Human Genomics across the Lifespan || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

Health Impact Weekly Scan

Human Genomics across the Lifespan

• Birth Defects/Child Health
• Cancer
• Chronic Disease
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Pharmacogenomics
• Reproductive Health
• News/ Reviews/Comments
• CDC-Authored Genomics Publications

Birth Defects and Child Health

• Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned. 
  Risitano Antonio M et al. Haematologica 2015 Dec

Cancer

• Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma. 
  Schiavi A et al. Current oncology (Toronto, Ont.) 2015 Oct 22(5) 317-325
• Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology. 
  Deverka Patricia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
• Personalized treatment options for ALK-positive metastatic non-small-cell lung cancer: potential role for Ceritinib. 
  El-Osta Hazem et al. Pharmacogenomics and personalized medicine 8145-154
• Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes - a Single Center Experience. 
  Ermolenko Natalya A et al. Asian Pacific journal of cancer prevention : APJCP 2015 16(17) 7935-41
• Clinicopathologic implications of DNA mismatch repair status in endometrial carcinomas. 
  Shikama Ayumi et al. Gynecologic oncology 2015 Nov

Chronic Diseases

• Genes That Protect Against Dementia (Maybe), 
  by Ricki Lewis, DNA Science Blog, December 10, 2015
• Obesity Genes, Personalized Medicine, and Public Health Policy. 
  Caulfield Timothy et al. Current obesity reports 2015 Sep 4(3) 319-23

Ethics, Policy and Law

• Obtaining informed consent for genomics research in Africa: analysis of H3Africa consent documents. 
  Munung Nchangwi Syntia et al. Journal of medical ethics 2015 Dec
• Privacy in the Genomic Era. 
  Naveed Muhammad et al. ACM computing surveys 2015 Sep 48(1)
• Genome Editing Technologies and Human Germline Genetic Modification: The Hinxton Group Consensus Statement. 
  Chan Sarah et al. The American journal of bioethics : AJOB 2015 Dec 15(12) 42-7

Genomics in Practice

• Molecular diagnostic experience of whole-exome sequencing in adult patients. 
  Posey Jennifer E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
• Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). 
  Green Ridgely Fisk et al. Healthcare (Basel) 3(3) 830-837
• Planning for the Future of Epidemiology in the Era of Big Data and Precision Medicine. 
  Khoury Muin J et al. American journal of epidemiology 2015 Dec
• Economic evaluation of whole-genome sequencing in healthy individuals: what can we learn from CEAs of whole-body CT screening? 
  Lu Christine Y et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
• Clinical application of whole-exome sequencing across clinical indications. 
  Retterer Kyle et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
• Motivations, Barriers, and Behaviors Related to Obtaining and Discussing Family Health History: A Sex-Based Comparison Among Young Adults. 
  Smith Matthew Lee et al. Frontiers in public health 3249

Cardiovascular Diseases

• Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Association and American College of Cardiology. 
  Maron Barry J et al. Circulation 2015 Dec 132(22) e273-80
• The Prognostic Value of Family History for the Estimation of Cardiovascular Mortality Risk in Men: Results from a Long-Term Cohort Study in Lithuania. 
  Tamosiunas Abdonas et al. PloS one 2015 10(12) e0143839

Reproductive Health

• Cell free fetal DNA testing in maternal blood of Romanian pregnant women. 
  Radoi Viorica E et al. Iranian journal of reproductive medicine 2015 Oct 13(10) 623-626

Pharmacogenomics

• Clinician Perspectives on Using Pharmacogenomics in Clinical Practice. 
  Unertl Kim M et al. Personalized medicine 12(4) 339-347
• Physician perspectives of CYP2C19 and clopidogrel drug-gene interaction active clinical decision support alerts. 
  Nishimura Adam A et al. International journal of medical informatics 2015 Nov
• Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. 
  Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2015 Nov
• A prognostic model based on readily available clinical data enriched a preemptive pharmacogenetic testing program. 
  Schildcrout Jonathan S et al. Journal of clinical epidemiology 2015 Nov
• Rational selection of predictive pharmacogenomics test for the Fluoropyrimidine/Oxaliplatin based therapy. 
  Di Francia R et al. European review for medical and pharmacological sciences 2015 Nov 19(22) 4443-54

News/Reviews/Commentaries

• The ethics of human gene editing: a societal issue, 
  by Dr Philippa Brice, PHG Foundation Blog, December 7, 2015
• Genomics Company 23andMe Once Again Selling Some Direct-to-Consumer Genetics Tests, 
  Lab Tests Online, December 3, 2015
• More than skin deep: genomics and dermatology, 
  Genomics Education Programme, December 4, 2015
• Plans for an Australian 100,000 Genomes Project, 
  by Dr Philippa Brice, PHG Foundation, December 6, 2015
• Biomarkers Outperform Symptoms in Parsing Psychosis Subgroups, 
  National Institute of Mental Health, December 8, 2015
• Cancer Treatments May Need To Be Tailored To Each Tumor, 
  by Angus Chen, NPR, December 9, 2015
• Creative Minds: Applying CRISPR Technology to Cancer Drug Resistance, 
  by Dr. Francis Collins, NIH Director's Blog, December 10, 2015
• Why we still don’t have personalised medicine, 15 years after sequencing the human genome, 
  by Bryony Graham, the Conversation, December 1, 2015
• Data Storage on DNA Can Keep It Safe for Centuries, 
  by John Markoff, New York Times, December 3, 2015
• The Naturome Awaits the Nurturome, 
  by Richard A. Stein, GEN News, December 1, 2015
• Uncovering cancer’s genetic hiding spots, 
  by Shaan Bhambra, the Varsity, December 6, 2015
• Should DNA donors see their genomic data? 
  By Rachel Becker, Nature News, December 3, 2015
• Cystic Fibrosis: Keeping the Momentum Going, 
  by Dr. Francis Collins, NIH Director?s Blog, December 8, 2015
• Personalized medicine: Better results, but at what cost? 
  By Dan Mangan, CNBC, December 4, 2015
• Unlocking my genome: Was it worth it? 
  By Meg Tirrell, CNBC, December 10, 2015

CDC-Authored Genomics Publications

• Assessment of Inhibitors of Pathogenic Crimean-Congo Hemorrhagic Fever Virus Strains Using Virus-Like Particles. 
  Zivcec Marko, Metcalfe Maureen G, Albariño César G, Guerrero Lisa W, Pegan Scott D, Spiropoulou Christina F, Bergeron Éric PLoS neglected tropical diseases 2015 12 0. (12) e0004259.
• Representativeness of Tuberculosis Genotyping Surveillance in the United States, 2009-2010. 
  Shak Emma B, France Anne Marie, Cowan Lauren, Starks Angela M, Grant Juliana Public health reports (Washington, D.C. : 1974) 0 0 0. (6) 596-601.
• Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium. 
  Piel Frédéric B, Adamkiewicz Thomas V, Amendah Djesika, Williams Thomas N, Gupta Sunetra, Grosse Scott D Genetics in medicine : official journal of the American College of Medical Genetics 2015 12 0. .
• Genome of Rhodnius prolixus, an insect vector of Chagas disease, reveals unique adaptations to hematophagy and parasite infection. 
  Mesquita Rafael D, Vionette-Amaral Raquel J, Lowenberger Carl, Rivera-Pomar Rolando, Monteiro Fernando A, Minx Patrick, Spieth John, Carvalho A Bernardo, Panzera Francisco, Lawson Daniel, Torres André Q, Ribeiro Jose M C, Sorgine Marcos H F, Waterhouse Robert M, Montague Michael J, Abad-Franch Fernando, Alves-Bezerra Michele, Amaral Laurence R, Araujo Helena M, Araujo Ricardo N, Aravind L, Atella Georgia C, Azambuja Patricia, Berni Mateus, Bittencourt-Cunha Paula R, Braz Gloria R C, Calderón-Fernández Gustavo, Carareto Claudia M A, Christensen Mikkel B, Costa Igor R, Costa Samara G, Dansa Marilvia, Daumas-Filho Carlos R O, De-Paula Iron F, Dias Felipe A, Dimopoulos George, Emrich Scott J, Esponda-Behrens Natalia, Fampa Patricia, Fernandez-Medina Rita D, da Fonseca Rodrigo N, Fontenele Marcio, Fronick Catrina, Fulton Lucinda A, Gandara Ana Caroline, Garcia Eloi S, Genta Fernando A, Giraldo-Calderón Gloria I, Gomes Bruno, Gondim Katia C, Granzotto Adriana, Guarneri Alessandra A, Guigó Roderic, Harry Myriam, Hughes Daniel S T, Jablonka Willy, Jacquin-Joly Emmanuelle, Juárez M Patricia, Koerich Leonardo B, Latorre-Estivalis José Manuel, Lavore Andrés, Lawrence Gena G, Lazoski Cristiano, Lazzari Claudio R, Lopes Raphael R, Lorenzo Marcelo G, Lugon Magda D, Majerowicz David, Marcet Paula L, Mariotti Marco, Masuda Hatisaburo, Megy Karine, Melo Ana C A, Missirlis Fanis, Mota Theo, Noriega Fernando G, Nouzova Marcela, Nunes Rodrigo D, Oliveira Raquel L L, Oliveira-Silveira Gilbert, Ons Sheila, Pagola Lucia, Paiva-Silva Gabriela O, Pascual Agustina, Pavan Marcio G, Pedrini Nicolás, Peixoto Alexandre A, Pereira Marcos H, Pike Andrew, Polycarpo Carla, Prosdocimi Francisco, Ribeiro-Rodrigues Rodrigo, Robertson Hugh M, Salerno Ana Paula, Salmon Didier, Santesmasses Didac, Schama Renata, Seabra-Junior Eloy S, Silva-Cardoso Livia, Silva-Neto Mario A C, Souza-Gomes Matheus, Sterkel Marcos, Taracena Mabel L, Tojo Marta, Tu Zhijian Jake, Tubio Jose M C, Ursic-Bedoya Raul, Venancio Thiago M, Walter-Nuno Ana Beatriz, Wilson Derek, Warren Wesley C, Wilson Richard K, Huebner Erwin, Dotson Ellen M, Oliveira Pedro L Proceedings of the National Academy of Sciences of the United States of America 2015 12 0. (48) 14936-14941.
• Genetically modifying the insect gut microbiota to control Chagas disease vectors through systemic RNAi. 
  Taracena Mabel L, Oliveira Pedro L, Almendares Olivia, Umaña Claudia, Lowenberger Carl, Dotson Ellen M, Paiva-Silva Gabriela O, Pennington Pamela M PLoS neglected tropical diseases 2015 2 0. (2) e0003358.
• Eco-epidemiological study of an endemic Chagas disease region in northern Colombia reveals the importance of Triatoma maculata (Hemiptera: Reduviidae), dogs and Didelphis marsupialis in Trypanosoma cruzi maintenance. 
  Cantillo-Barraza Omar, Garcés Edilson, Gómez-Palacio Andrés, Cortés Luis A, Pereira André, Marcet Paula L, Jansen Ana M, Triana-Chávez Omar Parasites & vectors 2015 0 0. (1) 482.
• Finished Annotated Genome Sequence of Burkholderia pseudomallei Strain Bp1651, a Multidrug-Resistant Clinical Isolate. 
  Bugrysheva Julia V, Sue David, Hakovirta Janetta, Loparev Vladimir N, Knipe Kristen, Sammons Scott A, Ranganathan-Ganakammal Satishkumar, Changayil Shankar, Srinivasamoorthy Ganesh, Weil Michael R, Tatusov Roman L, Gee Jay E, Elrod Mindy G, Hoffmaster Alex R, Weigel Linda M Genome announcements 0 0 0. (6) .
• Sustainable HIV treatment in Africa through viral-load-informed differentiated care. 
  , Phillips Andrew, Shroufi Amir, Vojnov Lara, Cohn Jennifer, Roberts Teri, Ellman Tom, Bonner Kimberly, Rousseau Christine, Garnett Geoff, Cambiano Valentina, Nakagawa Fumiyo, Ford Deborah, Bansi-Matharu Loveleen, Miners Alec, Lundgren Jens D, Eaton Jeffrey W, Parkes-Ratanshi Rosalind, Katz Zachary, Maman David, Ford Nathan, Vitoria Marco, Doherty Meg, Dowdy David, Nichols Brooke, Murtagh Maurine, Wareham Meghan, Palamountain Kara M, Chakanyuka Musanhu Christine, Stevens Wendy, Katzenstein David, Ciaranello Andrea, Barnabas Ruanne, Braithwaite R Scott, Bendavid Eran, Nathoo Kusum J, van de Vijver David, Wilson David P, Holmes Charles, Bershteyn Anna, Walker Simon, Raizes Elliot, Jani Ilesh, Nelson Lisa J, Peeling Rosanna, Terris-Prestholt Fern, Murungu Joseph, Mutasa-Apollo Tsitsi, Hallett Timothy B, Revill Paul Nature 2015 12 0. (7580) S68-76.
• Genomic Epidemiology of Hypervirulent Serogroup W, ST-11 Neisseria meningitidis. 
  Mustapha Mustapha M, Marsh Jane W, Krauland Mary G, Fernandez Jorge O, de Lemos Ana Paula S, Dunning Hotopp Julie C, Wang Xin, Mayer Leonard W, Lawrence Jeffrey G, Hiller N Luisa, Harrison Lee H EBioMedicine 2015 10 0. (10) 1447-55.
• Balamuthia mandrillaris Encephalitis: Survival of a Child With Severe Meningoencephalitis and Review of the Literature. 
  Moriarty Paul, Burke Christopher, McCrossin David, Campbell Robert, Cherian Sarah, Shahab Mohammad Shekeeb, Visvesvara Govinda S, Nourse Clare Journal of the Pediatric Infectious Diseases Society 2014 3 0. (1) e4-9.