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Genetic tests for medication use

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https://www.readbyqxmd.com/read/29453418/periodic-reanalysis-of-whole-genome-sequencing-data-enhances-the-diagnostic-advantage-over-standard-clinical-genetic-testing
#1
Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S Reuter, Meaghan Snell, Sarah Bowdin, Ronald D Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek-Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M Stephen Meyn, Dimitri J Stavropoulos, Stephen W Scherer, Roberto Mendoza-Londono, Christian R Marshall
Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical use. We previously showed that WGS could feasibly be deployed as a single molecular test capable of a higher diagnostic rate than current practices, in a prospectively recruited cohort of 100 children meeting criteria for chromosomal microarray analysis. In this study, we report on the added diagnostic yield with re-annotation and reanalysis of these WGS data ~2 years later...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29443789/polymorphisms-of-drug-metabolizing-enzyme-cyp2e1-in-chinese-uygur-population
#2
Linhao Zhu, Yongjun He, Fanglin Niu, Mengdan Yan, Jing Li, Dongya Yuan, Tianbo Jin
Pharmacogenetics is the genetic basis of pharmacokinetics, genetic testing, and clinical management in diseases. Evaluation about genetic alterations of drug metabolizing enzymes in human genome contributes toward understanding the interindividual and interethnic variability for clinical response to potential toxicants. CYP2E1 gene encodes a drug-metabolizing enzyme that metabolizes mostly small, polar molecules, including toxic laboratory chemicals. The aim of this study was to investigate CYP2E1 polymorphisms and gene profile in a Chinese Uygur population...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29442399/clinicopathologic-characteristics-of-double-primary-endometrial-and-colorectal-cancers-in-a-single-institution
#3
Hyun J Lee, Min C Choi, Ja-Hyun Jang, Sang G Jung, Hyun Park, Won D Joo, Tae H Kim, Chan Lee, Je H Lee
AIM: To investigate the clinicopathologic and genetic correlations between double primary endometrial and colorectal cancer related to Lynch syndrome and to analyze germline mutations in mismatch repair genes in endometrial cancer patients in Korea. METHODS: Thirteen patients diagnosed with pathologically endometrial and colorectal cancer between January 2005 and November 2016 in a single institution were enrolled in the study. The medical records were retrospectively analyzed...
February 14, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29439875/consensus-document-on-the-implementation-of-next-generation-sequencing-in-the-genetic-diagnosis-of-hereditary-cancer
#4
José Luis Soto, Ignacio Blanco, Orland Díez, Javier García Planells, Isabel Lorda, Gert Matthijs, Mercedes Robledo, Erika Souche, Conxi Lázaro
Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs. Consequently, the implementation of this new technology is a great opportunity for improvement in the clinical management of affected families...
February 10, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29423467/an-automated-microfluidic-dna-microarray-platform-for-genetic-variant-detection-in-inherited-arrhythmic-diseases
#5
Shu-Hong Huang, Yu-Shin Chang, Jyh-Ming Jimmy Juang, Kai-Wei Chang, Mong-Hsun Tsai, Tzu-Pin Lu, Liang-Chuan Lai, Eric Y Chuang, Nien-Tsu Huang
In this study, we developed an automated microfluidic DNA microarray (AMDM) platform for point mutation detection of genetic variants in inherited arrhythmic diseases. The platform allows for automated and programmable reagent sequencing under precise conditions of hybridization flow and temperature control. It is composed of a commercial microfluidic control system, a microfluidic microarray device, and a temperature control unit. The automated and rapid hybridization process can be performed in the AMDM platform using Cy3 labeled oligonucleotide exons of SCN5A genetic DNA, which produces proteins associated with sodium channels abundant in the heart (cardiac) muscle cells...
February 9, 2018: Analyst
https://www.readbyqxmd.com/read/29417302/balancing-animal-welfare-and-assisted-reproduction-ethics-of-preclinical-animal-research-for-testing-new-reproductive-technologies
#6
Verna Jans, Wybo Dondorp, Ellen Goossens, Heidi Mertes, Guido Pennings, Guido de Wert
In the field of medically assisted reproduction (MAR), there is a growing emphasis on the importance of introducing new assisted reproductive technologies (ARTs) only after thorough preclinical safety research, including the use of animal models. At the same time, there is international support for the three R's (replace, reduce, refine), and the European Union even aims at the full replacement of animals for research. The apparent tension between these two trends underlines the urgency of an explicit justification of the use of animals for the development and preclinical testing of new ARTs...
February 7, 2018: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/29402697/impact-of-brca-mutation-status-on-survival-of-women-with-triple-negative-breast-cancer
#7
Siddhartha Yadav, Rand Ladkany, Dhiraj Yadav, Omar Alhalabi, Sinan Khaddam, Daniel Isaac, Paola Yumpo Cardenas, Dana Zakalik
INTRODUCTION: The effect of germline BRCA mutations on the outcomes of patients with triple-negative breast cancer (TNBC) is not well understood. MATERIALS AND METHODS: The present retrospective study included women with newly diagnosed TNBC from January 1, 2004 to December 30, 2013. The demographic and tumor characteristics, genetic testing results, and outcomes were collected by a review of the patients' medical records. The outcomes were compared between the BRCA+ and BRCA- women...
December 30, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29398597/acetaminophen-paracetamol-use-modifies-the-sulfation-of-sex-hormones
#8
Isaac V Cohen, Elizabeth T Cirulli, Matthew W Mitchell, Thomas J Jonsson, James Yu, Naisha Shah, Tim D Spector, Lining Guo, J Craig Venter, Amalio Telenti
BACKGROUND: Acetaminophen (paracetamol) is one of the most common medications used for management of pain in the world. There is lack of consensus about the mechanism of action, and concern about the possibility of adverse effects on reproductive health. METHODS: We first established the metabolome profile that characterizes use of acetaminophen, and we subsequently trained and tested a model that identified metabolomic differences across samples from 455 individuals with and without acetaminophen use...
February 1, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29395884/-changes-in-clinical-practice-related-to-the-arrival-of-next-generation-sequencing-in-the-genetic-diagnosis-of-developmental-diseases
#9
L Demougeot, F Houdayer, A Pélissier, F Mohrez, J Thevenon, Y Duffourd, S Nambot, E Gautier, C Binquet, M Rossi, D Sanlaville, S Béjean, C Peyron, C Thauvin-Robinet, L Faivre
INTRODUCTION: The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. METHODS: Geneticists attending a clinical genetics seminar were invited to complete a questionnaire...
January 27, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29392230/pharmacoeconomics-of-genotyping-based-treatment-decisions-in-patients-with-chronic-pain
#10
Robert Morlock, Glenn D Braunstein
Introduction: Genotyping-based treatment decisions may optimize treatment response and minimize adverse drug events (ADEs) in patients with chronic pain. Objectives: To estimate the financial impact of genotyping-based treatment decisions in patients with moderate to severe chronic pain in a managed care setting. Methods: A budget impact model was built with a 1-year time horizon to estimate costs of genotyping-based treatment decisions in a 1000-patient cohort...
September 2017: Pain Reports (Baltimore, Md.)
https://www.readbyqxmd.com/read/29389922/novel-findings-with-reassessment-of-exome-data-implications-for-validation-testing-and-interpretation-of-genomic-data
#11
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang, Chao Wu, Holly Dubbs, Alisha Wilkens, Livija Medne, Emma Bedoukian, Peter S White, Jeffrey Pennington, Minjie Lou, Laura Conlin, Dimitri Monos, Mahdi Sarmady, Eric Marsh, Elaine Zackai, Nancy Spinner, Ian Krantz, Matt Deardorff, Avni Santani
PurposeThe objective of this study was to assess the ability of our laboratory's exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe developed a two-tiered validation strategy: (i) a method-based approach that assessed the ability of our exome test to detect known variants using a reference HapMap sample, and (ii) an interpretation-based approach that assessed our relative ability to identify and interpret disease-causing variants, by analyzing and comparing the results of 19 randomly selected patients previously tested by external laboratories...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29389521/the-central-role-of-wnt-signaling-and-organoid-technology-in-personalizing-anticancer-therapy
#12
Elizabeth Vincan, Renate H M Schwab, Dustin J Flanagan, Jean M Moselen, Bang M Tran, Nick Barker, Toby J Phesse
The Wnt pathway is at the heart of organoid technology, which is set to revolutionize the cancer field. We can now predetermine a patient's response to any given anticancer therapy by exposing tumor organoids established from the patient's own tumor. This cutting-edge biomedical platform translates to patients being treated with the correct drug at the correct dose from the outset, a truly personalized and precise medical approach. A high throughput drug screen on organoids also allows drugs to be tested in limitless combinations...
January 2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29384027/an-evaluation-of-the-cost-effectiveness-of-comprehensive-mtm-integrated-with-point-of-care-phenotypic-and-genetic-testing-for-u-s-elderly-patients-after-percutaneous-coronary-intervention
#13
Arinze Nkemdirim Okere, Kyrian Ezendu, Abdrahmane Berthe, Vakaramoko Diaby
BACKGROUND: Poor health outcomes after percutaneous coronary intervention (PCI) in elderly patients is an area of concern among policymakers and administrators. In an effort to determine the best strategy to improve outcomes among elderly patients who underwent PCI, several studies have evaluated the cost-effectiveness of genotype-guided antiplatelet therapy compared with universal use of any one of the antiplatelet drugs indicated for patients with acute coronary syndrome (ACS) who underwent PCI...
February 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29382701/factors-associated-with-false-positive-results-on-screening-mammography-in-a-population-of-predominantly-hispanic-women
#14
Julia E McGuinness, William Ueng, Meghna S Trivedi, Hae Seung Yi, Raven David, Alejandro Vanegas, Jennifer Vargas, Rossy Sandoval, Rita Kukafka, Katherine D Crew
BACKGROUND: Potential harms of screening mammography include false positive results, such as recall breast imaging or biopsies. METHODS: We recruited women undergoing screening mammography at Columbia University Medical Center in New York, NY. They completed a questionnaire on breast cancer risk factors and permitted access to their medical records. Breast cancer risk status was determined using the Gail model and a family history screener. High-risk was defined as a 5-year invasive breast cancer risk of 1...
January 30, 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29380695/how-to-control-asthma-with-personalized-management-where-do-we-stand-now
#15
Meng Wang, Yuan Yao, Shanqun Jiang, Fang Tao, Rui Tang, Jinlu Sun
Asthma is one of the most significant diseases worldwide and causes overwhelming costs physically and economically. The heterogeneity of asthma has been a hot topic, and an increasing amount of research has been conducted on this issue. The study of asthma has revealed various groups of asthma patients who share phenotypic characteristics that naturally elicit the need for personalized asthma therapy. Clinical evidence has shown that a 'one size fits all' approach does not apply to all asthma patients because of the large variability in treatment responses to asthma medication...
January 28, 2018: Current Drug Metabolism
https://www.readbyqxmd.com/read/29379313/a-prospective-longitudinal-study-to-evaluate-the-clinical-utility-of-a-predictive-algorithm-that-detects-risk-of-opioid-use-disorder
#16
Ashley Brenton, Chee Lee, Katrina Lewis, Maneesh Sharma, Svetlana Kantorovich, Gregory A Smith, Brian Meshkin
Purpose: The purpose of this study was to determine the clinical utility of an algorithm-based decision tool designed to assess risk associated with opioid use. Specifically, we sought to assess how physicians were using the profile in patient care and how its use affected patient outcomes. Patients and methods: A prospective, longitudinal study was conducted to assess the utility of precision medicine testing in 5,397 patients across 100 clinics in the USA. Using a patent-protected, validated algorithm combining specific genetic risk factors with phenotypic traits, patients were categorized into low-, moderate-, and high-risk patients for opioid abuse...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29378663/early-diagnosis-of-tuberous-sclerosis-complex-a-race-against-time-how-to-make-the-diagnosis-before-seizures
#17
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29377644/the-active-malformations-surveillance-program-boston-in-1972-2012-methodology-and-demographic-characteristics
#18
Lewis B Holmes, Hanah Nasri, Marie-Noel Westgate, M Hassan Toufaily, Angela E Lin
BACKGROUND: Malformations surveillance programs have been carried out in consecutive populations of newborn infants at single hospitals, as well as in several hospitals in defined populations. A surveillance program begins with the review of the findings recorded by the examining pediatrician in each infant's medical record. The results of diagnostic tests, consultations, and imaging studies are obtained, also, from that infant's medical record. Some malformations surveillance programs identify additional malformations over several months, as the infants have hospitalizations and additional diagnostic testing...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29377611/developmental-social-communication-deficits-in-the-shank3-rat-model-of-phelan-mcdermid-syndrome-and-autism-spectrum-disorder
#19
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
January 29, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29362845/hypertrophic-cardiomyopathy-genotype-prediction-models-in-a-pediatric-population
#20
Randa Newman, John Lynn Jefferies, Clifford Chin, Hua He, Amy Shikany, Erin M Miller, Ashley Parrott
The Toronto Hypertrophic Cardiomyopathy (HCM) Genotype Score and Mayo HCM Genotype Predictor are risk assessment models developed to estimate a patient's likelihood of testing positive for a pathogenic variant causative of HCM. These models were developed from adult populations with HCM based on factors that have been associated with a positive genotype and have not been validated in external populations. The purpose of this study was to evaluate the overall predictive abilities of these models in a clinical pediatric HCM setting...
January 24, 2018: Pediatric Cardiology
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