"Game Changer": Health Professionals' Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management

Salma Shickh; Leslie E Oldfield; Marc Clausen; Chloe Mighton; Agnes Sebastian; Alessia Calvo; Nancy N Baxter; Lesa Dawson; Lynette S Penney; William Foulkes; Mark Basik; Sophie Sun; Kasmintan A Schrader; Dean A Regier; Aly Karsan; Aaron Pollett; Trevor J Pugh; Raymond H Kim; Yvonne Bombard; CHARM Consortium

doi:10.1093/oncolo/oyac039

"Game Changer": Health Professionals' Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management

Oncologist. 2022 May 6;27(5):e393-e401. doi: 10.1093/oncolo/oyac039.

Authors

Salma Shickh^{1

2}, Leslie E Oldfield³, Marc Clausen¹, Chloe Mighton^{1

2}, Agnes Sebastian^{1

2}, Alessia Calvo^{1

4}, Nancy N Baxter^{1

5

6}, Lesa Dawson^{7

8}, Lynette S Penney⁹, William Foulkes^{10

11}, Mark Basik^{10

11}, Sophie Sun^{12

13}, Kasmintan A Schrader^{12

13}, Dean A Regier^{12

13}, Aly Karsan^{12

13}, Aaron Pollett¹⁴, Trevor J Pugh^{3

15}, Raymond H Kim^{2

3

14

16}, Yvonne Bombard^{1

2

15}; CHARM Consortium

Collaborators

CHARM Consortium:
Trevor J Pugh, Raymond H Kim, Yvonne Bombard, Adriana Aguilar-Mahecha, Melyssa Aronson, Mark Basik, Nancy N Baxter, Hal Berman, Marcus Q Bernardini, Tulin Cil, Katie Compton, Lesa Dawson, Irfan Dhalla, Tiana Downs, Christine Elser, Gabrielle E V Ene, Kirsten M Farncombe, Sarah Ferguson, William Foulkes, Robert Gryfe, Michelle R Jacobson, Aly Karsan, Monika Kastner, Pardeep Kaurah, Jordan Lerner-Ellis, Stephanie Lheureux, Beatrice Luu, Shelley MacDonald, Brian Mckee, Nicole Mittmann, Kristen Mohler, Leslie Oldfield, Seema Panchal, Lynette S Penney, Carolyn Piccinin, Aaron Pollett, Dean Regier, Zoulikha Rezoug, Matthew Richardson, Anabel Scaranelo, Kasmintan A Schrader, Kara Semotiuk, Lillian Siu, Sophie Sun, Emily Thain, Gulisa Turashvili, Karin Wallace, Thomas Ward, Shelley Westergard, Wei Xu, Celeste Yu

Affiliations

¹ St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
² University of Toronto, Toronto, ON, Canada.
³ Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
⁴ McMaster University, Hamilton, ON, Canada.
⁵ Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
⁶ Department of Surgery, University of Toronto, Toronto, ON, Canada.
⁷ Memorial University, St. John's, NL, Canada.
⁸ Eastern Health Authority, St. John's, NL, Canada.
⁹ Dalhousie University, Halifax, NS, Canada.
¹⁰ McGill University, Montréal, QC, Canada.
¹¹ Jewish General Hospital, Montréal, QC, Canada.
¹² BC Cancer, Vancouver, BC, Canada.
¹³ University of British Columbia, Vancouver, BC, Canada.
¹⁴ Mount Sinai Hospital, Toronto, ON, Canada.
¹⁵ Ontario Institute for Cancer Research, Toronto, ON, Canada.
¹⁶ The Hospital for Sick Children, Toronto, ON, Canada.

Abstract

Background: We explored health professionals' views on the utility of circulating tumor DNA (ctDNA) testing in hereditary cancer syndrome (HCS) management.

Materials and methods: A qualitative interpretive description study was conducted, using semi-structured interviews with professionals across Canada. Thematic analysis employing constant comparison was used for analysis. 2 investigators coded each transcript. Differences were reconciled through discussion and the codebook was modified as new codes and themes emerged from the data.

Results: Thirty-five professionals participated and included genetic counselors (n = 12), geneticists (n = 9), oncologists (n = 4), family doctors (n = 3), lab directors and scientists (n = 3), a health-system decision maker, a surgeon, a pathologist, and a nurse. Professionals described ctDNA as "transformative" and a "game-changer". However, they were divided on its use in HCS management, with some being optimistic (optimists) while others were hesitant (pessimists). Differences were driven by views on 3 factors: (1) clinical utility, (2) ctDNA's role in cancer screening, and (3) ctDNA's invasiveness. Optimists anticipated ctDNA testing would have clinical utility for HCS patients, its role would be akin to a diagnostic test and would be less invasive than standard screening (eg imaging). Pessimistic participants felt ctDNA testing would add limited utility; it would effectively be another screening test in the pathway, likely triggering additional investigations downstream, thereby increasing invasiveness.

Conclusions: Providers anticipated ctDNA testing will transform early cancer detection for HCS families. However, the contrasting positions on ctDNA's role in the care pathway raise potential practice variations, highlighting a need to develop evidence to support clinical implementation and guidelines to standardize adoption.

Keywords: cancer detection; circulating tumor DNA; clinical utility; genomics; hereditary cancer syndromes.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Circulating Tumor DNA* / genetics
Early Detection of Cancer / methods
Health Personnel
Humans
Neoplastic Syndromes, Hereditary*
Qualitative Research

Substances

Circulating Tumor DNA

Abstract

Publication types

MeSH terms

Substances

Grants and funding