How does personal utility depend on clinical setting? Evidence from 3 cohorts

Elise Poole¹, Stephanie Luca¹, Daniel Assamad^{1

2}, Bowen Xiao¹, Joyce Yan¹, Yue Yin Xia³, Lesleigh S Abbott⁴, Linlea Armstrong^{5

6}, Patricia Birch^{5

7}, Kym M Boycott⁸, June C Carroll⁹, Lauren Chad^{10

11

12}, David Chitayat^{3

13

14}, Avram Denburg^{1

2

15}, Rebecca J Deyell^{5

16}, Alison M Elliott⁵, Catherine Goudie¹⁷, Anne-Marie Laberge¹⁸, Melissa Maio¹⁹, Iskra T Peltekova^{11

20}, Becky Quinlan²¹, Sarah L Sawyer⁸, Rachel Silver¹³, Maureen Smith²², Ronni Teitelbaum¹⁹, Anita Villani^{11

15}, Wendy J Ungar^{1

2}, Robin Z Hayeems^{1

2}; P-GUIDE Study Team

Collaborators, Affiliations

Collaborators

P-GUIDE Study Team:
Andrea Staines, Bailey Gallinger, Claire Newman, Elisabeth Soubry, Grace Tam, Gregory Costain, Kimberly Seath, Kristal Louie, Nada Quercia, Nicole Gojska, Olivia M Moran, Rosemarie E Venier, Simina McDermott, Stephanie Hedges, Tami Uster, Tithi Paul

Affiliations

¹ Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
² The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
³ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁴ Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁵ British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.
⁶ Division of Medical Genetics, British Columbia Children's Hospital, Vancouver, BC, Canada.
⁷ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
⁸ Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁹ Department of Family and Community Medicine, Sinai Health, University of Toronto, Toronto, ON, Canada.
¹⁰ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
¹¹ Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
¹² Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada.
¹³ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
¹⁴ Department of Genetic Counseling, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁵ Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁶ Division of Pediatric Hematology/Oncology/BMT, British Columbia Children's Hospital, Vancouver, BC, Canada.
¹⁷ Department of Pediatrics, Division of Hematology-Oncology, McGill University Health Centre, Montreal, QC, Canada.
¹⁸ Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada.
¹⁹ Mackenzie Richmond Hill Hospital, Richmond Hill, ON, Canada.
²⁰ Division of Developmental Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
²¹ Patient Partner, Ontario Genetics Advisory Committee, Ontario Health.
²² Patient Partner, Canadian Organization for Rare Disorders.

PMID: 41089267
PMCID: PMC12516041
DOI: 10.1016/j.gimo.2025.103453

How does personal utility depend on clinical setting? Evidence from 3 cohorts

Elise Poole et al. Genet Med Open. 2025.

. 2025 Sep 3:3:103453.

doi: 10.1016/j.gimo.2025.103453. eCollection 2025.

Authors

Collaborators

P-GUIDE Study Team:
Andrea Staines, Bailey Gallinger, Claire Newman, Elisabeth Soubry, Grace Tam, Gregory Costain, Kimberly Seath, Kristal Louie, Nada Quercia, Nicole Gojska, Olivia M Moran, Rosemarie E Venier, Simina McDermott, Stephanie Hedges, Tami Uster, Tithi Paul

Affiliations

¹ Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
² The Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
³ Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
⁴ Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁵ British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.
⁶ Division of Medical Genetics, British Columbia Children's Hospital, Vancouver, BC, Canada.
⁷ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
⁸ Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
⁹ Department of Family and Community Medicine, Sinai Health, University of Toronto, Toronto, ON, Canada.
¹⁰ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
¹¹ Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
¹² Department of Bioethics, The Hospital for Sick Children, Toronto, ON, Canada.
¹³ The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
¹⁴ Department of Genetic Counseling, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁵ Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁶ Division of Pediatric Hematology/Oncology/BMT, British Columbia Children's Hospital, Vancouver, BC, Canada.
¹⁷ Department of Pediatrics, Division of Hematology-Oncology, McGill University Health Centre, Montreal, QC, Canada.
¹⁸ Division of Medical Genetics, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada.
¹⁹ Mackenzie Richmond Hill Hospital, Richmond Hill, ON, Canada.
²⁰ Division of Developmental Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.
²¹ Patient Partner, Ontario Genetics Advisory Committee, Ontario Health.
²² Patient Partner, Canadian Organization for Rare Disorders.

PMID: 41089267
PMCID: PMC12516041
DOI: 10.1016/j.gimo.2025.103453

Abstract

Purpose: Evidence of personal utility of genetic testing is critical to clinical care, funding, and policy decisions. We aimed to understand how patient-oriented values and preferences for genetic testing vary across clinical settings to inform the development of a personal utility index.

Methods: Participants were recruited from 3 clinical settings: pediatric clinical genetics, pediatric oncology, and prenatal care. For each cohort, a preliminary set of domains and elements of utility were generated from the literature. Semi-structured interviews were conducted with parents to understand the meaning of personal utility and relevance of preliminary domains and elements. Deductive coding identified shared and unique elements of utility across cohorts.

Results: A total of 63 parents were interviewed. Personal utility domains that resonated with participants included cognitive, medical management, affective, behavioral, and social. Common elements included increased understanding about the cause of their child's condition and contributing to scientific knowledge. Unique elements were identified in each cohort: identifying support services in clinical genetics, understanding cancer risks in oncology, and pregnancy decision making in prenatal care.

Conclusion: We identified shared and unique elements of personal utility across cohorts from 3 clinical settings, suggesting the need to tailor utility assessment to the clinical setting and patient population.

Keywords: Clinical genetics; Genetic testing; Oncology; Personal utility; Prenatal care.

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Conflict of interest statement

Robin Z. Hayeems is a member of the Ontario Genetics Advisory Committee, tasked to review health technology assessments and make funding recommendations on genetic technologies in Ontario. Wendy J. Ungar chairs the Ontario Genetics Advisory Committee and is a member of the Ontario Health Technology Assessment Committee and does not receive compensation for these roles. She has received grant funding from the 10.13039/100001797Pharmaceutical Research and Manufacturers of America Foundation, honoraria from the Taiwan Center for Drug Evaluation, the 10.13039/100023195Canadian Fertility and Andrology Society and the 10.13039/501100006419EuroQol Research Foundation, and consulting income from Broadstreet HEOR. All other authors declare no conflicts of interest.

Figures

**Figure 1**
**Elements of personal utility across cohorts.** Common elements of utility were identified across all cohorts. These elements represent ideas that span clinical settings and represent core components of personal utility. Unique elements of utility were also identified within each cohort. Additionally, some elements of utility were shared between 2 cohorts but were not identified in the third cohort. The percentage of participants that endorsed an element as relevant are noted beside each element, respectively.

See this image and copyright information in PMC

References

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How does personal utility depend on clinical setting? Evidence from 3 cohorts

Collaborators

Affiliations

How does personal utility depend on clinical setting? Evidence from 3 cohorts

Authors

Collaborators

Affiliations

Abstract

Conflict of interest statement

Figures

References

LinkOut - more resources

Full Text Sources