"Doctors shouldn't have to cheat the system": Clinicians' real-world experiences of the utility of genomic sequencing.
Genet Med
; 24(9): 1888-1898, 2022 09.
Article
em En
| MEDLINE
| ID: mdl-35612591
ABSTRACT
PURPOSE:
Emerging genetic tests such as genomic sequencing (GS) can generate a broad range of benefits, but funding criteria only prioritize diagnosis and clinical management. There is limited evidence on all types of benefits obtained from GS in practice. We aimed to explore real-world experiences of Canadian clinicians across specialties on the full range of benefits obtained from the results from GS.METHODS:
We conducted a qualitative study using semistructured interviews with Canadian clinicians. Transcripts were thematically analyzed using constant comparison.RESULTS:
In total, 25 clinicians participated, including 12 geneticists, 7 genetic counselors, 4 oncologists, 1 neurologist, and 1 family physician. Although diagnoses and management were the most valued benefits of GS, clinicians also prioritized nontraditional utility, such as access to community supports. However, clinicians felt "restricted" by funding bodies, which only approved funding when GS would inform diagnoses and management. Consequently, clinicians sought ways to "cheat the system" to access GS (eg, research testing) but acknowledged workarounds were burdensome, drove inequity, and undermined patient care.CONCLUSION:
Current governance structures undervalue real-world benefits of GS leading clinicians to adopt workarounds, which jeopardize patient care. These results support calls for the expansion of the definition of clinical utility and research to quantify the additional benefits.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Conselheiros
Tipo de estudo:
Prognostic_studies
/
Qualitative_research
Limite:
Humans
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article