“Game Changer”: Health Professionals’ Views on the Clinical Utility of Circulating Tumor DNA Testing in Hereditary Cancer Syndrome Management
Authors: Shickh Salma , Oldfield Leslie E , Clausen Marc , Mighton Chloe , Sebastian Agnes , Calvo Alessia , Baxter Nancy N , Dawson Lesa , Penney Lynette S , Foulkes William , Basik Mark , Sun Sophie , Schrader Kasmintan A , Regier Dean A , Karsan Aly , Pollett Aaron , Pugh Trevor J , Kim Raymond H , Bombard Yvonne ,   CHARM Consortium, Pugh Trevor J , Kim Raymond H , Bombard Yvonne , Aguilar-Mahecha Adriana , Aronson Melyssa , Basik Mark , Baxter Nancy N , Berman Hal , Bernardini Marcus Q , Cil Tulin , Compton Katie , Dawson Lesa , Dhalla Irfan , Downs Tiana , Elser Christine , Ene Gabrielle E V , Farncombe Kirsten M , Ferguson Sarah , Foulkes William , Gryfe Robert , Jacobson Michelle R , Karsan Aly , Kastner Monika , Kaurah Pardeep , Lerner-Ellis Jordan , Lheureux Stephanie , Luu Beatrice , MacDonald Shelley , Mckee Brian , Mittmann Nicole , Mohler Kristen , Oldfield Leslie , Panchal Seema , Penney Lynette S , Piccinin Carolyn , Pollett Aaron , Regier Dean , Rezoug Zoulikha , Richardson Matthew , Scaranelo Anabel , Schrader Kasmintan A , Semotiuk Kara , Siu Lillian , Sun Sophie , Thain Emily , Turashvili Gulisa , Wallace Karin , Ward Thomas , Westergard Shelley , Xu Wei , Yu Celeste 
Published: February 2022

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.