Published on 11/22/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis.
Landfeldt Erik et al. PharmacoEconomics 2016 Oct -
Clinical utility gene card for: 16p12.2 microdeletion.
Pizzo Lucilla et al. European journal of human genetics : EJHG 2016 Nov -
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy Nikolas et al. Journal of inherited metabolic disease 2016 Nov -
Improving the lives of people with sickle cell disease
R Cook, CDC Foundation Blog Post, November 21, 2016 -
New Fragile X tests may improve research on the disorder: Tests' ability to provide detailed information about genetic mutations and lower cost raise hope for clinical use and newborn screening.
et al. American journal of medical genetics. Part A 2016 Dec 170(12) 3064-3065 -
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Bogue Lauren et al. Neuromuscular disorders : NMD 2016 Sep -
Finding your diagnosis in the brave new world of genetics-based medicine
J Hewitt, Medical Xpress, November 21, 2016
Cancer
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Detection of false positive mutations in BRCA gene by next generation sequencing.
Suryavanshi Moushumi et al. Familial cancer 2016 Nov -
Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.
Márquez-Rodas I et al. Oncology 2016 Nov -
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.
et al. Nature reviews. Endocrinology 2016 Nov -
Clinical utility of next-generation sequencing-based minimal residual disease in paediatric B-cell acute lymphoblastic leukaemia.
Sekiya Yuko et al. British journal of haematology 2016 Nov -
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next Generation Sequencing.
Nowak Jonathan A et al. The Journal of molecular diagnostics : JMD 2016 Nov -
A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma.
Jiménez Cristina et al. The Journal of molecular diagnostics : JMD 2016 Nov -
Diagnosis and treatment of chronic lymphocytic leukemia: recommendations from the Brazilian Group of Chronic Lymphocytic Leukemia.
Rodrigues Celso Arrais et al. Revista brasileira de hematologia e hemoterapia 38(4) 346-357 -
Precision medicine in oncology: New practice models and roles for oncology pharmacists.
Walko Christine et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1935-1942 -
Towards value-based universal Lynch syndrome identification in endometrial cancer patients.
Dottino Joseph A et al. Gynecologic oncology 2016 Dec 143(3) 451-452 -
Clinical Impact of Hybrid Capture-Based Next-Generation Sequencing on Changes in Treatment Decisions in Lung Cancer.
Rozenblum Anna Belilovski et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016 Nov -
Association of Molecular Marker Status With Graded Prognostic Assessment of Lung Cancer With Brain Metastases.
Suh John H, et al. JAMA oncology 2017 6 0. (6) 831-832 -
Estimating Survival in Patients With Lung Cancer and Brain Metastases: An Update of the Graded Prognostic Assessment for Lung Cancer Using Molecular Markers (Lung-molGPA).
Sperduto Paul W, et al. JAMA oncology 2017 6 0. (6) 827-831
Chronic Disease
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A Value-Based Medicine cost-utility analysis of genetic testing for neovascular macular degeneration.
Brown Gary C et al. International journal of retina and vitreous 2015 119 -
Genetic screening for neovascular AMD: cost effective…not so quick.
Reichel Elias et al. International journal of retina and vitreous 2015 124 -
Surgeon General's Report on Alcohol, Drugs, and Health.
Murthy Vivek H et al. JAMA 2016 Nov -
Family Medical History.
Bontempo Laura J et al. Academic emergency medicine : official journal of the Society for Academic Emergency Medicine 2016 Nov -
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps Carme et al. Haematologica 2016 Nov 101(11) 1306-1318 -
Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis.
Vanclooster Annick et al. BMC health services research 2016 Oct 16(1) 573
Practice
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My Identical Twin Sequenced our Genome.
Schilit Samantha L P et al. Journal of genetic counseling 2016 Nov -
An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants.
Kleinberger Jeffrey et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Nov 18(11) 1165 -
Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice.
Paul Jean Lillian et al. European journal of human genetics : EJHG 2016 Nov -
Payer view of personalized medicine.
Pezalla Edmund J et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 2007-2012 -
Genome editing: progress and challenges for medical applications.
Carroll Dana et al. Genome medicine 2016 Nov 8(1) 120
Heart, Lung, Blood and Sleep Diseases
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Genetic testing in cardiomyopathies: an update on indications and benefits.
Aleksova Natasha et al. Current opinion in cardiology 2016 Nov -
A qualitative study of patients' perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH).
Hallowell Nina et al. Journal of community genetics 2016 Nov
Newborn Screening
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Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima Go et al. Molecular genetics and metabolism 2016 Oct
Pharmacogenomics
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Influence of Genotype on Warfarin Maintenance Dose Predictions Produced Using a Bayesian Dose Individualization Tool.
Saffian Shamin M et al. Therapeutic drug monitoring 2016 Dec 38(6) 677-683 -
Incidence of Exposure of Patients in the United States to Multiple Drugs for Which Pharmacogenomic Guidelines Are Available.
Samwald Matthias et al. PloS one 2016 11(10) e0164972 -
866: PHARMACOGENOMIC-BASED EVALUATION OF FENTANYL REQUIREMENTS IN DIAGNOSTICALLY DIVERSE PICU PATIENTS.
Horvat Christopher et al. Critical care medicine 2016 Dec 44(12 Suppl 1) 292 -
Implementation of inpatient models of pharmacogenetics programs.
Cavallari Larisa H et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1944-1954 -
Implementation of a multidisciplinary pharmacogenomics clinic in a community health system.
Dunnenberger Henry M et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1956-1966 -
Integrating pharmacogenomics into electronic health records with clinical decision support.
Hicks J Kevin et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1967-1976 -
Evidence and resources to implement pharmacogenetic knowledge for precision medicine.
Caudle Kelly E et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1977-1985 -
Educational strategies to enable expansion of pharmacogenomics-based care.
Weitzel Kristin Wiisanen et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1986-1998 -
Clinical and regulatory considerations in pharmacogenetic testing.
Schuck Robert N et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1999-2006 -
Pharmacists should jump onto the clinical pharmacogenetics train.
Johnson Julie A et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 2013-2016
Reproductive Health
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Pre-implantation genetic diagnosis.
Traeger-Synodinos Joanne et al. Best practice & research. Clinical obstetrics & gynaecology 2016 Oct -
Clinical utility of array comparative genomic hybridisation in prenatal setting.
Lovrecic Luca et al. BMC medical genetics 2016 Nov 17(1) 81 -
Views of American OB/GYNs on the ethics of prenatal whole-genome sequencing.
Bayefsky Michelle J et al. Prenatal diagnosis 2016 Nov