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

doi:10.1038/s41431-023-01473-y

. 2024 Feb;32(2):176-181.

doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11.

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

Ella Adi-Wauran^{1

2}, Marc Clausen¹, Salma Shickh^{1

2}, Anna R Gagliardi^{2

3}, Avram Denburg^{2

4}, Leslie E Oldfield⁵, Jordan Sam¹, Emma Reble¹, Suvetha Krishnapillai^{1

2}, Dean A Regier^{6

7}, Nancy N Baxter^{2

8

9}, Lesa Dawson^{10

11}, Lynette S Penney¹², William Foulkes^{13

14}, Mark Basik^{13

14}, Sophie Sun^{6

7}, Kasmintan A Schrader^{6

7}, Aly Karsan^{6

7}, Aaron Pollett¹⁵, Trevor J Pugh^{5

16}; CHARM consortium; Raymond H Kim^{17

18

19

20

21}, Yvonne Bombard^{22

23

24}

Collaborators, Affiliations

Collaborators

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

Affiliations

¹ Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada.
² Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Canada.
³ Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.
⁴ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.
⁵ Princess Margaret Cancer Centre, University Health Network, Toronto, Canada.
⁶ BC Cancer, Vancouver, Canada.
⁷ University of British Columbia, Vancouver, Canada.
⁸ Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
⁹ University of Toronto, Toronto, Canada.
¹⁰ Memorial University, St. John's, Canada.
¹¹ Eastern Health Authority, St. John's, Canada.
¹² Dalhousie University, Halifax, Canada.
¹³ McGill University, Montréal, Canada.
¹⁴ Jewish General Hospital, Montréal, Canada.
¹⁵ Mount Sinai Hospital, Toronto, Canada.
¹⁶ Ontario Institute for Cancer Research, Toronto, Canada.
¹⁷ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada. raymond.kim@uhn.ca.
¹⁸ Princess Margaret Cancer Centre, University Health Network, Toronto, Canada. raymond.kim@uhn.ca.
¹⁹ University of Toronto, Toronto, Canada. raymond.kim@uhn.ca.
²⁰ Mount Sinai Hospital, Toronto, Canada. raymond.kim@uhn.ca.
²¹ Ontario Institute for Cancer Research, Toronto, Canada. raymond.kim@uhn.ca.
²² Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada. yvonne.bombard@utoronto.ca.
²³ Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Canada. yvonne.bombard@utoronto.ca.
²⁴ Ontario Institute for Cancer Research, Toronto, Canada. yvonne.bombard@utoronto.ca.

PMID: 37821757
PMCID: PMC10853540 (available on 2025-02-01)
DOI: 10.1038/s41431-023-01473-y

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

Ella Adi-Wauran et al. Eur J Hum Genet. 2024 Feb.

. 2024 Feb;32(2):176-181.

doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11.

Authors

Collaborators

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

Affiliations

¹ Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada.
² Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Canada.
³ Toronto General Hospital Research Institute, University Health Network, Toronto, Canada.
⁴ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada.
⁵ Princess Margaret Cancer Centre, University Health Network, Toronto, Canada.
⁶ BC Cancer, Vancouver, Canada.
⁷ University of British Columbia, Vancouver, Canada.
⁸ Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
⁹ University of Toronto, Toronto, Canada.
¹⁰ Memorial University, St. John's, Canada.
¹¹ Eastern Health Authority, St. John's, Canada.
¹² Dalhousie University, Halifax, Canada.
¹³ McGill University, Montréal, Canada.
¹⁴ Jewish General Hospital, Montréal, Canada.
¹⁵ Mount Sinai Hospital, Toronto, Canada.
¹⁶ Ontario Institute for Cancer Research, Toronto, Canada.
¹⁷ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada. raymond.kim@uhn.ca.
¹⁸ Princess Margaret Cancer Centre, University Health Network, Toronto, Canada. raymond.kim@uhn.ca.
¹⁹ University of Toronto, Toronto, Canada. raymond.kim@uhn.ca.
²⁰ Mount Sinai Hospital, Toronto, Canada. raymond.kim@uhn.ca.
²¹ Ontario Institute for Cancer Research, Toronto, Canada. raymond.kim@uhn.ca.
²² Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada. yvonne.bombard@utoronto.ca.
²³ Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, Canada. yvonne.bombard@utoronto.ca.
²⁴ Ontario Institute for Cancer Research, Toronto, Canada. yvonne.bombard@utoronto.ca.

PMID: 37821757
PMCID: PMC10853540 (available on 2025-02-01)
DOI: 10.1038/s41431-023-01473-y

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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Conflict of interest statement

The authors declare no competing interests.

Cited by

Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
Farncombe KM, Wong D, Norman ML, Oldfield LE, Sobotka JA, Basik M, Bombard Y, Carile V, Dawson L, Foulkes WD, Malkin D, Karsan A, Parkin P, Penney LS, Pollett A, Schrader KA, Pugh TJ, Kim RH; CHARM consortium. Farncombe KM, et al. Am J Hum Genet. 2023 Oct 5;110(10):1616-1627. doi: 10.1016/j.ajhg.2023.08.014. Am J Hum Genet. 2023. PMID: 37802042 Free PMC article. Review.

References

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1. Petrucelli N, Daly MB, Pal T BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. Published online 2022:1–37.
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[1] Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. 2005;23:276–92. doi: 10.1200/JCO.2005.10.042. - DOI - PubMed

[2] Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. 2005;23:276–92. doi: 10.1200/JCO.2005.10.042. - DOI - PubMed

[3] Petrucelli N, Daly MB, Pal T BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. Published online 2022:1–37.

[4] Petrucelli N, Daly MB, Pal T BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. GeneReviews. Published online 2022:1–37.

[5] Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med. 2020;22:15–25. doi: 10.1038/s41436. - DOI - PMC - PubMed

[6] Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med. 2020;22:15–25. doi: 10.1038/s41436. - DOI - PMC - PubMed

[7] Barrow E, Hill J, Gareth D. Cancer risk in Lynch Syndrome. Fam Cancer. 2013;12:229–40. doi: 10.1007/s10689-013-9615-1. - DOI - PubMed

[8] Barrow E, Hill J, Gareth D. Cancer risk in Lynch Syndrome. Fam Cancer. 2013;12:229–40. doi: 10.1007/s10689-013-9615-1. - DOI - PubMed

[9] Rabeneck L, Paszat LF, Saskin R, Stukel TA. Association between colonoscopy rates and colorectal cancer mortality. Am J Gastroenterol. 2010:1–6. 10.1038/ajg.2010.83 - PubMed

[10] Rabeneck L, Paszat LF, Saskin R, Stukel TA. Association between colonoscopy rates and colorectal cancer mortality. Am J Gastroenterol. 2010:1–6. 10.1038/ajg.2010.83 - PubMed

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

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

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