RESUMEN
BACKGROUND: We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and clinical outcomes. METHODS/DESIGN: Eligible patients are aged 21 to 65 years with body mass index (BMI) ≥27 kg/m(2) and no prior diagnosis of DM. At baseline, conventional DM risk factors are assessed, and blood is drawn for possible genetic testing. Participants are randomized to receive conventional risk counseling for DM with eye disease counseling or with genetic test results. The counseling protocol was pilot tested to identify an acceptable graphical format for conveying risk estimates and match the length of the eye disease to genetic counseling. Risk estimates are presented with a vertical bar graph denoting risk level with colors and descriptors. After receiving either genetic counseling regarding risk for DM or control counseling on eye disease, brief lifestyle counseling for prevention of DM is provided to all participants. DISCUSSION: A standardized risk counseling protocol is being used in a randomized trial of 600 participants. Results of this trial will inform policy about whether risk counseling should include genetic counseling. TRIAL REGISTRATION: ClinicalTrials.gov Identifier NCT01060540.
Asunto(s)
Diabetes Mellitus Tipo 2/diagnóstico , Asesoramiento Genético , Pruebas Genéticas , Conductas Relacionadas con la Salud , Conocimientos, Actitudes y Práctica en Salud , Proyectos de Investigación , Adulto , Anciano , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/prevención & control , Diabetes Mellitus Tipo 2/psicología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , North Carolina , Selección de Paciente , Valor Predictivo de las Pruebas , Medición de Riesgo , Factores de Riesgo , Conducta de Reducción del Riesgo , Factores de Tiempo , Adulto JovenRESUMEN
We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the occurrence of hepatomegaly, delaying diagnosis. Tetraglucoside excretion correlated with disease severity and was used to follow compliance. The clinical presentation and therapeutic requirements in the same mutation carriers were variable, and PhK deficiency necessitated tube-feeding in some children.
