Human Genomics across the Lifespan || Public Health Genomics Knowledge Base (beta version)

Public Health Genomics Knowledge Base (beta version)

About the 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

• Cancer
• Chronic Disease
• Ehics/Policy/Law
• Practice
• Newborn Screening
• Reproductive Health
• News/ Reviews/Comments
• CDC-Authored Genomics Publications

Cancer

• Norwegian Cancer Genomics Consortium: A platform for research on personalized cancer medicine in a public health system. 
  Myklebost Ola et al. Drug discovery today 2015 Oct
• Stool DNA Testing for Screening Detection of Colorectal Neoplasia in Alaska Native People. 
  Redwood Diana G et al. Mayo Clinic proceedings 2015 Oct
• The effectiveness of argumentation in tutorial dialogues with an Intelligent Tutoring System for genetic risk of breast cancer. 
  Cedillos-Whynott Elizabeth M et al. Behavior research methods 2015 Oct
• Association Between Health Behaviors and a Family History of Cancer Among Korean Women. 
  Ham Youngsun et al. Cancer research and treatment : official journal of Korean Cancer Association 2015 Sep
• Clinical utility of KRAS status in circulating plasma DNA compared to archival tumour tissue from patients with metastatic colorectal cancer treated with anti-epidermal growth factor receptor therapy. 
  Spindler Karen-Lise Garm et al. European journal of cancer (Oxford, England : 1990) 2015 Oct

Chronic Diseases

• The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy. 
  Morales Ana et al. The Canadian journal of cardiology 2015 Nov 31(11) 1309-12
• The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. 
  Gidding Samuel S et al. Circulation 2015 Oct
• A model for integrating molecular-based testing in transfusion services. 
  Sandler S Gerald et al. Blood transfusion = Trasfusione del sangue 2015 Sep 1-7
• Six updates in familial hypercholesterolemia, 
  Healio, November 1 , 2015

Ethics, Policy and Law

• Privacy Risks from Genomic Data-Sharing Beacons. 
  Shringarpure Suyash S et al. American journal of human genetics 2015 Oct

Genomics in Practice

• Should relatives have access to family’s genetic information? 
  By Diana Brazzell, Genetic Literacy Project, October 28, 2015
• Standards for Clinical Grade Genomic Databases. 
  Yohe Sophia L et al. Archives of pathology & laboratory medicine 2015 Nov 139(11) 1400-12
• The Many Facets of Genetic Literacy: Assessing the Scalability of Multiple Measures for Broad Use in Survey Research. 
  Abrams Leah R et al. PloS one 2015 10(10) e0141532
• Support Seeking or Familial Obligation: An Investigation of Motives for Disclosing Genetic Test Results. 
  Greenberg Marisa et al. Health communication 2015 Oct 1-11
• New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing. 
  Matthijs Gert et al. European journal of human genetics : EJHG 2015 Oct

Newborn Screening

• Challenges of using next generation sequencing in newborn screening. 
  Reinstein Eyal et al. Genetics research 2015 97e21
• Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey 
  Bellcross CA, et al, Healthcare 2015, 3(4), 964-972;

Reproductive Health

• Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. 
  Eggermann Thomas et al. European journal of human genetics : EJHG 2015 Oct

News/Reviews/Commentaries

• How to make biomedical research more reproducible, 
  by Daniel Cressey, Nature News, October 39, 2015
• Toward Protecting Participants’ Privacy, 
  by Ruth Williams, The Scientist, October 29, 2015
• Why Bioinformatics Analysis Is Not Free, 
  by Dan Koboldt, MassGenomics, October 29, 2015
• The high-risk world of rare genetic diseases, 
  by Andrew Porterfield, Genetic Literacy Project, October 30, 2015
• DNA in blood can track cancer development and response in real time, 
  Cancer Research UK, November 4, 2015
• Gene therapy on brink of golden age: Here’s why, 
  by David Warmflash, Genetic Literacy Project, November 3, 2015
• Change Afoot, 
  Genome Web, October 30, 2015 [by free subscription only]
• Pinpointing the genetic basis of disease, 
  Medical Xpress, November 4, 2015
• Getting Tested For The 'Breast Cancer Genes', 
  Huffington Post, November 3, 2015
• Modern genetics means you should say goodbye to privacy, 
  by Kevin Loria, Business Insider, November 3, 2015
• The 100,000 Genomes Project by numbers, 
  Genomics England, November 2, 2015
• The Dream of Precision Medicine; The Reality of Missing Data, 
  by Lauren Quattrochi, Sense about Science, October 22, 2015
• Small island, big genetic discoveries. 
  Lettre Guillaume, Hirschhorn Joel N Nature genetics 2015 10 0. (11) 1224-5.
• Lifetime of Seeking Rewarded with a Diagnosis, 
  Mayo Clinic, October 31, 2015
• Mom refuses to let strong family history seal her fate, 
  American Heart Association News, October 29, 2015
• UK invests in improving pathology and genomic medicine, 
  by Dr Philippa Brice, PHG Foundation, November 3, 2015
• Out of regulatory limbo, 23andMe resumes some health tests and hopes to offer more, 
  by Erika Check Hayden, Nature News, October 27, 2015
• What You Can Learn From Controversial DIY Gene Tests Like 23andMe, 
  by Anne Harding, News Health, October 29, 2015

All News

CDC-Authored Genomics Publications

• The Activities and Impact of State Programs to Address Hereditary Breast and Ovarian Cancer, 2011–2014 
  Katrina F. Trivers , Juan L. Rodriguez , Summer L. Cox 2,, Barbara E. Crane, and Debra Duquette Healthcare 2015, 3(4), 948-963;
• Development of a TaqMan Array Card for Acute Febrile Illness Outbreak Investigation and Surveillance of Emerging Pathogens including Ebola Virus.
  Liu Jie, Ochieng Caroline, Wiersma Steve, Ströher Ute, Towner Jonathan S, Whitmer Shannon, Nichol Stuart T, Moore Christopher C, Kersh Gilbert J, Kato Cecilia, Sexton Christopher, Petersen Jeannine, Massung Robert, Hercik Christine, Crump John A, Kibiki Gibson, Maro Athanasia, Mujaga Buliga, Gratz Jean, Jacob Shevin T, Banura Patrick, Scheld W Michael, Juma Bonventure, Onyango Clayton O, Montgomery Joel M, Houpt Eric, Fields Barry Journal of clinical microbiology 2015 10 0. .
• A molecular sensor to characterize arenavirus envelope glycoprotein cleavage by subtilisin kexin isozyme-1 (SKI-1)/site-1 protease (S1P). 
  Oppliger Joel, da Palma Joel Ramos, Burri Dominique J, Bergeron Eric, Khatib Abdel-Majid, Spiropoulou Christina F, Pasquato Antonella, Kunz Stefan Journal of virology 2015 10 0. .
• Survey of influenza and other respiratory viruses diagnostic testing in US hospitals, 2012-13. 
  Su Su, Fry Alicia M, Kirley Pam Daily, Aragon Deborah, Yousey-Hindes Kimberly, Meek James, Openo Kyle, Oni Oluwakemi, Sharangpani Ruta, Morin Craig, Hollick Gary, Lung Krista, Laidler Matt, Lindegren Mary Lou, Schaffner William, Atkinson Annette, Chaves Sandra S Influenza and other respiratory viruses 2015 10 0. .
• Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection. 
  Dutmer Cullen M, Asturias Edwin J, Smith Christiana, Dishop Megan K, Schmid D Scott, Bellini William J, Tirosh Irit, Lee Yu Nee, Notarangelo Luigi D, Gelfand Erwin W Journal of clinical immunology 2015 10 0. .
• Whole Genome Sequencing Analysis Accurately Predicts Antimicrobial Resistance Phenotypes in Campylobacter. 
  Zhao S, Tyson G H, Chen Y, Li C, Mukherjee S, Young S, Lam C, Folster J P, Whichard J M, McDermott P F Applied and environmental microbiology 2015 10 0. .
• Implementation of new approaches for generating conventional reassortants for live attenuated influenza vaccine based on Russian master donor viruses. 
  Shcherbik Svetlana, Pearce Nicholas, Kiseleva Irina, Larionova Natalie, Rudenko Larisa, Xu Xiyan, Wentworth David E, Bousse Tatiana Journal of virological methods 2015 10 0. .
• Phenotypic variability confirmed by nuclear ribosomal DNA suggests a possible natural hybrid zone of Triatoma brasiliensis species complex. 
  Costa Jane, Bargues Maria Dolores, Neiva Vanessa Lima, Lawrence Gena G, da Rocha Gumiel Marcia Ximena, Oliveira Genova, Cabello Pedro, Lima Marli Maria, Dotson Ellen, Provance David William, Almeida Carlos Eduardo, Mateo Lucia, Mas-Coma Santiago, Dujardin Jean Pierre Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2015 10 0. .
• Genetic variability and population structure of Plasmodium falciparum parasite populations from different malaria ecological regions of Kenya. 
  Ingasia Luicer A, Cheruiyot Jelagat, Okoth Sheila Akinyi, Andagalu Ben, Kamau Edwin Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2015 10 0. .
• Rv3351c, a Mycobacterium tuberculosis gene that affects bacterial growth and alveolar epithelial cell viability. 
  Pavlicek Rebecca L, Fine-Coulson Kari, Gupta Tuhina, Quinn Frederick D, Posey James E, Willby Melisa, Castro-Garza Jorge, Karls Russell K Canadian journal of microbiology 2015 10 0. 1-10.
• Human Gene Expression in Uncomplicated Plasmodium falciparum Malaria. 
  Colborn James M, Ylöstalo Joni H, Koita Ousmane A, Cissé Ousmane H, Krogstad Donald J Journal of immunology research 2015 0 0. 162639.
• Genetic Diversity and Protective Efficacy of the RTS,S/AS01 Malaria Vaccine. 
  Neafsey Daniel E, Juraska Michal, Bedford Trevor, Benkeser David, Valim Clarissa, Griggs Allison, Lievens Marc, Abdulla Salim, Adjei Samuel, Agbenyega Tsiri, Agnandji Selidji T, Aide Pedro, Anderson Scott, Ansong Daniel, Aponte John J, Asante Kwaku Poku, Bejon Philip, Birkett Ashley J, Bruls Myriam, Connolly Kristen M, D'Alessandro Umberto, Dobaño Carlota, Gesase Samwel, Greenwood Brian, Grimsby Jonna, Tinto Halidou, Hamel Mary J, Hoffman Irving, Kamthunzi Portia, Kariuki Simon, Kremsner Peter G, Leach Amanda, Lell Bertrand, Lennon Niall J, Lusingu John, Marsh Kevin, Martinson Francis, Molel Jackson T, Moss Eli L, Njuguna Patricia, Ockenhouse Christian F, Ragama Ogutu Bernhards, Otieno Walter, Otieno Lucas, Otieno Kephas, Owusu-Agyei Seth, Park Daniel J, Pellé Karell, Robbins Dana, Russ Carsten, Ryan Elizabeth M, Sacarlal Jahit, Sogoloff Brian, Sorgho Hermann, Tanner Marcel, Theander Thor, Valea Innocent, Volkman Sarah K, Yu Qing, Lapierre Didier, Birren Bruce W, Gilbert Peter B, Wirth Dyann F The New England journal of medicine 2015 10 0. .