How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.
J Gen Intern Med
; 33(6): 877-885, 2018 06.
Article
en En
| MEDLINE
| ID: mdl-29374360
ABSTRACT
BACKGROUND:
Genomics will play an increasingly prominent role in clinical medicine.OBJECTIVE:
To describe how primary care physicians (PCPs) discuss and make clinical recommendations about genome sequencing results.DESIGN:
Qualitative analysis.PARTICIPANTS:
PCPs and their generally healthy patients undergoing genome sequencing.APPROACH:
Patients received clinical genome reports that included four categories ofresults:
monogenic disease risk variants (if present), carrier status, five pharmacogenetics results, and polygenic risk estimates for eight cardiometabolic traits. Patients' office visits with their PCPs were audio-recorded, and summative content analysis was used to describe how PCPs discussed genomic results. KEYRESULTS:
For each genomic result discussed in 48 PCP-patient visits, we identified a "take-home" message (recommendation), categorized as continuing current management, further treatment, further evaluation, behavior change, remembering for future care, or sharing with family members. We analyzed how PCPs came to each recommendation by identifying 1) how they described the risk or importance of the given result and 2) the rationale they gave for translating that risk into a specific recommendation. Quantitative analysis showed that continuing current management was the most commonly coded recommendation across results overall (492/749, 66%) and for each individual result type except monogenic disease risk results. Pharmacogenetics was the most common result type to prompt a recommendation to remember for future care (94/119, 79%); carrier status was the most common type prompting a recommendation to share with family members (45/54, 83%); and polygenic results were the most common type prompting a behavior change recommendation (55/58, 95%). One-fifth of recommendation codes associated with monogenic results were for further evaluation (6/24, 25%). Rationales for these recommendations included patient context, family context, and scientific/clinical limitations of sequencing.CONCLUSIONS:
PCPs distinguish substantive differences among categories of genome sequencing results and use clinical judgment to justify continuing current management in generally healthy patients with genomic results.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Relaciones Médico-Paciente
/
Atención Primaria de Salud
/
Actitud del Personal de Salud
/
Pruebas Genéticas
/
Médicos de Atención Primaria
/
Toma de Decisiones Clínicas
Tipo de estudio:
Etiology_studies
/
Guideline
/
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Gen Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos