Great expectations: patients' preferences for clinically significant results from genomic sequencing.

Adult Humans Female Middle Aged Patient Preference Motivation Rare Diseases Genomics Neoplasms / genetics

Journal

Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873

Informations de publication

Date de publication:
Apr 2023
Historique:
received: 25 11 2022
accepted: 05 03 2023
medline: 26 5 2023
pubmed: 22 3 2023
entrez: 21 3 2023
Statut: ppublish

Résumé

We aimed to describe patient preferences for a broad range of secondary findings (SF) from genomic sequencing (GS) and factors driving preferences. We assessed preference data within a trial of the Genomics ADvISER, (SF decision aid) among adult cancer patients. Participants could choose from five categories of SF: (1) medically actionable; (2) polygenic risks; (3) rare diseases; (4) early-onset neurological diseases; and (5) carrier status. We analyzed preferences using descriptive statistics and drivers of preferences using multivariable logistic regression models. The 133 participants were predominantly European (74%) or East Asian or mixed ancestry (13%), female (90%), and aged > 50 years old (60%). The majority chose to receive SF. 97% (129/133) chose actionable findings with 36% (48/133) choosing all 5 categories. Despite the lack of medical actionability, participants were interested in receiving SF of polygenic risks (74%), carrier status (75%), rare diseases (59%), and early-onset neurologic diseases (53%). Older participants were more likely to be interested in receiving results for early-onset neurological diseases, while those exhibiting lower decisional conflict were more likely to select all categories. Our results highlight a disconnect between cancer patient preferences and professional guidelines on SF, such as ACMG's recommendations to only return medically actionable secondary findings. In addition to clinical evidence, future guidelines should incorporate patient preferences.

Identifiants

DOI: 10.1007/s00439-023-02543-3 PMID: 36943453
pubmed: 36943453
doi: 10.1007/s00439-023-02543-3
pii: 10.1007/s00439-023-02543-3
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

553-562

Subventions

Organisme : CIHR
ID : 425969
Pays : Canada
Organisme : CIHR
ID : 136664
Pays : Canada

Investigateurs

Yvonne Bombard Pi (Y)
Susan R Armel (SR)
Melyssa Aronson (M)
Nancy N Baxter (NN)
Kenneth Bond (K)
José-Mario Capo-Chichi (JM)
June C Carroll (JC)
Timothy Caulfield (T)
Marc Clausen (M)
Tammy Clifford (T)
Iris Cohn (I)
Irfan Dhalla (I)
Craig C Earle (CC)
Andrea Eisen (A)
Christine Elser (C)
Michael Evans (M)
Emily Glogowski (E)
Tracy Graham (T)
Elena Greenfield (E)
Jada G Hamilton (JG)
Wanrudee Isaranuwatchai (W)
Monica Kastner (M)
Raymond H Kim (RH)
Andreas Laupacis (A)
Jordan Lerner-Ellis (J)
Chantal F Morel (CF)
Michelle Mujoomdar (M)
Abdul Noor (A)
Kenneth Offit (K)
Seema Panchal (S)
Mark E Robson (ME)
Adena Scheer (A)
Stephen Scherer (S)
Kasmintan A Schrader (KA)
Terrence Sullivan (T)
Kevin E Thorpe (KE)

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Auteurs

Salma Shickh (S)

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.

Agnes Sebastian (A)

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.

Marc Clausen (M)

Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.

Chloe Mighton (C)

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada.

Christine Elser (C)

University Health Network, Toronto, ON, Canada.
Department of Medicine, University of Toronto, Toronto, ON, Canada.

Andrea Eisen (A)

Sunnybrook Health Sciences Centre, Toronto, ON, Canada.

Larissa Waldman (L)

Sunnybrook Health Sciences Centre, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.

Seema Panchal (S)

Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Marvelle Koffler Breast Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.

Thomas Ward (T)

Zane Cohen Centre, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.

June C Carroll (JC)

Ray D Wolfe Department of Family Medicine, Sinai Health, Toronto, ON, Canada.
Department of Family and Community Medicine, University of Toronto, Toronto, ON, Canada.

Emily Glogowski (E)

Sanofi Genzyme, New York, NY, USA.

Kasmintan A Schrader (KA)

BC Cancer, Vancouver, BC, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Jordan Lerner-Ellis (J)

Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Raymond H Kim (RH)

Department of Medicine, University of Toronto, Toronto, ON, Canada.
Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network and Sinai Health, Toronto, ON, Canada.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Ontario Institute for Cancer Research, Toronto, ON, Canada.

Kevin E Thorpe (KE)

Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Applied Health Research Centre, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.

Yvonne Bombard (Y)

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St. Michael's Hospital, Unity Health Toronto, 30 Bond Street, Toronto, ON, M5B 1W8, Canada. yvonne.bombard@utoronto.ca.
Ontario Institute for Cancer Research, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.
ORCID: 0000-0002-9516-4539

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Great expectations: patients' preferences for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Great expectations: patients' preferences for...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Great expectations: patients' preferences for...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Prestations des soins de santé › Attitude envers la santé › Adhésion et observance thérapeutiques › Préférence des patients › Great expectations: patients' preferences for...
questionsmedicales.fr › Comportement et mécanismes comportementaux › Personnalité › Intelligence › Intelligence émotionnelle › Motivation › Great expectations: patients' preferences for...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Great expectations: patients' preferences for...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Great expectations: patients' preferences for...
questionsmedicales.fr › Tumeurs › Great expectations: patients' preferences for...