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1.
Mol Genet Metab ; 111(4): 484-92, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24503138

RESUMEN

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder with widely varying presentations that has presented a significant challenge to newborn screening (NBS). The Western States Regional Genetics Services Collaborative developed a workgroup to study infants with NBS positive for VLCADD. We performed retrospective analysis of newborns with elevated C14:1-acylcarnitine on NBS in California, Oregon, Washington, and Hawai'i including available confirmatory testing and clinical information. Overall, from 2,802,504 children screened, there were 242 cases screen-positive for VLCADD. There were 34 symptomatic true positive cases, 18 asymptomatic true positives, 112 false positives, 55 heterozygotes, 11 lost to follow-up, and 12 other disorders. One in 11,581 newborns had an abnormal NBS for suspected VLCADD. Comparison of analytes and analyte ratios from the NBS demonstrated statistically significant differences between true positive and false positive groups for C14:1, C14, C14:1/C2, and C14:1/C16. The positive predictive value for all true positive cases was 94%, 54%, and 23% when C14:1 was ≥2.0 µM, ≥1.0 µM, and ≥0.7 µM, respectively. Sequential post-analytical analysis could reduce the referral rate in 25.8% of cases. This study is the largest reported follow-up of infants with NBS screen-positive results for suspected VLCADD and demonstrates the necessity of developing comprehensive and consistent long-term follow-up NBS systems. Application of clinical information revealed differences between symptomatic and asymptomatic children with VLCADD. Comparison of NBS analytes and analyte ratios may be valuable in developing more effective diagnostic algorithms.


Asunto(s)
Acil-CoA Deshidrogenasa de Cadena Larga/deficiencia , Errores Innatos del Metabolismo Lipídico/diagnóstico , Enfermedades Mitocondriales/diagnóstico , Enfermedades Musculares/diagnóstico , Tamizaje Neonatal/métodos , Carnitina/análogos & derivados , Carnitina/metabolismo , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Análisis Mutacional de ADN , Demografía , Ácidos Grasos/metabolismo , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Reproducibilidad de los Resultados
2.
Hawaii Med J ; 64(9): 239-43, 253, 2005 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16274162

RESUMEN

Seventy-seven of 247 (31.2%) Hawaii obstetricians completed a questionnaire about newborn metabolic screening (NBMS). Only 13.0% correctly answered the knowledge questions, and 81.8% reported that they did not discuss NBMS with patients. Of the minority of obstetricians who discuss NBMS, only 25.0% correctly answered the knowledge questions. The study results revealed that obstetricians need to receive appropriate NBMS education and be encouraged to discuss NBMS with their patients.


Asunto(s)
Competencia Clínica , Infecciones/diagnóstico , Enfermedades Metabólicas/diagnóstico , Tamizaje Neonatal/organización & administración , Rol del Médico , Actitud del Personal de Salud , Hawaii , Humanos , Recién Nacido , Infecciones/metabolismo , Errores Innatos del Metabolismo/diagnóstico , Obstetricia , Educación del Paciente como Asunto
3.
Am J Prev Med ; 41(6 Suppl 4): S384-9, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22099362

RESUMEN

BACKGROUND: Hawai'i has a diverse population, including many individuals of Asian descent. A relatively high proportion of Hawai'i infants are born with inherited hemoglobinopathies; about 2% have α-thalassemia trait. The Hawai'i Genetics Program engages in genetics services and public health activities, including a hemoglobinopathy clinic and provider education. PURPOSE: This study was undertaken to assess baseline pediatrician hemoglobinopathy knowledge that would then inform the development of education programs. METHODS: In 2008-2009, a brief survey assessed Hawai'i pediatrician hemoglobinopathy and newborn screening (NBS) knowledge. To place results in context, pediatricians in San Francisco (SF) and Salt Lake City (SLC) (similar and different patient demographics, respectively) were surveyed; 660 surveys were mailed to pediatricians from the NBS Program database (Hawai'i) or telephone listings (SF and SLC). Results were analyzed in 2011. Total and individual knowledge scores were calculated based on four questions. RESULTS: Overall, 226 (34%) pediatricians responded: 113 from Hawai'i, 54 from SF, and 59 from SLC (45%, 23%, and 34% response rates, respectively). Overall, 89.4% of participants had either good or perfect knowledge scores: 16% of participants had attended a hemoglobinopathy educational session in the past 6 months; 32.4% give iron to all anemic patients; 29% reported that ß-thalassemia is not detected by NBS, and 8% were unsure. Results identified significant knowledge differences regarding sickle cell disease and whether or not a complete blood count diagnoses α-thalassemia. CONCLUSIONS: Knowledge gaps between and within the pediatrician populations present opportunities for education regarding hemoglobinopathies and NBS panels. The results will inform the development of hemoglobinopathy education materials to assure a knowledgeable healthcare workforce in the growing area of genetics and newborn screening.


Asunto(s)
Competencia Clínica , Enfermedades Hematológicas/diagnóstico , Tamizaje Neonatal , Médicos , Educación Médica Continua , Femenino , Hawaii , Encuestas de Atención de la Salud , Enfermedades Hematológicas/genética , Humanos , Recién Nacido , Masculino
4.
Per Med ; 5(5): 521-528, 2008 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-20490368

RESUMEN

As genetic testing technology is integrated into healthcare, increasingly detailed information about individual and population genetic variation is available to patients and providers. Health professionals use genetic testing to diagnose or assess the risk of disease in individuals, families and populations and to guide healthcare decisions. Consumers are beginning to explore personalized genomic services in an effort to learn more about their risk for common diseases. Scientific and technological advances in genetic testing, as with any newly introduced medical technology, present certain challenges to existing frameworks of oversight. In addition, the growing use of genetic testing will require a significant investment in evidence-based assessments to understand the validity and utility of these tests in clinical and personal decisionmaking. To optimize the use of genetic testing in healthcare, all sectors of the oversight system need to be strengthened and yet remain flexible in order to adapt to advances that will inevitably increase the range of genetic tests and methodologies.

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