Recent Additions to the Genomics and Health Impact Scan Database (November 22)

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.