Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.410
Filtrar
1.
Br J Nurs ; 29(1): 62-63, 2020 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-31917944

RESUMEN

Emeritus Professor Alan Glasper, from the University of Southampton, discusses processes for ensuring that all patients have an up-to-date personalised care plan that details all their care needs during admission to hospital.


Asunto(s)
Planificación de Atención al Paciente/organización & administración , Medicina de Precisión/métodos , Medicina de Precisión/enfermería , Humanos , Medicina Estatal , Reino Unido
2.
Expert Opin Investig Drugs ; 29(1): 49-61, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31778609

RESUMEN

Introduction: Pharmacotherapy for the acute respiratory distress syndrome (ARDS) has been tested in preclinical and clinical studies. However, to date, no pharmacological interventions have proven effective. This may be attributed to lack of proper identification of different ARDS phenotypes.Areas covered: We designed inclusive search strings and searched four bibliographic databases (Cochrane Database of Systematic Reviews, PubMed, Web of Science, and clinicaltrials.gov) to identify relevant research. Search results were mainly restricted to papers published from 2009 through 2019. ARDS is a heterogeneous syndrome, and its different phenotypes - defined according to clinical, radiological, and biological parameters - may affect response to therapy. The most promising pharmacological approaches to date have been based on ARDS pathophysiology. They focus on reducing inflammation and pulmonary edema, promoting selective vasodilation, and repairing alveolar epithelial and endothelial cells.Expert opinion: Pharmacotherapeutic approaches targeting ARDS pathophysiology have failed to exert beneficial effects. Personalized medicine targeting the different ARDS phenotypes has emerged as an option to improve survival. Identification of specific ARDS patient phenotypes that respond to specific therapies seems to be the most important challenge for the next decade. Additional research is warranted before personalized medicine approaches can be applied at bedside for ARDS patients.


Asunto(s)
Medicina de Precisión/métodos , Síndrome de Dificultad Respiratoria del Adulto/tratamiento farmacológico , Animales , Humanos , Inflamación/tratamiento farmacológico , Inflamación/fisiopatología , Fenotipo , Edema Pulmonar/tratamiento farmacológico , Edema Pulmonar/fisiopatología , Síndrome de Dificultad Respiratoria del Adulto/fisiopatología , Vasodilatación/efectos de los fármacos
3.
J Cancer Res Clin Oncol ; 146(1): 205-219, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31620896

RESUMEN

BACKGROUND: Third line innovative systemic treatments and loco-regional chemotherapy by hypoxic pelvic perfusion (HPP) have both been proposed for the treatment of unresectable not responsive recurrent rectal cancer (URRC). In the present study, we have compared the safety and efficacy of HPP/target therapy, using drug regimens selected by liquid biopsy precision oncotherapy, to third-line systemic therapy based on tissue specimens precision oncotherapy. METHODS: HPP/target therapy regimens were selected based on precision oncotherapy, including assays for chemosensitivity and viability, and qRT-PCR for tumor-related gene expression. In the control group, systemic third-line and further lines of therapy were defined according to clinical and biological parameters. RESULTS: From 2007 to 2019, 62 URRC patients were enrolled, comprised of 43 patients in the HPP/target-therapy group and 19 patients in the systemic therapy control group. No HPP related complications were reported and the most common adverse events were skin and bone marrow toxicity. In the HPP/target-therapy group, the ORR was 41.8% whereas in the systemic therapy control group was 15.8%. DCR of the HPP/target-therapy group was significantly improved over the systemic therapy group (P = 0.001), associated with a PFS of 8 vs 4 months (P = 0.009), and OS of 20 vs 8 months (P = 0.046). CONCLUSIONS: The present data indicate that in URCC patients, the integration of HPP/target-therapy and precision oncotherapy based upon liquid biopsy is as effective and efficacious as third-line treatment in local disease control and, therefore, deserves to be further assessed and compared to conventional systemic treatments in future prospective randomized trials.


Asunto(s)
Biopsia Líquida/métodos , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/terapia , Neoplasias del Recto/patología , Neoplasias del Recto/terapia , Anciano , Quimioradioterapia Adyuvante , Estudios de Cohortes , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Terapia Neoadyuvante , Medicina de Precisión/métodos , Estudios Retrospectivos
4.
Adv Exp Med Biol ; 1188: 239-249, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31820392

RESUMEN

Despite the early successes of targeted therapies and continuous improvements in next-generation sequencing technology over the last two decades, genomics-driven precision oncology has helped only a minority of cancer patients; thus treatment regimens are still not matched to the vast majority of cancer patients. It has become apparent that genomic profiling in itself is limited with respect to optimal selection of patients for targeted therapy. Proteomics-based approaches (in contrast to genomics-based and transcriptomics-based approaches) capture biological processes (e.g., diversity of protein expression patterns and post-translational modifications) directly contributing to cancer pathogenesis. This encourages incorporation of concordant proteomic analyses into the next stage of precision oncology. Reverse-phase protein array (RPPA) is well suited to pharmacodynamic analysis due to its ability to precisely map signaling status using limited amounts of clinical sample. In addition, the cost-effectiveness and rapid turnaround time of the RPPA platform offer a substantial advantage over existing molecular profiling technologies in a clinical setting. In this chapter, we begin by reviewing the current status of genomics-driven precision oncology, along with its limitations and challenges. Finally, we discuss the utility of RPPA technology as a means of improving precision oncology.


Asunto(s)
Neoplasias , Análisis por Matrices de Proteínas , Genómica , Humanos , Oncología Médica/métodos , Medicina de Precisión/métodos , Análisis por Matrices de Proteínas/normas , Proteómica
5.
Medicine (Baltimore) ; 98(52): e18498, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31876737

RESUMEN

Lymphatic infiltration (LI) is a key factor affecting the treatment of patients with colorectal cancer (CRC). Thus, the aim of this study was to develop and validate a nomogram for individual preoperative prediction of LI in patients with CRC.We conducted a retrospective analysis of 664 patients who received their initial diagnosis of CRC at our center. Those patients were allocated to a training dataset (n = 468) and a validation dataset (n = 196). The least absolute shrinkage and selection operator regression model was used for data dimension reduction and feature selection. The nomogram was constructed from the training dataset and internally verified using the concordance index (C-index), calibration, area under the receiver operating characteristic curve and decision curve analysis (DCA).The enhancement computed tomography reported N1/N2 classification, preoperative tumor differentiation, elevated carcinoembryonic antigen, and carbohydrate antigen19-9 level were selected as variables for the prediction nomogram. Encouragingly, the nomogram showed favorable calibration with C-index 0.757 in the training cohort and 0.725 in validation cohort. The DCA signified that the nomogram was clinically useful. The Kaplan-Meier survival curve showed that patients with LI had a worse prognosis and could benefit from postoperative adjuvant chemotherapy.Use common clinicopathologic factors, a non-invasive scale for individualized preoperative forecasting of LI was established conveniently. LI prediction has great significance for risk stratification of prognosis and treatment of resectable CRC.


Asunto(s)
Toma de Decisiones Clínicas/métodos , Neoplasias Colorrectales/patología , Nomogramas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/cirugía , Femenino , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Medicina de Precisión/métodos , Periodo Preoperatorio , Estudios Retrospectivos , Adulto Joven
6.
Cancer Treat Rev ; 81: 101927, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31783313

RESUMEN

Prostate cancer (PCa) remains the most common cancer in men. The proportion of all PCa attributable to high-risk hereditary factors has been estimated to 5-15%. Recent landmark discoveries in PCa genetics led to the identification of germline mutations/alterations (eg. BRCA1, BRCA2, ATM or HOXB13), single nucleotide polymorphisms or copy number variations associated with PCa incidence and progression. However, offering germline testing to men with an assumed hereditary component is currently controversial. In the present review article, we provide an overview about the epidemiology and the genetic basis of PCa predisposition and critically discuss the significance and consequence in the clinical routine. In addition, we give an overview about genetic tests and report latest findings from ongoing clinical studies. Lastly, we discuss the impact of genetic testing in personalized therapy in advanced stages of the disease.


Asunto(s)
Pruebas Genéticas , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Quinasa de Punto de Control 2/genética , Ensayos Clínicos como Asunto , Variaciones en el Número de Copia de ADN , Predisposición Genética a la Enfermedad , Proteínas de Homeodominio/genética , Humanos , Masculino , Mutación , Polimorfismo de Nucleótido Simple , Medicina de Precisión/métodos , Neoplasias de la Próstata/patología
7.
Adv Exp Med Biol ; 1192: 199-224, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31705496

RESUMEN

Personalized medicine aims to integrate a number of characteristics such as genetic and epigenetic variations, other biomarkers, clinical symptoms, and environmental factors in order to predict susceptibility to disease, aid in diagnosis, and identify efficacious treatments with maximum likelihood of favorable response and minimal chance of adverse effects. The use of personalized medicine approaches in psychiatry is underdeveloped, but has a profound potential for improving prevention and treatment. There are a number of studies that have found promising associations between a variety of biomarkers and clinical response to psychopharmacological treatment in various psychiatric disorders. These biomarkers include neuroimaging, electrophysiology, peripheral serum, and plasma biomarkers, and variations in genomics, epigenetics, proteomics, and metabolomics. Ultimately, the best model for precision medicine in complex, multifactorial diseases such as psychiatric illnesses will likely involve integrated methodology that combines information from multiple sources including biologic, clinical, and environmental data. While much progress has been made in the development of valid biomarkers in psychiatric disorders, there is much work to be done in determining their clinical utility.


Asunto(s)
Epigenómica , Trastornos Mentales , Farmacogenética , Medicina de Precisión/métodos , Biomarcadores , Humanos , Neuroimagen , Proteómica
8.
Transplant Proc ; 51(9): 2917-2920, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31711577

RESUMEN

The posology of tacrolimus (TAC) is usually guided by its therapeutic drug monitoring. Some patients reach target concentrations (CTs) quickly, others more slowly. In a retrospective study, 20 kidney transplant recipients were included (mean age, 50.7 ± 14.1 years; weight 64.0 ± 14.2 kg; patients clinically stable for over a year). We studied cytochrome CYP3A5 genotype, in particular CYP3A5 6986A>G, the most important polymorphism related to the metabolism of TAC (wild genotype CYP3A5 *1 genotype, and CYP3A5 *3 variants). One year after transplantation, the CTs were 5.0 to 8.0 ng/mL. The patients were divided into group A (TAC doses < 6.0 mg/d) and group B (TAC doses > 6.0 mg/d). All were tested for the CYP3A5 gene sequence to characterize their polymorphism. Patients with CYP3A5 *1/*1 and *1/*3 were extensive metabolizers, and those with CYP3A5 *3/*3 were poor metabolizers. In group A and group B, the average TAC doses at the time of therapeutic drug monitoring were 3.0 ± 1.4 ng/mL (0.05 ± 0.03 mg/kg) and 12.8 ± 3.7 ng/mL (0.2 ± 0.1 mg/kg), respectively (P < .001). Group A was the poor metabolizers genotype, while in group B, the extensive metabolizers genotype was present. Patients with the CYP3A5 *1/*1 or *1/*3 genotype required 1.5 to 2 times higher doses than patients *3/*3 to reach CT. This genetic test allows clinicians to know, before the kidney transplant, the patient's TAC metabolism pattern and then to optimize the drug exposure.


Asunto(s)
Citocromo P-450 CYP3A/genética , Inmunosupresores/metabolismo , Inmunosupresores/uso terapéutico , Trasplante de Riñón , Tacrolimus/metabolismo , Tacrolimus/uso terapéutico , Adulto , Anciano , Monitoreo de Drogas , Femenino , Genotipo , Rechazo de Injerto/prevención & control , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Medicina de Precisión/métodos , Estudios Retrospectivos
9.
Adv Exp Med Biol ; 1168: 9-30, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31713162

RESUMEN

Following the completion of the Human Genome Project in 2003, research in oncology has progressively focused on the sequencing of cancer genomes, with the aim of better understanding the genetic basis of oncogenesis and identifying actionable alterations. The development of next-generation-sequencing (NGS) techniques, commercially available since 2006, allowed for a cost- and time-effective sequencing of tumor DNA, leading to a "genomic era" of cancer research and treatment. NGS provided a significant step forward in Personalized Medicine (PM) by enabling the detection of somatic driver mutations, resistance mechanisms, quantification of mutational burden, germline mutations which settled the foundation of a new approach in cancer care. In this chapter we discuss the history, available techniques and applications of NGS in oncology, with a particular referral to the PM approach and the emerging role of the research field of pharmacogenomics.


Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Neoplasias , Farmacogenética , Medicina de Precisión , Humanos , Neoplasias/genética , Neoplasias/terapia , Farmacogenética/métodos , Farmacogenética/tendencias , Medicina de Precisión/métodos , Medicina de Precisión/tendencias
10.
Medicine (Baltimore) ; 98(48): e18150, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31770256

RESUMEN

The current research aimed to investigate the correlation between the effect of Wuzhi soft capsule (WZC) on FK506 concentration and CYP3A5 gene polymorphism in patients with membranous nephropathy (MN).Seventy-five patients with idiopathic MN were enrolled and divided according to the expression of CYP3A5 gene metabolic enzyme into group A (CP3A5 metabolic enzyme function expression types CYP3A5*1/*1 type and CYP3A5*1/*3 type), and group B (non-expression type CYP3A5*3/*3 type). All patients were given oral administration of tacrolimus capsule at the initial dose of 1 mg for twice a day 1 hour before breakfast and dinner. Afterwards, the oral administration of WZC was added at the dose of 0.5 g for 3 times a day within half an hour after 3 meals.The blood concentrations of FK506 in groups A and B were significantly higher than those before administration. Compared with that before administration, the FK506 blood concentration was increased by 3.051 ±â€Š0.774 ng/ml after adding the WZC. Besides, the blood concentrations of FK506 in group A were lower than those in group B before and after administration; meanwhile, the 24 hours total urine protein and the biochemical indexes in both groups displayed no statistically significant difference. Only 1 case of diarrhea was observed, which was relieved after the reduction of tacrolimus.Wuzhi soft capsule can significantly increase the blood concentration of FK506 in MN patients. Moreover, the CYP3A5 genotyping should be considered when WZC is used to increase the blood concentration of FK506.


Asunto(s)
Citocromo P-450 CYP3A/genética , Medicamentos Herbarios Chinos , Glomerulonefritis Membranosa , Tacrolimus , Adulto , Inhibidores de la Calcineurina/administración & dosificación , Inhibidores de la Calcineurina/farmacocinética , Cápsulas , Sinergismo Farmacológico , Medicamentos Herbarios Chinos/administración & dosificación , Medicamentos Herbarios Chinos/farmacocinética , Femenino , Glomerulonefritis Membranosa/tratamiento farmacológico , Glomerulonefritis Membranosa/genética , Glomerulonefritis Membranosa/inmunología , Humanos , Masculino , Persona de Mediana Edad , Pruebas de Farmacogenómica , Polimorfismo Genético , Medicina de Precisión/métodos , Tacrolimus/administración & dosificación , Tacrolimus/farmacocinética
11.
BMC Bioinformatics ; 20(1): 496, 2019 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-31615419

RESUMEN

BACKGROUND: When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient's phenotypes. Typically, this is done through annotation, filtering, and then prioritization of variants for manual curation. However, prioritization of variants in rare disease patients remains a challenging task due to the high degree of variability in phenotype presentation and molecular source of disease. Thus, methods that can identify and/or prioritize variants to be clinically reported in the presence of such variability are of critical importance. METHODS: We tested the application of classification algorithms that ingest variant annotations along with phenotype information for predicting whether a variant will ultimately be clinically reported and returned to a patient. To test the classifiers, we performed a retrospective study on variants that were clinically reported to 237 patients in the Undiagnosed Diseases Network. RESULTS: We treated the classifiers as variant prioritization systems and compared them to four variant prioritization algorithms and two single-measure controls. We showed that the trained classifiers outperformed all other tested methods with the best classifiers ranking 72% of all reported variants and 94% of reported pathogenic variants in the top 20. CONCLUSIONS: We demonstrated how freely available binary classification algorithms can be used to prioritize variants even in the presence of real-world variability. Furthermore, these classifiers outperformed all other tested methods, suggesting that they may be well suited for working with real rare disease patient datasets.


Asunto(s)
Algoritmos , Enfermedades Genéticas Congénitas/diagnóstico , Genómica/métodos , Mutación , Enfermedades Raras/diagnóstico , Enfermedades Genéticas Congénitas/genética , Predisposición Genética a la Enfermedad , Genoma Humano , Humanos , Fenotipo , Polimorfismo Genético , Medicina de Precisión/métodos , Enfermedades Raras/genética , Estudios Retrospectivos , Análisis de Secuencia de ADN/métodos , Programas Informáticos
12.
Expert Rev Clin Pharmacol ; 12(11): 1033-1036, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31633383

RESUMEN

Introduction: In the era of 'precision' oncology, novel clinical trial designs have emerged, in order to better address the final goal of translating the above-mentioned preclinical discoveries into the clinic. Nonetheless, in aiming to achieve the greatest clinical benefit to patients, some limitations of these novel approaches from the statistical, methodological and practical point of view need to be overcome.Areas covered: In the present review, a short overview of basket trials, umbrella trials and platform trials are discussed, in particular advantages and disadvantages of such experimental approaches.Expert opinion: Master protocols represent the future of clinical oncology research. The possibility of investigating multiple biomarkers and therapeutic regimens under one study is a strong advantage over traditional trials, and it can lead to quick implementation of new, promising treatments or biomarkers into the clinic.


Asunto(s)
Ensayos Clínicos como Asunto/métodos , Neoplasias/terapia , Proyectos de Investigación , Investigación Biomédica/métodos , Humanos , Medicina de Precisión/métodos , Investigación en Medicina Traslacional/métodos
13.
Cancer Radiother ; 23(8): 913-916, 2019 Dec.
Artículo en Francés | MEDLINE | ID: mdl-31645301

RESUMEN

Artificial intelligence is a highly polysemic term. In computer science, with the objective of being able to solve totally new problems in new contexts, artificial intelligence includes connectionism (neural networks) for learning and logics for reasoning. Artificial intelligence algorithms mimic tasks normally requiring human intelligence, like deduction, induction, and abduction. All apply to radiation oncology. Combined with radiomics, neural networks have obtained good results in image classification, natural language processing, phenotyping based on electronic health records, and adaptive radiation therapy. General adversial networks have been tested to generate synthetic data. Logics based systems have been developed for providing formal domain ontologies, supporting clinical decision and checking consistency of the systems. Artificial intelligence must integrate both deep learning and logic approaches to perform complex tasks and go beyond the so-called narrow artificial intelligence that is tailored to perform some highly specialized task. Combined together with mechanistic models, artificial intelligence has the potential to provide new tools such as digital twins for precision oncology.


Asunto(s)
Algoritmos , Inteligencia Artificial , Medicina de Precisión/métodos , Oncología por Radiación/métodos , Aprendizaje Profundo , Humanos , Procesamiento de Imagen Asistida por Computador
14.
World Neurosurg ; 131: 328-338, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31658576

RESUMEN

Glioblastomas are the most common malignant brain tumor and despite extensive research have a dismal prognosis. This review focuses on the current treatment paradigms of glioblastoma and highlights current advances in surgical approaches, imaging techniques, molecular diagnostics, and translational efforts. Several promising clinical trials in immunotherapy and personalized medicine are discussed and the importance of quality of life in the patients and their caregivers both during active treatment and survivorship is also commented on.


Asunto(s)
Neoplasias Encefálicas/terapia , Glioblastoma/terapia , Antineoplásicos/uso terapéutico , Neoplasias Encefálicas/diagnóstico , Ensayos Clínicos como Asunto , Fraccionamiento de la Dosis de Radiación , Femenino , Predicción , Glioblastoma/diagnóstico , Humanos , Inmunoterapia/métodos , Inmunoterapia/tendencias , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/tendencias , Masculino , Terapia Molecular Dirigida/tendencias , Procedimientos Neuroquirúrgicos/métodos , Procedimientos Neuroquirúrgicos/tendencias , Tomografía de Emisión de Positrones/métodos , Tomografía de Emisión de Positrones/tendencias , Medicina de Precisión/métodos , Medicina de Precisión/tendencias , Calidad de Vida , Factores de Riesgo
15.
Semin Oncol ; 46(4-5): 314-320, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31629530

RESUMEN

The Department of Veterans Affairs (VA) has a strong track record providing high-quality, evidence-based care to cancer patients. In order to accelerate discoveries that will further improve care for Veterans with cancer, the VA has partnered with the Center for Translational Data Science at the University of Chicago and the Open Commons Consortium to establish a data sharing platform, the Veterans Precision Oncology Data Commons (VPODC). The VPODC makes clinical, genomic, and imaging data from the VA available to the research community at large. In this paper, we detail our motivation for data sharing, describe the VPODC, and outline our collaboration model. By transforming VA data into a national resource for research in precision oncology, the VPODC seeks to foster innovation through collaboration and resource sharing that will ultimately lead to improved care for Veterans with cancer.


Asunto(s)
Bases de Datos Factuales , Oncología Médica , Medicina de Precisión , Salud de los Veteranos , Seguridad Computacional , Humanos , Oncología Médica/normas , Medicina de Precisión/métodos , Medicina de Precisión/normas , Salud de los Veteranos/normas
17.
Expert Rev Pharmacoecon Outcomes Res ; 19(6): 645-661, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31623476

RESUMEN

Introduction: Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma and is a clinically heterogeneous disease. Treatment pathways for DLBCL are diverse and integrate established and novel therapies.Areas covered: We review the cost burden of DLBCL and the cost-effectiveness of DLBCL management including precision and cellular medicine. We utilized Medical Subject Heading (MeSH) terms and keywords to search the National Library of Medicine online MEDLINE database (PubMed) for articles related to cost, cost burden, and cost-of-illness of DLBCL and cost-effectiveness of DLBCL management strategies published in English as of June 2019.Expert commentary: Available and developing DLBCL therapies offer improved outcomes and often curative treatment at considerable financial expense, and the total cost burden for DLBCL management is substantial for patients and the healthcare system. In the era of personalized medicine, CAR T cells and targeted therapies provide exciting avenues for current and future DLBCL care and can further increase treatment cost. Determinations of cost and cost-effectiveness in DLBCL treatment pathways should continue to guide care providers and systems in identifying cost reduction strategies to provide appropriate therapies to the greatest number of patients in treating DLBCL.


Asunto(s)
Costo de Enfermedad , Linfoma de Células B Grandes Difuso/terapia , Medicina de Precisión/métodos , Análisis Costo-Beneficio , Humanos , Inmunoterapia Adoptiva/economía , Inmunoterapia Adoptiva/métodos , Linfoma de Células B Grandes Difuso/economía , Terapia Molecular Dirigida/economía , Terapia Molecular Dirigida/métodos , Medicina de Precisión/economía
18.
Med Clin North Am ; 103(6): 1005-1019, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31582001

RESUMEN

Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.


Asunto(s)
Aorta Torácica/anomalías , Enfermedades de la Aorta , Pruebas Genéticas/métodos , Manejo de Atención al Paciente/métodos , Enfermedades de la Aorta/genética , Enfermedades de la Aorta/terapia , Humanos , Medicina de Precisión/métodos
19.
Med Clin North Am ; 103(6): 1077-1092, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31582005

RESUMEN

Compared to clinicians previously surveyed, primary care providers employed in a health system known for clinical genomics were more likely to have ordered or referred a patient for genetic testing, but had only modestly more genetics training and reported similarly low levels of comfort answering patient questions about genetic risk. Most supported population genomic screening, reported willingness to get screened themselves, and judged a hypothetical patient's decision to be screened favorably relative to a similar patient's decision to decline screening. Stakeholder perceptions of the ethical appropriateness of nudging at-risk patients to discuss testing with counselors were mixed.


Asunto(s)
Asesoramiento Genético , Pruebas Genéticas/métodos , Atención Primaria de Salud , Asesoramiento Genético/ética , Asesoramiento Genético/métodos , Asesoramiento Genético/psicología , Humanos , Medicina de Precisión/métodos , Atención Primaria de Salud/métodos , Atención Primaria de Salud/tendencias , Secuenciación del Exoma Completo
20.
BMC Med ; 17(1): 188, 2019 10 21.
Artículo en Inglés | MEDLINE | ID: mdl-31639007

RESUMEN

BACKGROUND: There is growing interest in evaluating differences in healthcare interventions across routinely collected demographic characteristics. However, individual subgroup analyses in randomized controlled trials are often not prespecified, adjusted for multiple testing, or conducted using the appropriate statistical test for interaction, and therefore frequently lack credibility. Meta-analyses can be used to examine the validity of potential subgroup differences by collating evidence across trials. Here, we characterize the conduct and clinical translation of age-treatment subgroup analyses in Cochrane reviews. METHODS: For a random sample of 928 Cochrane intervention reviews of randomized trials, we determined how often subgroup analyses of age are reported, how often these analyses have a P < 0.05 from formal interaction testing, how frequently subgroup differences first observed in an individual trial are later corroborated by other trials in the same meta-analysis, and how often statistically significant results are included in commonly used clinical management resources (BMJ Best Practice, UpToDate, Cochrane Clinical Answers, Google Scholar, and Google search). RESULTS: Among 928 Cochrane intervention reviews, 189 (20.4%) included plans to conduct age-treatment subgroup analyses. The vast majority (162 of 189, 85.7%) of the planned analyses were not conducted, commonly because of insufficient trial data. There were 22 reviews that conducted their planned age-treatment subgroup analyses, and another 3 reviews appeared to perform unplanned age-treatment subgroup analyses. These 25 (25 of 928, 2.7%) reviews conducted a total of 97 age-treatment subgroup analyses, of which 65 analyses (in 20 reviews) had non-overlapping subgroup levels. Among the 65 age-treatment subgroup analyses, 14 (21.5%) did not report any formal interaction testing. Seven (10.8%) reported P < 0.05 from formal age-treatment interaction testing; however, none of these seven analyses were in reviews that discussed the potential biological rationale or clinical significance of the subgroup findings or had results that were included in common clinical practice resources. CONCLUSION: Age-treatment subgroup analyses in Cochrane intervention reviews were frequently planned but rarely conducted, and implications of detected interactions were not discussed in the reviews or mentioned in common clinical resources. When subgroup analyses are performed, authors should report the findings, compare the results to previous studies, and outline any potential impact on clinical care.


Asunto(s)
Interpretación Estadística de Datos , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos , Proyectos de Investigación , Literatura de Revisión como Asunto , Distribución por Edad , Factores de Edad , Diseño de Investigaciones Epidemiológicas , Estudios Epidemiológicos , Femenino , Humanos , Medicina de Precisión/métodos , Medicina de Precisión/estadística & datos numéricos , Proyectos de Investigación/normas , Proyectos de Investigación/estadística & datos numéricos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA