Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.

Adult Child Emotions Genomics Humans Models, Theoretical Parents / psychology Patient-Centered Care Qualitative Research

Journal

The patient
ISSN: 1178-1661
Titre abrégé: Patient
Pays: New Zealand
ID NLM: 101309314

Informations de publication

Date de publication:
05 2022
Historique:
accepted: 27 09 2021
pubmed: 19 10 2021
medline: 18 5 2022
entrez: 18 10 2021
Statut: ppublish

Résumé

Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds. We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback. Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each. We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.

Sections du résumé

BACKGROUND AND OBJECTIVES
Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds.
METHODS
We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback.
RESULTS
Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each.
CONCLUSION
We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.

Identifiants

DOI: 10.1007/s40271-021-00558-4 PMID: 34658003 PMC: PMC9013723
pubmed: 34658003
doi: 10.1007/s40271-021-00558-4
pii: 10.1007/s40271-021-00558-4
pmc: PMC9013723
mid: NIHMS1758693
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

317-328

Subventions

Organisme : NHGRI NIH HHS
ID : U01 HG009599
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007292
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG006485
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007307
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG006487
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007301
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG009610
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG008753
Pays : United States

Informations de copyright

© 2021. The Author(s), under exclusive licence to Springer Nature Switzerland AG.

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Auteurs

Hadley Stevens Smith (HS)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA. hadley.smith@bcm.edu.
ORCID: 0000-0003-1247-6535

Stephanie R Morain (SR)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.

Jill Oliver Robinson (JO)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.

Isabel Canfield (I)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.

Janet Malek (J)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.

Caryn Kseniya Rubanovich (CK)

San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA, USA.

Cinnamon S Bloss (CS)

Herbert Wertheim School of Public Health, University of California San Diego, San Diego, CA, USA.

Sara L Ackerman (SL)

Department of Social and Behavioral Sciences, University of California, San Francisco, CA, USA.

Barbara Biesecker (B)

RTI International, Washington, DC, USA.

Kyle B Brothers (KB)

Department of Pediatrics, University of Louisville School of Medicine, Louisville, KY, USA.

Crispin N Goytia (CN)

Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Carol R Horowitz (CR)

Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn School of Medicine at Mount Sinai, Institute for Health Equity Research, New York, NY, USA.

Sara J Knight (SJ)

Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.

Barbara Koenig (B)

Program in Bioethics, University of California, San Francisco, CA, USA.

Stephanie A Kraft (SA)

Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute and Hospital, Seattle, WA, USA.
Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

Simon Outram (S)

Program in Bioethics, University of California, San Francisco, CA, USA.

Christine Rini (C)

Department of Medical Social Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL, USA.

Kelly J Shipman (KJ)

Palliative Care and Resilience Lab, Seattle Children's, Seattle, WA, USA.

Margaret Waltz (M)

Department of Social Medicine, UNC-Chapel Hill School of Medicine, Chapel Hill, NC, USA.

Benjamin Wilfond (B)

Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute and Hospital, Seattle, WA, USA.
Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

Amy L McGuire (AL)

Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Comportement et mécanismes comportementaux › Émotions › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Personnes › Parents › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Services de santé polyvalents › Soins de santé primaires › Soins centrés sur le patient › Perceived Utility of Genomic Sequencing:...
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Recherche empirique › Recherche qualitative › Perceived Utility of Genomic Sequencing:...