Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing.
Access to Information
Adult
Attitude of Health Personnel
Child
Ethics, Clinical
Genetic Counseling
Genetic Predisposition to Disease
Genetic Research
/ ethics
Genetic Testing
/ ethics
Genomics
Health Personnel
Humans
Informed Consent
Qualitative Research
Risk Assessment
Sequence Analysis, DNA
Surveys and Questionnaires
Genetic research
clinical genetics
human subjects research
informed consent
medicine
Journal
AJOB empirical bioethics
ISSN: 2329-4523
Titre abrégé: AJOB Empir Bioeth
Pays: United States
ID NLM: 101631047
Informations de publication
Date de publication:
Historique:
pubmed:
6
10
2020
medline:
30
9
2021
entrez:
5
10
2020
Statut:
ppublish
Résumé
While integrating genomic sequencing into clinical care carries clear medical benefits, it also raises difficult ethical questions. Compared to traditional sequencing technologies, genomic sequencing and analysis is more likely to identify unsolicited findings (UF) and variants that cannot be classified as benign or disease-causing (variants of uncertain significance; VUS). UF and VUS pose new challenges for genetic health professionals (GHPs) who are obtaining informed consent for genomic sequencing from patients. We conducted semi-structured interviews with 31 GHPs across Europe, Australia and Canada to identify some of these challenges. Our results show that GHPs find it difficult to prepare patients to receive results because a vast amount of information is required to fully inform patients about VUS and UF. GHPs also struggle to engage patients - many of whom may be focused on ending their 'diagnostic odyssey' - in the informed consent process in a meaningful way. Thus, some questioned how 'informed' patients actually are when they agree to undergo clinical genomic sequencing. These findings suggest a tension remains between sufficient information provision at the risk of overwhelming the patient and imparting less information at the risk of uninformed decision-making. We suggest that a shift away from 'fully informed consent' toward an approach aimed at realizing, as far as possible, the underlying goals that informed consent is meant to promote.
Sections du résumé
BACKGROUND
While integrating genomic sequencing into clinical care carries clear medical benefits, it also raises difficult ethical questions. Compared to traditional sequencing technologies, genomic sequencing and analysis is more likely to identify unsolicited findings (UF) and variants that cannot be classified as benign or disease-causing (variants of uncertain significance; VUS). UF and VUS pose new challenges for genetic health professionals (GHPs) who are obtaining informed consent for genomic sequencing from patients.
METHODS
We conducted semi-structured interviews with 31 GHPs across Europe, Australia and Canada to identify some of these challenges.
RESULTS
Our results show that GHPs find it difficult to prepare patients to receive results because a vast amount of information is required to fully inform patients about VUS and UF. GHPs also struggle to engage patients - many of whom may be focused on ending their 'diagnostic odyssey' - in the informed consent process in a meaningful way. Thus, some questioned how 'informed' patients actually are when they agree to undergo clinical genomic sequencing.
CONCLUSIONS
These findings suggest a tension remains between sufficient information provision at the risk of overwhelming the patient and imparting less information at the risk of uninformed decision-making. We suggest that a shift away from 'fully informed consent' toward an approach aimed at realizing, as far as possible, the underlying goals that informed consent is meant to promote.
Identifiants
pubmed: 33017265
doi: 10.1080/23294515.2020.1823906
pmc: PMC8120994
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
12-23Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 104848/Z/14/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 104848/Z/14
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203132/Z/16/Z
Pays : United Kingdom
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