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Genetic tests for medication use

Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
James Starrett, Shahan Derkarabetian, Marshal Hedin, Robert W Bryson, John E McCormack, Brant C Faircloth
Arachnida is an ancient, diverse, and ecologically important animal group that contains a number of species of interest for medical, agricultural, and engineering applications. Despite their importance, many aspects of the arachnid tree of life remain unresolved, hindering comparative approaches to arachnid biology. Biologists have made considerable efforts to resolve the arachnid phylogeny; yet, limited and challenging morphological characters, as well as a dearth of genetic resources, have hindered progress...
October 21, 2016: Molecular Ecology Resources
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Narai, John R Heckenlively, Kelly A Frazar, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
Seenae Eum, Adam M Lee, Jeffrey R Bishop
Optimizing antipsychotic pharmacotherapy is often challenging due to significant variability in effectiveness and tolerability. Genetic factors influencing pharmacokinetics and pharmacodynamics may contribute to some of this variability. Research studies have characterized these pharmacogenetic relationships, and some genetic markers are now available as clinical tests. These advances in pharmacogenetics research and test availability have great potential to improve clinical outcomes and quality of life in psychiatric patients...
September 2016: Dialogues in Clinical Neuroscience
Chin B Eap
The use of pharmacogenetic tests was already being proposed in psychiatry in the early 2000s because genetic factors were known to influence drug pharmacokinetics and pharmacodynamics. However, sufficient levels of evidence to justify routine use have been achieved for only a few tests (eg, major histocompatibility complex, class I, B, allele 1502 [HLA-B*1502] for carbamazepine in epilepsy and bipolar disorders); many findings are too preliminary or, when replicated, of low clinical relevance because of a small effect size...
September 2016: Dialogues in Clinical Neuroscience
Susanne Hafner, Sabine Haubensak, Tanusree Paul, Oliver Zolk
Background | Differences (polymorphisms) in genes encoding drug targets, drug transport proteins, or drug metabolizing enzymes may be responsible, among other factors, for the observed variation in patients' responses to medications. The field of pharmacogenetics aims to identify patients at higher genetically-determined risk of adverse effects or poor response to medication. This information would allow for modification of dosage or substitution with alternative therapy. However, there is a lack of awareness of pharmacogenetic clinical practise guidelines...
October 2016: Deutsche Medizinische Wochenschrift
Brian H Shirts, Colin C Pritchard, Tom Walsh
Every single-nucleotide change compatible with life is present in the human population today. Understanding these rare human variants defines an extraordinary challenge for genetics and medicine. The new clinical practice of sequencing many genes for hereditary cancer risk has illustrated the utility of clinical next-generation sequencing in adults, identifying more medically actionable variants than single-gene testing. However, it has also revealed a linear relationship between the length of DNA evaluated and the number of rare 'variants of uncertain significance' reported...
October 11, 2016: Trends in Molecular Medicine
Marina J Corines, Jada G Hamilton, Emily Glogowski, Chris A Anrig, Rachael Goldberg, Kate Niehaus, Erin Salo-Mullen, Megan Harlan, Margaret R Sheehan, Magan Trottier, Asad Ahsraf, Christina Tran, Lauren Jacobs, Rohini Rau-Murthy, Anne G Lincoln, Mark E Robson, Jose G Guillem, Arnold J Markowitz, Kenneth Offit, Zsofia K Stadler
Few reports of educational and counseling support resources exist for Lynch syndrome (LS), a disorder requiring multi-organ cancer screening and specialized medical care throughout adult life. Here we describe the development and efficacy of two resources designed to address this need, the Memorial Sloan Kettering Cancer Center Clinical Genetics Service annual Lynch Syndrome Educational Workshop (LSEW), and a quarterly Lynch Syndrome Patient Advocacy Network (LSPAN) support group. The LSEW and LSPAN were implemented beginning in 2012...
October 12, 2016: Journal of Genetic Counseling
Martin Dawes, Martin N Aloise, J Sidney Ang, Pieter Cullis, Diana Dawes, Robert Fraser, Gideon Liknaitzky, Andrea Paterson, Paul Stanley, Adriana Suarez-Gonzalez, Hagit Katzov-Eckert
BACKGROUND: Inappropriate prescribing increases patient illness and death owing to adverse drug events. The inclusion of genetic information into primary care medication practices is one solution. Our aim was to assess the ability to obtain and genotype saliva samples and to determine the levels of use of a decision support tool that creates medication options adjusted for patient characteristics, drug-drug interactions and pharmacogenetics. METHODS: We conducted a cohort study in 6 primary care settings (5 family practices and 1 pharmacy), enrolling 191 adults with at least 1 of 10 common diseases...
July 2016: CMAJ Open
Romina Barani, Gholamreza Motalleb, Hossein Maghsoudi
BACKGROUND: Esophageal cancer is a public health concern around the world; this cancer is the sixth leading cause of death of cancer in the world with about 386,000 deaths per year. Its risk factors include environmental factors such as tobacco smoke, gastroesophageal reflux and genetic changes. iNOS is stated by the effect of various inflammatory factors and is thus called inducible NOS. Investigating iNOS expression is a powerful tool for understanding effective molecular parameters at tissue and cellular responses to external factors...
September 2016: Gastrointestinal Tumors
Riaz Abdulla, Rouchelle Charmaine Tellis, Roshan Athikari, Jagadish Kudkuli
CONTEXT: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. AIMS: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Noha M Elhosseiny, Ossama M El-Tayeb, Aymen S Yassin, Stephen Lory, Ahmed S Attia
Acinetobacter baumannii infections are compounded with a striking lack of treatment options. In many Gram-negative bacteria, secreted proteins play an important early role in avoiding host defences. Typically, these proteins are targeted to the external environment or into host cells using dedicated transport systems. Despite the fact that medically relevant species of Acinetobacter possess a type II secretion system (T2SS), only recently, its significance as an important pathway for delivering virulence factors has gained attention...
October 1, 2016: International Journal of Medical Microbiology: IJMM
Puneet Narang, Amy Johnson, Manasa Enja, Steven Lippmann
Many psychiatric patients experience pharmaceutical intolerances, and some of them do not derive optimal efficacy from their pharmacotherapies. Clinical problems such as these may result in prolonged dysfunction, adverse consequences, and repeated changes in medication treatment regimens. Pharmacogenomics is a laboratory method that aids individualized medication selection by predicting drug efficacy and adverse effect profiles. It is a technique that involves the testing of patients' genetic makeup to improve medicinal response and tolerance...
October 2016: Southern Medical Journal
Łukasz P Zieliński, Anthony C Smith, Alexander G Smith, Alan J Robinson
Mitochondrial respiratory chain dysfunction causes a variety of life-threatening diseases affecting about 1 in 4300 adults. These diseases are genetically heterogeneous, but have the same outcome; reduced activity of mitochondrial respiratory chain complexes causing decreased ATP production and potentially toxic accumulation of metabolites. Severity and tissue specificity of these effects varies between patients by unknown mechanisms and treatment options are limited. So far most research has focused on the complexes themselves, and the impact on overall cellular metabolism is largely unclear...
September 30, 2016: Mitochondrion
Karim Malki, Maria Grazia Tosto, Héctor Mouriño-Talín, Sabela Rodríguez-Lorenzo, Oliver Pain, Irfan Jumhaboy, Tina Liu, Panos Parpas, Stuart Newman, Artem Malykh, Lucia Carboni, Rudolf Uher, Peter McGuffin, Leonard C Schalkwyk, Kevin Bryson, Mark Herbster
Response to antidepressant (AD) treatment may be a more polygenic trait than previously hypothesized, with many genetic variants interacting in yet unclear ways. In this study we used methods that can automatically learn to detect patterns of statistical regularity from a sparsely distributed signal across hippocampal transcriptome measurements in a large-scale animal pharmacogenomic study to uncover genomic variations associated with AD. The study used four inbred mouse strains of both sexes, two drug treatments, and a control group (escitalopram, nortriptyline, and saline)...
October 1, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Maya Sabatello, S Appelbaum
This paper considers the ethical, legal, and social issues raised by the prospect of increasing use of psychiatric genetic data in child custody litigation. Although genetic tests cannot currently confirm a parent or child's psychiatric diagnosis, it is likely that as relevant findings emerge, they will be introduced in family courts to challenge parental capacity. Here, we draw on three projected, but plausible, scenarios for obtaining psychiatric data about parents -- imposed genetic testing, access to medical records, and genetic theft -- then consider the use of psychiatric genetic data of children, to highlight the issues that judges, child custody evaluators, and clinicians who may provide treatment for parents or children with mental health issues will need to consider...
September 2016: Current Genetic Medicine Reports
Emily C Williams, Jessica P Young, Carol E Achtmeyer, Christian S Hendershot
BACKGROUND: Efforts to identify genetic moderators of pharmacotherapy response have generated interest in clinical applications of pharmacogenetic tests in alcohol use disorder (AUD) treatment. To date, no research on providers' interest in using pharmacogenetic tests in the context of AUD treatment has been reported. We conducted qualitative interviews with primary care providers from 5 clinics in the Veterans Health Administration (VA) to assess their interest in using a hypothetical genetic test to inform treatment of AUD with pharmacotherapy...
November 2016: Journal of Substance Abuse Treatment
Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic paresis (BSP) is a sporadic, progressive neuromuscular disease that is thought to affect all breeds of cattle. The disease manifests as a unilateral or bilateral hyperextension of the hind limb due to increased muscle tone or permanent spasm of mainly the gastrocnemius and/or the quadriceps muscle. Clinical signs only appear in rising, standing and moving animals, which is an important diagnostic feature. Although several medical treatments have been described, surgical procedures such as neurectomy or tenectomy are generally indicated...
October 2016: Veterinary Journal
Ivette A G Deckers, Piet A van den Brandt, Manon van Engeland, Frederik J van Schooten, Roger W L Godschalk, András P Keszei, Janneke G F Hogervorst, Leo J Schouten
We investigated the ion transport mechanism (ITM) in renal cell cancer (RCC) etiology using gene-environment interactions between candidate single nucleotide polymorphisms (SNPs) and associated environmental factors, including dietary intakes of sodium, potassium and fluid, hypertension and diuretic medication. A literature-based selection of 13 SNPs in ten ITM genes were successfully genotyped in toenail DNA of 3,048 subcohort members and 419 RCC cases from the Netherlands Cohort Study. Diet and lifestyle were measured with baseline questionnaires...
September 30, 2016: Scientific Reports
Magnus Jörntén-Karlsson, Stéphane Pintat, Michael Molloy-Bland, Staffan Berg, Matti Ahlqvist
Poor adherence to statins increases cardiovascular disease risk. We systematically identified 32 controlled studies that assessed patient-centered interventions designed to improve statin adherence. The limited number of studies and variation in study characteristics precluded strict quality criteria or meta-analysis. Cognitive education or behavioural counselling delivered face-to-face multiple times consistently improved statin adherence compared with control groups (7/8 and 3/3 studies, respectively). None of four studies using medication reminders and/or adherence feedback alone reported significantly improved statin adherence...
October 2016: Drugs
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