Quality of life drives patients’ preferences for secondary findings from genomic sequencing

Abstract

There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients’ preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF. Semi-structured interviews were conducted with adults with a personal or family cancer history participating in a trial of a decision aid for selection of SF from genomic sequencing (GS) (www.GenomicsADvISER.com). Interviews were analyzed thematically using constant comparison. Preserving health-related and non-health-related quality of life was an overarching motivator for both learning and not learning SF. Some participants perceived that learning SF would help them “have a good quality of life” through informing actions to maintain physical health or leading to psychological benefits such as emotional preparation for disease. Other participants preferred not to learn SF because results “could ruin your quality of life,” such as by causing negative psychological impacts. Measuring health-related and non-health-related quality of life may capture outcomes related to clinical and personal utility of GS and SF, which have previously been challenging to measure. Without appropriate measures, generating and synthesizing evidence to evaluate genomic technologies such as GS will continue to be a challenge, and will undervalue potential benefits of GS and SF.

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Fig. 1: Proposed relationship between personal utility, clinical utility, and quality of life.

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Acknowledgements

We would like to thank the following individuals for supporting this study: Carolyn Piccinin, Laura Winter-Paquette, Melyssa Aronson, Talia Mancuso, Justin Lorentz, Tracy Graham, Yael Silberman, Rochelle Demsky, Alexandra Volenik, Jeanna McCuaig, Oana Morar, Leslie Ordal, and Nicholas Watkins. We would like to thank Theresa H.M. Kim for her contributions to the statistical analysis and recruitment in the RCT. This research was supported by grants from the Canadian Institutes of Health Research (CIHR) and the University of Toronto McLaughlin Center awarded to YB (#333703 and MC-2016-04 respectively). YB was supported by a CIHR New Investigator Award during this study. CM received support from the Research Training Center at St. Michael’s Hospital, the Canadian Institutes of Health Research (#160968, GSD-164222) and a studentship funded by the Canadian Center for Applied Research in Cancer Control (ARCC). ARCC receives core funding from the Canadian Cancer Society (Grant #2015-703549). Finally, we would like to thank our interview participants for their time and valuable insights.

Incidental Genomics Study Team

Yvonne Bombard (PI),1,2 Susan Randall Armel,4,13 Melyssa Aronson,6,13 Nancy Baxter,1,2,14 Ken Bond,15 José-Mario Capo-Chichi,4,8 June C. Carroll,6,9 Timothy Caulfield,16,17,18 Marc Clausen,2 Tammy J. Clifford,19 Iris Cohn,20 Irfan Dhalla,1,2,5,21,22 Craig C. Earle,7,22,23 Andrea Eisen,7 Christine Elser,4,5,6 Mike Evans,2 Emily Glogowski,10 Tracy Graham,7 Jada G. Hamilton,24 Wanrudee Isaranuwatchai,1,2 Monika Kastner,1,2,9 Raymond H. Kim,4,5,6 Andreas Laupacis,1,2 Jordan Lerner-Ellis,6,8 Chantal F. Morel,4 Michelle Mujoomdar,25 Kenneth Offit,24 Seema Panchal,6 Mark Robson,24 Stephen W. Scherer,5,13,20 Adena Scheer,2,14 Kasmintan Schrader,11,12 Terrence Sullivan1 and Kevin E. Thorpe26,27

Funding

YB received funding for this study from Canadian Institutes of Health Research (CIHR, #333703), the University of Toronto McLaughlin Center (MC-2016-04) and a CIHR New Investigator Award. CM received support from the Research Training Center at St. Michael’s Hospital, CIHR (FRN #160968, FRN GSD-164222) and a studentship from the Canadian Center for Applied Research in Cancer Control (ARCC) which receives core funding from the Canadian Cancer Society (Grant #2015-703549).

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Correspondence to Yvonne Bombard.

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Mighton, C., Carlsson, L., Clausen, M. et al. Quality of life drives patients’ preferences for secondary findings from genomic sequencing. Eur J Hum Genet 28, 1178–1186 (2020). https://doi.org/10.1038/s41431-020-0640-x

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