Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)

doi:10.1016/j.critrevonc.2020.102978

Review

. 2020 Jul:151:102978.

doi: 10.1016/j.critrevonc.2020.102978. Epub 2020 May 5.

Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)

Affiliations

¹ Thoracic Oncology Department and Early Phase Clinical Trials Section, School of Medicine, Maryland University, Maryland, USA. Electronic address: christian.rolfo@umm.edu.
² Clinical and Translational Oncology Group, Clínica del Country, Bogotá, Colombia; Foundation for Clinical and Applied Cancer Research - FICMAC, Bogotá, Colombia; Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad El Bosque, Bogotá, Colombia.
³ Department of Medicine, Division of Hematology and Oncology, Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 710 N Fairbanks Court, Suite 8-250A, Chicago, IL, 60611, USA.
⁴ Hospital Universitario 12 de Octubre, CNIO-H12o Lung Cancer Unit, Universidad Complutense and CIBERONC, Madrid, Spain.
⁵ DestiNA Genomica S.L. Parque Tecnológico Ciencias de la Salud (PTS), Avenida de la Innovación 1, Edificio BIC, 18016, Armilla, Granada, Spain; GENYO Centre for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government. PTS Granada - Avenida de la Ilustración, 114- 18016, Granada, Spain; Department Medicinal and Organic Chemistry, School of Pharmacy, University of Granada, Campus Cartuja s/n, 18071, Granada, Spain.
⁶ Servicio de Oncologia Medica, Medical Oncology Department, Hospital Universitario Marques de Valdecilla, Edificio Sur, 2 Planta, Despacho 277, 39008, Santander, Spain.
⁷ Memorial Cancer Institute, Memorial Health Care System, Florida International University, Florida, USA.
⁸ Thoracic Oncology Department and Early Phase Clinical Trials Section, School of Medicine, Maryland University, Maryland, USA; Medical Oncology Unit A.O. Papardo & Department of Human Pathology, University of Messina, Italy.
⁹ Laboratory of Genetic Identification, Department of Legal Medicine, University of Granada, Av. de la Investigación, 11, 18071, Granada, Spain; Centre for Genomics and Oncological Research - GENYO, Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain.
¹⁰ Department of Public Health, University Federico II of Naples, Naples, Italy.
¹¹ Department of Oncology, Clínica Universidad de Navarra, Pamplona, Navarra, Spain; University of Navarra, Center for Applied Medical Research, Program of Solid Tumors, Pamplona, Navarra, Spain; Idisna, Navarra Institute for Health Research, Pamplona, Navarra, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
¹² Molecular Oncology Laboratory, Fundación Investigación, Valencia General University Hospital, Valencia, Spain.
¹³ Center for Oncological Research (CORE), University of Antwerp, & Department of Pathology, Antwerp University Hospital, Edegem, Belgium.
¹⁴ State Key Laboratory in Oncology in South China, Hong Kong, China.
¹⁵ Centre for Genomics and Oncological Research - GENYO, Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain; Bio-Health Research Institute (Instituto de Investigación Biosanitaria ibs. GRANADA), Spain; Complejo Hospitalario Universitario Granada (CHUG), Department of Medical Oncology, University of Granada, Granada, Spain. Electronic address: mjose.serrano@genyo.es.

PMID: 32428812
DOI: 10.1016/j.critrevonc.2020.102978

Review

Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)

Christian Rolfo et al. Crit Rev Oncol Hematol. 2020 Jul.

. 2020 Jul:151:102978.

doi: 10.1016/j.critrevonc.2020.102978. Epub 2020 May 5.

Authors

Affiliations

¹ Thoracic Oncology Department and Early Phase Clinical Trials Section, School of Medicine, Maryland University, Maryland, USA. Electronic address: christian.rolfo@umm.edu.
² Clinical and Translational Oncology Group, Clínica del Country, Bogotá, Colombia; Foundation for Clinical and Applied Cancer Research - FICMAC, Bogotá, Colombia; Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad El Bosque, Bogotá, Colombia.
³ Department of Medicine, Division of Hematology and Oncology, Robert H. Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, 710 N Fairbanks Court, Suite 8-250A, Chicago, IL, 60611, USA.
⁴ Hospital Universitario 12 de Octubre, CNIO-H12o Lung Cancer Unit, Universidad Complutense and CIBERONC, Madrid, Spain.
⁵ DestiNA Genomica S.L. Parque Tecnológico Ciencias de la Salud (PTS), Avenida de la Innovación 1, Edificio BIC, 18016, Armilla, Granada, Spain; GENYO Centre for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government. PTS Granada - Avenida de la Ilustración, 114- 18016, Granada, Spain; Department Medicinal and Organic Chemistry, School of Pharmacy, University of Granada, Campus Cartuja s/n, 18071, Granada, Spain.
⁶ Servicio de Oncologia Medica, Medical Oncology Department, Hospital Universitario Marques de Valdecilla, Edificio Sur, 2 Planta, Despacho 277, 39008, Santander, Spain.
⁷ Memorial Cancer Institute, Memorial Health Care System, Florida International University, Florida, USA.
⁸ Thoracic Oncology Department and Early Phase Clinical Trials Section, School of Medicine, Maryland University, Maryland, USA; Medical Oncology Unit A.O. Papardo & Department of Human Pathology, University of Messina, Italy.
⁹ Laboratory of Genetic Identification, Department of Legal Medicine, University of Granada, Av. de la Investigación, 11, 18071, Granada, Spain; Centre for Genomics and Oncological Research - GENYO, Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain.
¹⁰ Department of Public Health, University Federico II of Naples, Naples, Italy.
¹¹ Department of Oncology, Clínica Universidad de Navarra, Pamplona, Navarra, Spain; University of Navarra, Center for Applied Medical Research, Program of Solid Tumors, Pamplona, Navarra, Spain; Idisna, Navarra Institute for Health Research, Pamplona, Navarra, Spain; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
¹² Molecular Oncology Laboratory, Fundación Investigación, Valencia General University Hospital, Valencia, Spain.
¹³ Center for Oncological Research (CORE), University of Antwerp, & Department of Pathology, Antwerp University Hospital, Edegem, Belgium.
¹⁴ State Key Laboratory in Oncology in South China, Hong Kong, China.
¹⁵ Centre for Genomics and Oncological Research - GENYO, Pfizer, University of Granada, Andalusian Regional Government, Granada, Spain; Bio-Health Research Institute (Instituto de Investigación Biosanitaria ibs. GRANADA), Spain; Complejo Hospitalario Universitario Granada (CHUG), Department of Medical Oncology, University of Granada, Granada, Spain. Electronic address: mjose.serrano@genyo.es.

PMID: 32428812
DOI: 10.1016/j.critrevonc.2020.102978

Erratum in

Corrigendum to "Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)" [Crit. Rev. Oncol. Hematol. 151 (July) (2020) 102978].
Rolfo C, Cardona AF, Cristofanilli M, Paz-Ares L, Diaz Mochon JJ, Duran I, Raez LE, Russo A, Lorente JA, Malapelle U, Gil-Bazo I, Jantus-Lewintre E, Pauwels P, Mok T, Serrano MJ; ISLB. Rolfo C, et al. Crit Rev Oncol Hematol. 2020 Oct;154:103058. doi: 10.1016/j.critrevonc.2020.103058. Epub 2020 Aug 18. Crit Rev Oncol Hematol. 2020. PMID: 32823147 No abstract available.

Abstract

Precision medicine was born with the development of new diagnostic techniques and targeted drugs, yielding better outcomes in cancer care. With the evolution and increasing sensitivity for detecting oncogenic drivers, liquid biopsies (LBs), specifically cell-free DNA (cfDNA) analysis, have been proposed as a minimally-invasive technique for genomic profiling. Ranging from sequencing techniques to PCR-based methods and other more complex strategies, this approach, currently applicable in some solid tumors with robust evidence, is showing promising opportunities in other cancers. However, difficulties in validating their clinical utility exist within limitation at different levels among several techniques, reporting of the results, lack of appropriate clinical trial designs, and unknown economic impact. One of the aims of the ISLB is to create recommendations to develop reliable and sustainable diagnostic, prognostic and predictive tools using LBs. This paper is addressing these objectives, helping the healthcare providers and scientific community to understand the potential of LB.

Keywords: Cell-free DNA; ISLB; Liquid biopsy; NGS; Perspective; Precision oncology.

PubMed Disclaimer

Conflict of interest statement

Declaration of Competing Interest Dr. Rolfo reports speaker bureau for MSD and AstraZeneca; advisory board role for ARCHER, Inivata, Merck Serono; consultant role for Mylan and Oncopass; supported research grant from Lung Cancer Research Foundation-Pfizer; research support from Guardant Health and Biomark inc. Dr. Cardona reports honoraria form BMS, Abbvie, Boehringer Ingelheim, Roche, MSD; Consulting or advisory Role for Roche, MSD, Novartis, Foundation Medicine, Foundation for Clinical and Applied Cancer Research, AstraZeneca, Boehringer Ingelheim; speaker bureau for Foundation Medicine, Foundation for Clinical and Applied Cancer Research, MSD, Novartis, BMS. Dr. Cristofanilli reports consultant role for Foundation Medicine, Lilly, Pfizer, Cytodyn. Dr. Gil-Bazo reports speaker bureau/consultant role for AstraZeneca, Guardant Health, BMS, MSD; advisory board role for AstraZeneca, Boehringer Ingelheim, BMS, Lilly, MSD; contracted support/research Gobierno de Navarra, Ministerio de Economia y Competitividad (Gobierno de Espana), Fundacion Merck Salud. Dr. Monchon reports stakeholder and executive director of Genomics SL; Dr. Pauwels reports speaker fees from Biocartis; consultant for Biocartis. Dr. Malapelle reports personal fees from Boehringer Ingelheim, AstraZeneca, Roche, MSD, Amgen, Merck, and BMS for participation in a speaker bureau or for acting in an advisory role. Dr. Duran reports Research Grant/ Funding from Astra-Zeneca (institution), Roche (institution); Advisor/Board Member role for Roche, BMS, MSD, Pharmacyclycs, Jansen, Ipsen, Novartis; Honoraria for lectures (self): Roche, BMS, MSD, Jansen, Ipsen, Novartis, Astellas; Travel/Accommodations/ Expenses from Ipsen, AstraZeneca. Dr. Mok reports Grant/Research Support from AstraZeneca, BMS, Clovis Oncology, G1 Therapeutics, MSD, Merck Serono, Novartis, Pfizer, Roche, SFJ, Takeda, XCovery; speaker’s fee from ACEA Pharma, Alpha Biopharma Co., Ltd., Amgen, Amoy Diagnostics Co., LTD., AstraZeneca, Boehringer Ingelheim, BMS, Eli Lilly, InMed Medical Communication, MSD, Novartis, Pfizer, PrIME Oncology, Roche/Genentech, Taiho, Takeda Oncology; Honoraria from Abbvie Inc., ACEA Pharma, Alpha Biopharma Co., Ltd., Amgen, Amoy Diagnostics Co., LTD., AstraZeneca, Bayer, Boehringer Ingelheim, Blueprint Medicines Corporation, BMS, Celgene, CStone Pharmaceuticals, Daiichi Sankyo, Eli Lilly, Fishawack Facilitate Ltd, Hengrui Therapeutics Inc, Ignyta, Inc., Incyte Corporation, InMed Medical Communication, IQVIA, Janssen, Loxo-Oncology, Merck Serono, MSD, MoreHealth, Novartis, OncoGenex Pharmaceuticals, Inc., OrigiMed, PeerVoice, Pfizer, PrIME Oncology, Roche/Genentech, Sanofi-Aventis R&D, SFJ Pharmaceutical Ltd., Takeda Pharmaceuticals HK Ltd., Vertex Pharmaceuticals, Yuhan Corporation, Medscape/WebMD (medical education/CME activities), PeerVoice (independent medical education), Prime Oncology (medical education); Shareholder in Hutchison Chi-Med, Sanomics Ltd.; Stock option in Clearbridge Biomedics (now Biolidics Ltd.), Loxo-Oncology; OrigiMed Co. Ltd., Virtus Medical Group; Advisory role for Abbvie Inc., ACEA Pharma, Amgen, AstraZeneca, Bayer, Blueprint Medicines Corporation, Boehringer Ingelheim, BMS, Celgene, Cirina, CStone Pharmaceuticals, Daiichi Sankyo, Eli Lilly, Fishawack Facilitate Ltd, G1 Therapeutics, Inc., geneDecode Co., Ltd. (uncompensated), Hengrui Therapeutics Inc., Hutchison Chi-Med, Ignyta, Inc., Incyte Corporation, IQVIA, Janssen, Loxo-Oncology, Lunit, Inc., Merck Serono, Merck Sharp & Dohme, Novartis, OncoGenex Technologies Inc., OrigiMed, Pfizer, Roche/Genentech, Sanofi-Aventis R&D, SFJ Pharmaceutical, Takeda Oncology, Vertex Pharmaceuticals, Virtus Medical Group, Yuhan Corporation; Board of Directors/Leadership roles (remunerated) in AstraZeneca PLC, Hutchison Chi-Med; Board of Directors/Leadership roles (non-remunerated) in American Society of Clinical Oncology (ASCO), Asian Thoracic Oncology Research Group (ATORG), Chinese Lung Cancer Research Foundation Limited (CLCRF), Chinese Society of Clinical Oncology (CSCO), Hong Kong Cancer Fund (HKCF), Hong Kong Cancer Therapy Society (HKCTS), International Association for the Study of Lung Cancer (IASLC), St. Stephen’s College & Prep. School. Dr Serrano reports consultant role for Astellas. The other authors do not report any conflict of interest.

Cited by

Sensitivity assessment of workflows detecting rare circulating cell-free DNA targets: A study design proposal.
Voss T, Ullius A, Schönborn M, Oelmüller U. Voss T, et al. PLoS One. 2021 Jul 6;16(7):e0253401. doi: 10.1371/journal.pone.0253401. eCollection 2021. PLoS One. 2021. PMID: 34228726 Free PMC article.
Trastuzumab Deruxtecan in HER2-Mutant Non-Small-Cell Lung Cancer.
Li BT, Smit EF, Goto Y, Nakagawa K, Udagawa H, Mazières J, Nagasaka M, Bazhenova L, Saltos AN, Felip E, Pacheco JM, Pérol M, Paz-Ares L, Saxena K, Shiga R, Cheng Y, Acharyya S, Vitazka P, Shahidi J, Planchard D, Jänne PA; DESTINY-Lung01 Trial Investigators. Li BT, et al. N Engl J Med. 2022 Jan 20;386(3):241-251. doi: 10.1056/NEJMoa2112431. Epub 2021 Sep 18. N Engl J Med. 2022. PMID: 34534430 Free PMC article. Clinical Trial.
Case Report: Potential role of selective venous sampling for liquid biopsy in complex clinical settings: Three case presentations.
Tichà V, Patelli G, Basso G, Prino A, Repetti E, Grugni M, Damascelli B. Tichà V, et al. Front Genet. 2023 Mar 28;14:1065537. doi: 10.3389/fgene.2023.1065537. eCollection 2023. Front Genet. 2023. PMID: 37056288 Free PMC article.
Cancer-cell-derived cell-free DNA can predict distant metastasis earlier in pancreatic cancer: a prospective cohort study.
Huang CJ, Huang WY, Chen CY, Chao YJ, Chiang NJ, Shan YS. Huang CJ, et al. Ther Adv Med Oncol. 2022 Jun 16;14:17588359221106558. doi: 10.1177/17588359221106558. eCollection 2022. Ther Adv Med Oncol. 2022. PMID: 35747164 Free PMC article.
Circulating extracellular vesicles are effective biomarkers for predicting response to cancer therapy.
Zhou E, Li Y, Wu F, Guo M, Xu J, Wang S, Tan Q, Ma P, Song S, Jin Y. Zhou E, et al. EBioMedicine. 2021 May;67:103365. doi: 10.1016/j.ebiom.2021.103365. Epub 2021 May 7. EBioMedicine. 2021. PMID: 33971402 Free PMC article. Review.

See all "Cited by" articles

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

LinkOut - more resources

Full Text Sources
- ClinicalKey
- Elsevier Science
Medical
- ClinicalTrials.gov
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)

Affiliations

Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB)

Authors

Affiliations

Erratum in

Abstract

Conflict of interest statement

Similar articles

Cited by

Publication types

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Erratum in

Abstract

Conflict of interest statement

Similar articles

Cited by

Publication types

MeSH terms

Substances

Related information

LinkOut - more resources

Full Text Sources

Medical