Core Clinical Data Elements for Cancer Genomic Repositories: A Multi-stakeholder Consensus.

The Center for Medical Technology Policy and the Molecular Evidence Development Consortium gathered a diverse group of more than 50 stakeholders to develop consensus on a core set of data elements and values essential to understanding the clinical utility of molecularly targeted therapies in oncology.

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.

OBJECTIVE: Hereditary cancer testing guidelines are based on the premise that the common hereditary cancer syndromes have distinct, recognizable phenotypes. However, many syndromes present with overlapping cancers. The aim of this analysis was to identify the proportion of patients tested for Lynch syndrome (LS) or hereditary breast and ovarian cancer (HBOC) who met testing criteria for the other syndrome. METHOD: We analyzed a commercial laboratory database of patients tested for LS and HBOC in a clinical setting from 2006 to 2013. Patient cancer histories were analyzed using the 2012 NCCN criteria for LS and the 2013 NCCN criteria for HBOC. RESULTS: In all, 7% of the patients tested for HBOC met criteria for LS testing. The majority of these patients had a family history of colorectal (30.9%) and/or endometrial cancer (22.7%). Conversely, 29.5% of the patients tested for LS met criteria for HBOC testing. In this group, 30.5% of the patients had a personal history of breast cancer, and 12.6% had a personal history of ovarian cancer. CONCLUSIONS: Our data demonstrate a substantial phenotypic overlap among patients for multiple common inherited cancer syndromes, which likely complicates diagnosis and test selection. This supports the value of multigene panels to identify pathogenic mutations in the absence of a clinically specific phenotype.

Pretreatment costs of care and time to initial treatment for patients with cancer of unknown primary.

AIM: Time to treatment and pretreatment costs may be affected by unknown primary tumor site. METHODS: This retrospective study used electronic medical record data from patients in ten US community oncology practices. Eligible patients were ≥18 years, diagnosed with cancer of unknown primary (CUP) or known metastatic solid tumor, and presented between 1 January 2012 and 30 June 2014. RESULTS: Patients with CUP (n = 294) had a longer interval than non-CUP patients (n = 92) from presentation to treatment initiation (1.18 vs 0.49 months, p < 0.0001), and had higher pretreatment costs (US$27,882 vs US$20,449, p = 0.0075). When analyzed as monthly cost, the difference between groups in log-cost per month was nonsignificant. CONCLUSION: Higher pretreatment costs in CUP patients appeared attributable to significantly longer time to initiation of therapy.

Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing.

AIM: To evaluate one laboratory's hereditary cancer testing clinical quality assurance (QA) process to minimize test-ordering errors. METHODS: The proportion of tests canceled/revised due to pre-analytic QA processes or provider consultation prior to test ordering were determined and the resulting health cost savings were estimated. RESULTS: Over 2000 genetic test orders were canceled/revised over a 1-year period due to the laboratory QA process, saving US$5,801,832 in healthcare costs. Consultation with healthcare providers prior to submitting genetic test requests resulted in 37 canceled/revised test orders in a 2-week period, which extrapolates to a savings of US$3,049,098 over 1 year. CONCLUSION: QA processes can contribute to the curtailment of healthcare costs through canceling or revising test orders.

Prevalencia de las cardiopatías congénitas en un hospital de la ciudad de Manizales, Colombia, años 2000 y 2008 / Prevalence of congenital heart disease in a hospital from Manizales, Colombia between 2000 and 2008

Objetivo: Identificar la prevalencia, la edad al momento del diagnóstico, la prevalencia según el género, determinar los métodos diagnósticos más utilizados, el tratamiento recibido, y la evolución de los pacientes hospitalizados por cardiopatías congénitas en el Hospital Infantil Universitario “Rafael Henao Toro” de la ciudad de Manizales (Colombia).Materiales y métodos: Se realizó un estudio de corte transversal en el cual se analizaron, desde agosto de 2008 hasta febrero de 2009, 105 historias clínicas de pacientes diagnosticados con cardiopatías congénitas entre los años 2000 y 2008.Resultados: De 105 pacientes, 51.4 porciento eran de género femenino; 67.6% provenían de área urbana; la mayor prevalencia se dio en comunicación interauricular 48.6%; en el 99.0% de los casos se usó la ecocardiografia bidimensional como método diagnóstico paraclínico; el 28.6 por ciento usó la furosemida como tratamiento médico. La población presentó una sobrevida del 87.6 por ciento.Conclusiones: Este estudio mostró que las cardiopatías congénitas de mayor prevalecía fueron comunicación interauricular 48.6 por ciento y comunicación intraventricular (46.7 por ciento), y en el género femenino 51.4 por ciento...