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“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening

European Journal of Human Genetics volume 32, pages 176–181 (2024)Cite this article

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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

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.

Author information

Author notes

  1. These authors jointly supervised this work: Raymond H. Kim, Yvonne Bombard.

Authors and Affiliations

  1. Genomics Health Services Research Program, St. Michael’s Hospital, Unity Health Toronto, Toronto, Canada

    Ella Adi-Wauran, Marc Clausen, Salma Shickh, Jordan Sam, Emma Reble, Suvetha Krishnapillai & Yvonne Bombard

  2. Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Canada

    Ella Adi-Wauran, Salma Shickh, Anna R. Gagliardi, Avram Denburg, Suvetha Krishnapillai, Nancy N. Baxter & Yvonne Bombard

  3. Toronto General Hospital Research Institute, University Health Network, Toronto, Canada

    Anna R. Gagliardi

  4. Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada

    Avram Denburg & Raymond H. Kim

  5. Princess Margaret Cancer Centre, University Health Network, Toronto, Canada

    Leslie E. Oldfield, Trevor J. Pugh & Raymond H. Kim

  6. BC Cancer, Vancouver, Canada

    Dean A. Regier, Sophie Sun, Kasmintan A. Schrader, Aly Karsan, Dean Regier, Aly Karsan, Kasmintan A. Schrader, Pardeep Kaurah, Sophie Sun & Sara Singh

  7. University of British Columbia, Vancouver, Canada

    Dean A. Regier, Sophie Sun, Kasmintan A. Schrader & Aly Karsan

  8. Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia

    Nancy N. Baxter

  9. University of Toronto, Toronto, Canada

    Nancy N. Baxter & Raymond H. Kim

  10. Memorial University, St. John’s, Canada

    Lesa Dawson

  11. Eastern Health Authority, St. John’s, Canada

    Lesa Dawson, Lesa Dawson, Krista Rideout & Stacy Whittle

  12. Dalhousie University, Halifax, Canada

    Lynette S. Penney

  13. McGill University, Montréal, Canada

    William Foulkes & Mark Basik

  14. Jewish General Hospital, Montréal, Canada

    William Foulkes, Mark Basik, Mark Basik, William Foulkes, Adriana Aguilar-Mahecha, Zoulikha Rezoug, Victoria Carile & Josiane Lafleur

  15. Mount Sinai Hospital, Toronto, Canada

    Aaron Pollett & Raymond H. Kim

  16. Ontario Institute for Cancer Research, Toronto, Canada

    Trevor J. Pugh, Raymond H. Kim & Yvonne Bombard

  17. IWK Health Centre, Halifax, Canada

    Lynette S. Penney, Karin Wallace & Shelley M. MacDonald

  18. Unity Health, Toronto, Canada

    Yvonne Bombard, Nancy N. Baxter, Irfan Dhalla, Brian Mckee, Nicole Mittmann & Monika Kastner

  19. Women’s College Hospital, Toronto, Canada

    Michelle R. Jacobson, Marcus Q. Bernardini & Gabrielle E. V. Ene

  20. University Health Network, Toronto, Canada

    Raymond H. Kim, Trevor J. Pugh, Leslie E. Oldfield, Kirsten M. Farncombe, Lillian Siu, Stephanie Lheureux, Sarah Ferguson, Christine Elser, Tulin Cil, Shelley Westergard, Emily Thain, Hal Berman, Wei Xu, Celeste Yu, Maia L. Norman, Clarissa F. Chan, Precious Uju, Phil Bedard, Blaise Clarke & Jeanna McCuaig

  21. Sinai Health System, Toronto, Canada

    Aaron Pollett, Melyssa Aronson, Robert Gryfe, Seema Panchal, Carolyn Piccinin, Thomas Ward, Kara Semotiuk & Jordan Lerner-Ellis

Authors
  1. Ella Adi-Wauran
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  2. Marc Clausen
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  3. Salma Shickh
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  4. Anna R. Gagliardi
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  5. Avram Denburg
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  6. Leslie E. Oldfield
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  7. Jordan Sam
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  8. Emma Reble
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  9. Suvetha Krishnapillai
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  10. Dean A. Regier
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  11. Nancy N. Baxter
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  12. Lesa Dawson
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  13. Lynette S. Penney
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  14. William Foulkes
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  15. Mark Basik
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  16. Sophie Sun
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  17. Kasmintan A. Schrader
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  18. Aly Karsan
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  19. Aaron Pollett
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  20. Trevor J. Pugh
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  21. Raymond H. Kim
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  22. Yvonne Bombard
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Consortia

the CHARM consortium

  • Lesa Dawson
  • , Krista Rideout
  • , Stacy Whittle
  • , Lynette S. Penney
  • , Karin Wallace
  • , Shelley M. MacDonald
  • , Mark Basik
  • , William Foulkes
  • , Adriana Aguilar-Mahecha
  • , Zoulikha Rezoug
  • , Victoria Carile
  • , Josiane Lafleur
  • , Yvonne Bombard
  • , Nancy N. Baxter
  • , Irfan Dhalla
  • , Brian Mckee
  • , Nicole Mittmann
  • , Monika Kastner
  • , Michelle R. Jacobson
  • , Marcus Q. Bernardini
  • , Gabrielle E. V. Ene
  • , Raymond H. Kim
  • , Trevor J. Pugh
  • , Leslie E. Oldfield
  • , Kirsten M. Farncombe
  • , Lillian Siu
  • , Stephanie Lheureux
  • , Sarah Ferguson
  • , Christine Elser
  • , Tulin Cil
  • , Shelley Westergard
  • , Emily Thain
  • , Hal Berman
  • , Wei Xu
  • , Celeste Yu
  • , Maia L. Norman
  • , Clarissa F. Chan
  • , Precious Uju
  • , Phil Bedard
  • , Blaise Clarke
  • , Jeanna McCuaig
  • , Aaron Pollett
  • , Melyssa Aronson
  • , Robert Gryfe
  • , Seema Panchal
  • , Carolyn Piccinin
  • , Thomas Ward
  • , Kara Semotiuk
  • , Jordan Lerner-Ellis
  • , Dean Regier
  • , Aly Karsan
  • , Kasmintan A. Schrader
  • , Pardeep Kaurah
  • , Sophie Sun
  •  & Sara Singh

Contributions

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.

Corresponding authors

Correspondence to Raymond H. Kim or Yvonne Bombard.

Ethics declarations

Competing interests

The authors declare no competing interests.

Ethical approval

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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