Public Health Genomics Knowledge Base (v1.2)
Recent Additions to the Genomics and Health Impact Scan Database (November 22)
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
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Human Genomics across the Lifespan
Birth Defects/Child Health
Cancer
Chronic Disease
Practice
Cardiovascular Diseases
Newborn Screening
Pharmacogenomics
Reproductive Health
Birth Defects and Child Health
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
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
JH Suh, JAMA Oncology, November 17, 2016
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)
PW Sperduto etg al, JAMA Oncolology, November 17, 2016
Chronic Diseases
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
The Surgeon General Report on Alcohol, Drugs and Health
Surgeon General, HHS, November 2016
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
Genomics in Practice
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
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia Sarah S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Nov
Genome editing: progress and challenges for medical applications.
Carroll Dana et al. Genome medicine 2016 Nov 8(1) 120
Cardiovascular Diseases
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
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima Go et al. Molecular genetics and metabolism 2016 Oct
Reproductive Health
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
Pharmacogenomics
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
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.