RESUMO
Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genetic counseling approaches driven by personal/family history criteria. Regular automated searches of a centralized tumor DNA variant database were performed for ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PALB2, and/or PMS2 variants, and germline hereditary cancer gene panel testing was offered to patients with tumor variants who had never undergone germline testing. Patients completing germline testing due to their tumor DNA test results were considered part of the tumor DNA safety net. Patients previously completing germline testing via traditional genetic counseling and tumor DNA safety net were compared for demographics, tumor type, presence of germline pathogenic/likely pathogenic (P/LP) variant, and whether NCCN criteria were met for hereditary cancer genetic testing. Germline P/LP variants were common in both groups. Patients who received germline testing through traditional genetic counseling were more likely to have cardinal hereditary tumors than the tumor DNA safety net group. Patients identified with hereditary cancer through traditional genetic counseling were more likely to meet NCCN personal/family history criteria for germline testing than the tumor DNA safety net group (99% versus 34%). A universal tumor DNA safety net screen is an important diagnostic strategy which augments traditional genetic counseling approaches based on personal/family history.
Assuntos
Predisposição Genética para Doença , Síndromes Neoplásicas Hereditárias , Humanos , Sistemas Pré-Pagos de Saúde , Detecção Precoce de Câncer , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Síndromes Neoplásicas Hereditárias/genéticaRESUMO
OBJECTIVE: To prospectively determine the impact of noninvasive prenatal testing (NIPT) on invasive procedure utilization in a managed care setting and to elucidate women's views. METHODS: Pregnant women at 10- 20 weeks' gestation with high-risk indications for fetal aneuploidy in the Kaiser Permanente Southern California organization were eligible. Enrolled patients received routine prenatal counseling, completed a questionnaire and were offered the option of NIPT by a genetic counselor. Downstream data through 28 weeks' gestation were collected from the electronic medical record (EMR). The EMR was also used to identify a matched historical cohort from 1 year prior to NIPT availability. Rates of invasive prenatal procedures were compared using McNemar's test. RESULTS: Two hundred women completed the questionnaire and underwent NIPT. Twenty-two subjects (11%) in the prospective cohort underwent an invasive prenatal procedure compared with 58 (29%) in the historical cohort (p<0.0001). Safety and accuracy were the most important factors in considering NIPT. At the time of survey, only 12% indicated being very comfortable with the possibility of undergoing amniocentesis. CONCLUSION: This prospective study demonstrates a 62% reduction in invasive prenatal procedures after NIPT testing and finds safety, accuracy, and personal beliefs key to women's decision-making.
Assuntos
Amniocentese/estatística & dados numéricos , Atitude Frente a Saúde , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Transtornos Cromossômicos/sangue , DNA/sangue , Testes Genéticos , Diagnóstico Pré-Natal , Adolescente , Adulto , Aneuploidia , California , Transtornos Cromossômicos/diagnóstico , Estudos de Coortes , Tomada de Decisões , Feminino , Humanos , Programas de Assistência Gerenciada , Pessoa de Meia-Idade , Gravidez , Estudos Prospectivos , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVE: Although Remicade (infliximab) is costly relative to non-biologic therapy, its impact on healthcare resource utilization and mucosal healing may make it a cost-effective option. This study aimed to compare gastrointestinal (GI)-related healthcare resource utilization and severity of mucosal damage before and during infliximab therapy in Crohn's disease (CD) or ulcerative colitis (UC) patients. METHODS: A retrospective chart review was conducted at 14 gastroenterology practices from across the country, which varied in practice sizes and types. Patients were aged ≥18 years, diagnosed with CD or UC, and had an infliximab index date between January 1, 2005 and September 30, 2007. GI-related utilization 12 months before and 12 months after the index date was compared. Endoscopic disease severity was categorized based on blinded review of abstracted reports. RESULTS: Results from 268 patients indicated significantly lower rates of surgery (29.7% to 9.9%, p < 0.0001, CD; 24.4% to 12.8%, p = 0.042, UC) and colonoscopy (54.4% to 17.6%, p < 0.0001, CD; 50.0% to 22.1%, p = 0.0007, UC) during infliximab therapy. The rates of hospitalizations in UC (15.1% to 3.5%, p = 0.0124) and radiology assessments in CD (23.1% to 10.4%, p = 0.006) also decreased. Based on severity data from 183 procedures, greater proportions of patients had normal or mild ratings during infliximab treatment compared with pre-treatment. LIMITATIONS: This retrospective descriptive study is limited by the type and quantity of information available in patient charts from 14 gastroenterology clinics during the first year of infliximab treatment. In addition, the number of patients with pre-treatment and post-treatment disease severity information was too small to make comparisons among disease severity groups. Further information about the severity of disease and the extent of mucosal healing could be helpful in determining the effect of therapy on resource utilization in future research. CONCLUSIONS: GI-related resource utilization was significantly lower and attenuation of mucosal damage severity was observed during infliximab treatment compared with the pre-treatment period.
Assuntos
Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Recursos em Saúde/estatística & dados numéricos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Adulto , Anti-Inflamatórios/administração & dosagem , Anticorpos Monoclonais/administração & dosagem , Feminino , Humanos , Doenças Inflamatórias Intestinais/fisiopatologia , Doenças Inflamatórias Intestinais/cirurgia , Infliximab , Masculino , Auditoria Médica , Pessoa de Meia-Idade , Estudos Retrospectivos , Estados UnidosRESUMO
OBJECTIVE: Infliximab dosing for inflammatory bowel disease (IBD) is based on patient weight and treatment response. Understanding dosing patterns may provide insight into treatment response and predictability of treatment cost. The purpose of this medical record review was to assess dose and dose frequency of infliximab maintenance treatment in patients with IBD using patient chart data. METHODS: A retrospective chart review was conducted at 14 community gastroenterology clinics (GI clinics). Patients were aged ≥18 years, diagnosed with Crohn's disease (CD) or ulcerative colitis (UC), and had a first infliximab administration (index date) between January 1, 2005 and September 30, 2007. At least 24 months of continuous data availability were required with dosing data collected for 12 months after initiation of infliximab therapy. Patients with biologic use and/or participation in an IBD clinical trial within 12 months before the index date were excluded. RESULTS: Charts from 182 CD patients and 86 UC patients were analyzed. About half of the patients were female. Over 90% of patients initiated treatment with infliximab 5 mg/kg. Among CD patients and UC patients, respectively, 79% and 61% continued receiving this dose for maintenance therapy at stable intervals. LIMITATIONS: This retrospective descriptive study is limited by the type and quantity of information available in patient charts from 14 GI clinics during the first year of infliximab treatment. Further, non-anti-tumor necrosis factor medication data were intermittently collected in some charts and, therefore, did not allow for analysis. CONCLUSIONS: Weight-based dosing and, presumably, patient response enabled providers to find the effective infliximab dose for IBD patients. The maintenance dose and administration frequency remained stable during the initial year.
Assuntos
Anti-Inflamatórios/administração & dosagem , Anticorpos Monoclonais/administração & dosagem , Doenças Inflamatórias Intestinais/tratamento farmacológico , Adulto , Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Humanos , Infliximab , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Estados UnidosRESUMO
BACKGROUND & AIMS: Endoscopist-directed propofol sedation (EDP) remains controversial. We sought to update the safety experience of EDP and estimate the cost of using anesthesia specialists for endoscopic sedation. METHODS: We reviewed all published work using EDP. We contacted all endoscopists performing EDP for endoscopy that we were aware of to obtain their safety experience. These complications were available in all patients: endotracheal intubations, permanent neurologic injuries, and death. RESULTS: A total of 646,080 (223,656 published and 422,424 unpublished) EDP cases were identified. Endotracheal intubations, permanent neurologic injuries, and deaths were 11, 0, and 4, respectively. Deaths occurred in 2 patients with pancreatic cancer, a severely handicapped patient with mental retardation, and a patient with severe cardiomyopathy. The overall number of cases requiring mask ventilation was 489 (0.1%) of 569,220 cases with data available. For sites specifying mask ventilation risk by procedure type, 185 (0.1%) of 185,245 patients and 20 (0.01%) of 142,863 patients required mask ventilation during their esophagogastroduodenoscopy or colonoscopy, respectively (P < .001). The estimated cost per life-year saved to substitute anesthesia specialists in these cases, assuming they would have prevented all deaths, was $5.3 million. CONCLUSIONS: EDP thus far has a lower mortality rate than that in published data on endoscopist-delivered benzodiazepines and opioids and a comparable rate to that in published data on general anesthesia by anesthesiologists. In the cases described here, use of anesthesia specialists to deliver propofol would have had high costs relative to any potential benefit.
Assuntos
Anestesia , Anestésicos Intravenosos/efeitos adversos , Endoscopia , Propofol/administração & dosagem , Anestesia/efeitos adversos , Anestesia/economia , Anestésicos Intravenosos/administração & dosagem , Anestésicos Intravenosos/economia , Competência Clínica , Qualidade de Produtos para o Consumidor , Análise Custo-Benefício , Endoscopia/economia , Saúde Global , Custos de Cuidados de Saúde , Humanos , Intubação Intratraqueal , Máscaras , Guias de Prática Clínica como Assunto , Propofol/efeitos adversos , Propofol/economia , Respiração Artificial/instrumentação , Medição de RiscoAssuntos
Endoscopia Gastrointestinal/métodos , Varizes Esofágicas e Gástricas/terapia , Hemorragia Gastrointestinal/terapia , Hemostase Endoscópica/métodos , Escleroterapia/métodos , Varizes Esofágicas e Gástricas/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Humanos , Ligadura/métodos , Resultado do TratamentoRESUMO
BACKGROUND: Pancreatitis is the most common major complication of ERCP. Efforts have been made to identify pharmacologic agents capable of reducing its incidence and severity. The aim of this trial was to determine whether prophylactic allopurinol, an inhibitor of oxygen-derived free radical production, would reduce the frequency and severity of post-ERCP pancreatitis. Methods A total of 701 patients were randomized to receive either allopurinol or placebo 4 hours and 1 hour before ERCP. A database was prospectively collected by a defined protocol on patients who underwent ERCP. Standardized criteria were used to diagnose and grade the severity of postprocedure pancreatitis. RESULTS: The groups were similar with regard to patient demographics and to patient and procedure risk factors for pancreatitis. The overall incidence of pancreatitis was 12.55%. It occurred in 46 of 355 patients in the allopurinol group (12.96%) and in 42 of 346 patients in the control group (12.14%; p = 0.52). The pancreatitis was graded mild in 7.89%, moderate in 4.51%, and severe in 0.56% of the allopurinol group, and mild in 6.94%, moderate in 4.62%, and severe in 0.58% of the control group. There was no significant difference between the groups in the frequency or the severity of pancreatitis. CONCLUSIONS: Prophylactic oral allopurinol did not reduce the frequency or the severity of post-ERCP pancreatitis.
Assuntos
Alopurinol/administração & dosagem , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Sequestradores de Radicais Livres/administração & dosagem , Pancreatite/prevenção & controle , Administração Oral , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pancreatite/etiologia , Estudos Prospectivos , Fatores de RiscoRESUMO
BACKGROUND: This multicenter prospective study investigated the longer-term (12 month) safety and efficacy of radiofrequency energy delivery for the treatment of GERD. METHODS: A prospective study was conducted of 118 patients with chronic heartburn and/or regurgitation who required antisecretory medication daily and had demonstrated pathologic esophageal acid exposure, a sliding hiatal hernia (Assuntos
Esofagite Péptica/terapia
, Esofagoscopia
, Refluxo Gastroesofágico/terapia
, Hipertermia Induzida/instrumentação
, Adulto
, Idoso
, Esofagite Péptica/diagnóstico
, Feminino
, Seguimentos
, Determinação da Acidez Gástrica
, Refluxo Gastroesofágico/diagnóstico
, Humanos
, Masculino
, Pessoa de Meia-Idade
, Estudos Prospectivos
, Qualidade de Vida
, Resultado do Tratamento