center for Medicare and Medicaid Innovation, advising the Comprehensive Primary Care Plus and Primary Care First programs. R.C.G. has received consulting fees from AIA, Genomic Life, Grail, OptumLabs and Verily, and is co-founder and advisor to Genome Medical.
About this article
Cite this article
Raoof, S., Kennedy, C.J., Wallach, D.A. et al. Molecular cancer screening: in search of evidence. Nat Med 27, 1139–1142 (2021). https://doi.org/10.1038/s41591-021-01431-5