Health-care referrals from direct-to-consumer genetic testing.
Genet Test Mol Biomarkers
; 14(6): 817-9, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20979566
ABSTRACT
BACKGROUND:
direct-to-consumer genetic testing (DTC-GT) provides personalized genetic risk information directly to consumers. Little is known about how and why consumers then communicate the results of this testing to health-care professionals.AIM:
to query specialists in clinical genetics about their experience with individuals who consulted them after DTC-GT.METHODS:
invitations to participate in a questionnaire were sent to three different groups of genetic professionals, totaling 4047 invitations, asking questions about individuals who consulted them after DTC-GT. For each case reported, respondents were asked to describe how the case was referred to them, the patient's rationale for DTC-GT, and the type of DTC-GT performed. Respondents were also queried about the consequences of the consultations in terms of additional testing ordered. The costs associated with each consultation were estimated. A clinical case series was compiled based upon clinician responses.RESULTS:
the invitation resulted in 133 responses describing 22 cases of clinical interactions following DTC-GT. Most consultations (59.1%) were self-referred to genetics professionals, but 31.8% were physician referred. Among respondents, 52.3% deemed the DTC-GT to be "clinically useful." BRCA1/2 testing was considered clinically useful in 85.7% of cases; 35.7% of other tests were considered clinically useful. Subsequent referrals from genetics professionals to specialists and/or additional diagnostic testing were common, generating individual downstream costs estimated to range from $40 to $20,600.CONCLUSIONS:
this clinical case series suggests that approximately half of clinical geneticists who saw patients after DTC-GT judged that testing was clinically useful, especially the BRCA1/2 testing. Further studies are needed in larger and more diverse populations to better understand the interactions between DTC-GT and the health-care system.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Derivación y Consulta
/
Pruebas Genéticas
/
Acceso a la Información
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Estados Unidos