Circulating tumor DNA analysis in patients with cancer: American society of clinical oncology and college of American pathologists joint review

Jason D. Merker, Geoffrey R. Oxnard, Carolyn Compton, Maximilian Diehn, Patricia Hurley, Alexander J. Lazar, Neal Lindeman, Christina M. Lockwood, Alex J. Rai, Richard L. Schilsky, Apostolia M. Tsimberidou, Patricia Vasalos, Brooke L. Billman, Thomas K. Oliver, Suanna S. Bruinooge, Daniel F. Hayes, Nicholas C. Turner

Research output: Contribution to journalReview article

126 Citations (Scopus)

Abstract

Purpose Clinical use of analytical tests to assess genomic variants in circulating tumor DNA (ctDNA) is increasing. This joint review from ASCO and the College of American Pathologists summarizes current information about clinical ctDNA assays and provides a framework for future research. Methods An Expert Panel conducted a literature review on the use of ctDNA assays for solid tumors, including pre-analytical variables, analytical validity, interpretation and reporting, and clinical validity and utility. Results The literature search identified 1,338 references. Of those, 390, plus 31 references supplied by the Expert Panel, were selected for full-text review. There were 77 articles selected for inclusion. Conclusion The evidence indicates that testing for ctDNA is optimally performed on plasma collected in cell stabilization or EDTA tubes, with EDTA tubes processed within 6 hours of collection. Some ctDNA assays have demonstrated clinical validity and utility with certain types of advanced cancer; however, there is insufficient evidence of clinical validity and utility for the majority of ctDNA assays in advanced cancer. Evidence shows discordance between the results of ctDNA assays and genotyping tumor specimens and supports tumor tissue genotyping to confirm undetected results from ctDNA tests. There is no evidence of clinical utility and little evidence of clinical validity of ctDNA assays in early-stage cancer, treatment monitoring, or residual disease detection. There is no evidence of clinical validity and clinical utility to suggest that ctDNA assays are useful for cancer screening, outside of a clinical trial. Given the rapid pace of research, re-evaluation of the literature will shortly be required, along with the development of tools and guidance for clinical practice.

Original languageEnglish (US)
Pages (from-to)1631-1641
Number of pages11
JournalJournal of Clinical Oncology
Volume36
Issue number16
DOIs
StatePublished - Jun 1 2018

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Medical Oncology
DNA
Neoplasms
Pathologists
Edetic Acid
Early Detection of Cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Circulating tumor DNA analysis in patients with cancer : American society of clinical oncology and college of American pathologists joint review. / Merker, Jason D.; Oxnard, Geoffrey R.; Compton, Carolyn; Diehn, Maximilian; Hurley, Patricia; Lazar, Alexander J.; Lindeman, Neal; Lockwood, Christina M.; Rai, Alex J.; Schilsky, Richard L.; Tsimberidou, Apostolia M.; Vasalos, Patricia; Billman, Brooke L.; Oliver, Thomas K.; Bruinooge, Suanna S.; Hayes, Daniel F.; Turner, Nicholas C.

In: Journal of Clinical Oncology, Vol. 36, No. 16, 01.06.2018, p. 1631-1641.

Research output: Contribution to journalReview article

Merker, JD, Oxnard, GR, Compton, C, Diehn, M, Hurley, P, Lazar, AJ, Lindeman, N, Lockwood, CM, Rai, AJ, Schilsky, RL, Tsimberidou, AM, Vasalos, P, Billman, BL, Oliver, TK, Bruinooge, SS, Hayes, DF & Turner, NC 2018, 'Circulating tumor DNA analysis in patients with cancer: American society of clinical oncology and college of American pathologists joint review', Journal of Clinical Oncology, vol. 36, no. 16, pp. 1631-1641. https://doi.org/10.1200/JCO.2017.76.8671
Merker, Jason D. ; Oxnard, Geoffrey R. ; Compton, Carolyn ; Diehn, Maximilian ; Hurley, Patricia ; Lazar, Alexander J. ; Lindeman, Neal ; Lockwood, Christina M. ; Rai, Alex J. ; Schilsky, Richard L. ; Tsimberidou, Apostolia M. ; Vasalos, Patricia ; Billman, Brooke L. ; Oliver, Thomas K. ; Bruinooge, Suanna S. ; Hayes, Daniel F. ; Turner, Nicholas C. / Circulating tumor DNA analysis in patients with cancer : American society of clinical oncology and college of American pathologists joint review. In: Journal of Clinical Oncology. 2018 ; Vol. 36, No. 16. pp. 1631-1641.
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abstract = "Purpose Clinical use of analytical tests to assess genomic variants in circulating tumor DNA (ctDNA) is increasing. This joint review from ASCO and the College of American Pathologists summarizes current information about clinical ctDNA assays and provides a framework for future research. Methods An Expert Panel conducted a literature review on the use of ctDNA assays for solid tumors, including pre-analytical variables, analytical validity, interpretation and reporting, and clinical validity and utility. Results The literature search identified 1,338 references. Of those, 390, plus 31 references supplied by the Expert Panel, were selected for full-text review. There were 77 articles selected for inclusion. Conclusion The evidence indicates that testing for ctDNA is optimally performed on plasma collected in cell stabilization or EDTA tubes, with EDTA tubes processed within 6 hours of collection. Some ctDNA assays have demonstrated clinical validity and utility with certain types of advanced cancer; however, there is insufficient evidence of clinical validity and utility for the majority of ctDNA assays in advanced cancer. Evidence shows discordance between the results of ctDNA assays and genotyping tumor specimens and supports tumor tissue genotyping to confirm undetected results from ctDNA tests. There is no evidence of clinical utility and little evidence of clinical validity of ctDNA assays in early-stage cancer, treatment monitoring, or residual disease detection. There is no evidence of clinical validity and clinical utility to suggest that ctDNA assays are useful for cancer screening, outside of a clinical trial. Given the rapid pace of research, re-evaluation of the literature will shortly be required, along with the development of tools and guidance for clinical practice.",
author = "Merker, {Jason D.} and Oxnard, {Geoffrey R.} and Carolyn Compton and Maximilian Diehn and Patricia Hurley and Lazar, {Alexander J.} and Neal Lindeman and Lockwood, {Christina M.} and Rai, {Alex J.} and Schilsky, {Richard L.} and Tsimberidou, {Apostolia M.} and Patricia Vasalos and Billman, {Brooke L.} and Oliver, {Thomas K.} and Bruinooge, {Suanna S.} and Hayes, {Daniel F.} and Turner, {Nicholas C.}",
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T1 - Circulating tumor DNA analysis in patients with cancer

T2 - American society of clinical oncology and college of American pathologists joint review

AU - Merker, Jason D.

AU - Oxnard, Geoffrey R.

AU - Compton, Carolyn

AU - Diehn, Maximilian

AU - Hurley, Patricia

AU - Lazar, Alexander J.

AU - Lindeman, Neal

AU - Lockwood, Christina M.

AU - Rai, Alex J.

AU - Schilsky, Richard L.

AU - Tsimberidou, Apostolia M.

AU - Vasalos, Patricia

AU - Billman, Brooke L.

AU - Oliver, Thomas K.

AU - Bruinooge, Suanna S.

AU - Hayes, Daniel F.

AU - Turner, Nicholas C.

PY - 2018/6/1

Y1 - 2018/6/1

N2 - Purpose Clinical use of analytical tests to assess genomic variants in circulating tumor DNA (ctDNA) is increasing. This joint review from ASCO and the College of American Pathologists summarizes current information about clinical ctDNA assays and provides a framework for future research. Methods An Expert Panel conducted a literature review on the use of ctDNA assays for solid tumors, including pre-analytical variables, analytical validity, interpretation and reporting, and clinical validity and utility. Results The literature search identified 1,338 references. Of those, 390, plus 31 references supplied by the Expert Panel, were selected for full-text review. There were 77 articles selected for inclusion. Conclusion The evidence indicates that testing for ctDNA is optimally performed on plasma collected in cell stabilization or EDTA tubes, with EDTA tubes processed within 6 hours of collection. Some ctDNA assays have demonstrated clinical validity and utility with certain types of advanced cancer; however, there is insufficient evidence of clinical validity and utility for the majority of ctDNA assays in advanced cancer. Evidence shows discordance between the results of ctDNA assays and genotyping tumor specimens and supports tumor tissue genotyping to confirm undetected results from ctDNA tests. There is no evidence of clinical utility and little evidence of clinical validity of ctDNA assays in early-stage cancer, treatment monitoring, or residual disease detection. There is no evidence of clinical validity and clinical utility to suggest that ctDNA assays are useful for cancer screening, outside of a clinical trial. Given the rapid pace of research, re-evaluation of the literature will shortly be required, along with the development of tools and guidance for clinical practice.

AB - Purpose Clinical use of analytical tests to assess genomic variants in circulating tumor DNA (ctDNA) is increasing. This joint review from ASCO and the College of American Pathologists summarizes current information about clinical ctDNA assays and provides a framework for future research. Methods An Expert Panel conducted a literature review on the use of ctDNA assays for solid tumors, including pre-analytical variables, analytical validity, interpretation and reporting, and clinical validity and utility. Results The literature search identified 1,338 references. Of those, 390, plus 31 references supplied by the Expert Panel, were selected for full-text review. There were 77 articles selected for inclusion. Conclusion The evidence indicates that testing for ctDNA is optimally performed on plasma collected in cell stabilization or EDTA tubes, with EDTA tubes processed within 6 hours of collection. Some ctDNA assays have demonstrated clinical validity and utility with certain types of advanced cancer; however, there is insufficient evidence of clinical validity and utility for the majority of ctDNA assays in advanced cancer. Evidence shows discordance between the results of ctDNA assays and genotyping tumor specimens and supports tumor tissue genotyping to confirm undetected results from ctDNA tests. There is no evidence of clinical utility and little evidence of clinical validity of ctDNA assays in early-stage cancer, treatment monitoring, or residual disease detection. There is no evidence of clinical validity and clinical utility to suggest that ctDNA assays are useful for cancer screening, outside of a clinical trial. Given the rapid pace of research, re-evaluation of the literature will shortly be required, along with the development of tools and guidance for clinical practice.

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