Abstract
Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple cancers. However, current screening strategies have limited ability to screen for all cancer risks. Circulating tumour DNA (ctDNA) detects DNA fragments shed by tumour cells in the bloodstream and can potentially detect cancers early. This study aimed to explore patients’ perspectives on ctDNA’s utility to help inform its clinical adoption and implementation. We conducted a qualitative interpretive description study using semi-structured phone interviews. Participants were purposively sampled adult HCS patients recruited from a Canadian HCS research consortium. Thirty HCS patients were interviewed (n = 19 women, age range 20s-70s, n = 25 were white). Participants were highly concerned about developing cancers, particularly those without reliable screening options for early detection. They “just wanted more” than their current screening strategies. Participants were enthusiastic about ctDNA’s potential to be comprehensive (detect multiple cancers), predictive (detect cancers early) and tailored (lead to personalized clinical management). Participants also acknowledged ctDNA’s potential limitations, including false positives/negatives risks and experiencing additional anxiety. However, they saw ctDNA’s potential benefits outweighing its limitations. In conclusion, participants’ belief in ctDNA’s potential to improve their care overshadowed its limitations, indicating patients’ support for using ctDNA in HCS care.
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Data availability
The data that support the findings of this study are available from the corresponding author YB upon request.
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Acknowledgements
We would like to thank our study participants for generously sharing their time and insights for this study. This study was supported by the Canadian Institutes of Health Research.
Funding
This study was supported by a grant from The Canadian Institutes of Health Research (CIHR-159453). EA received support from the Research Training Centre at St. Michael’s Hospital. YB was supported by a New Investigator Award from the Canadian Institutes of Health Research during the conduct of this work. RHK was supported by the Princess Margaret Foundation and the Bhalwani Family Charitable Foundation. As well, this study was performed under the auspice of the LIBERATE study (NCT 03702309), supported by the BMO Chair in Precision Cancer Genomics.
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Conceptualization: YB, MC, EA; Formal analysis: YB, EA, MC, SS, JS, ER; Funding acquisition: YB, RHK, TJP, AP; Methodology: YB, EA, MC; Investigation: MC, EA; Resources: YB, LEO, KAS; Writing – original draft: EA, YB; Writing – review and editing: all authors.
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This study was conducted with the approval from Research Ethics Board at Clinical Trials Ontario (REB#1655) in Toronto, Ontario, Canada. All participants interviewed for this study consented to the audio-recording and transcription of their interview. Transcripts were de-identified prior to analysis.
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Adi-Wauran, E., Clausen, M., Shickh, S. et al. “I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening. Eur J Hum Genet 32, 176–181 (2024). https://doi.org/10.1038/s41431-023-01473-y
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DOI: https://doi.org/10.1038/s41431-023-01473-y