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Public Health Genomics Knowledge Base (v1.0)



July 20-28, 2016 



ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÓMICA Y SU IMPACTO EN LA SALUD PÚBLICA || TRATADO CONTINUO DE ENFERMEDADES USUALMENTE "NO COMUNICABLES" - Public Health Genomics Knowledge Base (v1.0) | 24 de JULIO de 2016



ACTUALIZACIÓN QUE COMPRENDE desde el 20 de JULIO al 28 de JULIO de 2016

Health Impact Weekly Scan

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.

Archived Editions

Search Genomics & Health Impact Scan database

Visit CDC Office of Public Health Genomics website

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

• The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. 
  Grigsby Jim et al. The Clinical neuropsychologist 2016 Aug 30(6) 815-33
• Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis. 
  Tridello Gloria et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Jul

Cancer

• Breast-cancer-specific mortality in patients treated based on the 21-gene assay: a SEER population-based study 
  V Petkov et al, NPJ Breast Cancer, 2016
• Celebrity Influence and Identification: A Test of the Angelina Effect. 
  Kosenko Kami A et al. Journal of health communication 2016 21(3) 318-26
• Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. 
  George Angela et al. Scientific reports 2016 629506
• Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine. 
  Silverstein Allison et al. International journal of breast cancer 2016 20164792865
• Streamlined genetic testing pathway is developed for women with ovarian cancer. 
  Wise Jacqui et al. BMJ (Clinical research ed.) 2016 354i3900
• Video-assisted genetic counseling in patients with ovarian, fallopian and peritoneal carcinoma. 
  Watson Catherine H et al. Gynecologic oncology 2016 Jul
• A Prospective Blinded Evaluation of Urine-DNA Testing for Detection of Urothelial Bladder Carcinoma in Patients with Gross Hematuria. 
  Dahmcke Christina M et al. European urology 2016 Jul
• Hereditary Cancer: Example of a Public Health Approach to Ensure Population Health Benefits of Genetic Medicine. 
  Cragun Deborah et al. Healthcare (Basel, Switzerland) 2016 4(1)
• Expert and Advocacy Group Consensus Findings on the Horizon of Public Health Genetic Testing. 
  Modell Stephen M et al. Healthcare (Basel, Switzerland) 2016 4(1)
• Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome. 
  Trepanier Angela M et al. Healthcare (Basel, Switzerland) 2016 4(1)
• Understanding the Needs of Young Women Regarding Breast Cancer Risk Assessment and Genetic Testing: Convergence and Divergence among Patient-Counselor Perceptions and the Promise of Peer Support. 
  Evans Chalanda et al. Healthcare (Basel, Switzerland) 2016 4(3)
• DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics 
  de Rosa N, et al. JCO July 18, 2016

Chronic Diseases

• Brain changes wrought by gene linked to Alzheimer’s may begin in childhood, scientists say 
  K Kaplan, LA Times, July 13, 2016
• Epigenetic epidemiology as a tool to understand the role of immunity in chronic disease. 
  Nelson Heather H et al. Epigenomics 2016 Jul
• The critical role of epigenetics in systemic lupus erythematosus and autoimmunity. 
  Long Hai et al. Journal of autoimmunity 2016 Jul
• Type 2 diabetes: genetic data sharing to advance complex disease research. 
  Flannick Jason et al. Nature reviews. Genetics 2016 Jul
• Inflammation and epigenetic regulation in osteoarthritis. 
  Shen Jie et al. Connective tissue research 2016 Jul
• The effect of communicating the genetic risk of cardiometabolic disorders on motivation and actual engagement in preventative lifestyle modification and clinical outcome: a systematic review and meta-analysis of randomised controlled trials. 
  Li Sherly X et al. The British journal of nutrition 2016 Jul 1-11
• A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians. 
  Ang Su Fen et al. Diabetes research and clinical practice 2016 Jul 11913-22

Ethics, Policy and Law

• The ethics of conducting molecular autopsies in the cases of sudden death in the young. 
  McGuire Amy et al. Genome research 2016 Jul
• No One Should Edit The Genes Of Embryos To Make Babies, NIH Chief Says 
  Buzzfeed, July 2016
• Ethics, Guidelines for Molecular Autopsy in Youth Sudden Death Explored by Texas Team, 
  Genome Web, July 15, 2016
• Has the biobank bubble burst? Withstanding the challenges for sustainable biobanking in the digital era. 
  Chalmers Don et al. BMC medical ethics 2016 17(1) 39

Genomics in Practice

• Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine 
  S Petrovski et al, Genome Biology, July 14, 2016
• Crowdsourcing biomedical research: leveraging communities as innovation engines. 
  Saez-Rodriguez Julio et al. Nature reviews. Genetics 2016 Jul 17(8) 470-86
• The White House Is Pushing Precision Medicine, but It Won’t Happen for Years 
  M Orcutt, MIT Tech Review, July 2016
• The Qatar genome: a population-specific tool for precision medicine in the Middle East. 
  Fakhro Khalid A et al. Human genome variation 2016 316016
• How ‘digitizing you and me’ could revolutionize medicine. At least in theory 
  Stat News, July 2016
• Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study. 
  Junier Thomas et al. Open forum infectious diseases 2016 Apr 3(2) ofw101
• Genetic Test Results That Identify Increased Risk Do Not Change Behavior. 
  Shaughnessy Allen F et al. American family physician 2016 Jul 94(2) 168
• User-centered design of multi-gene sequencing panel reports for clinicians. 
  Cutting Elizabeth et al. Journal of biomedical informatics 2016 Jul
• Evaluation of a New Genetic Epidemiology Resource: The Intermountain Genealogy Registry. 
  Knight Stacey et al. Human heredity 2016 Jul 81(1) 1-10

Cardiovascular Diseases

• Statins in Familial Hypercholesterolemia: Consequences for Coronary Artery Disease and All-Cause Mortality. 
  Besseling Joost et al. Journal of the American College of Cardiology 2016 Jul 68(3) 252-60
• Morphologic features of culprit lesions in sudden coronary death with family history of premature coronary artery disease. 
  Zhang Ming Chang et al. Forensic science international 2016 Jul 266412-415
• Knowledge gaps in the management of familial hypercholesterolaemia. A UK based survey 
  J Schofield et al, Atherosclerosis, July 2016

Reproductive Health

• What Do Parents Think about Chromosomal Microarray Testing? A Qualitative Report from Parents of Children with Autism Spectrum Disorders. 
  Xu Lei et al. Autism research and treatment 2016 20166852539
• Clinical experience of unexpected findings in prenatal array testing. 
  Joosten Marieke et al. Biomarkers in medicine 2016 Aug 10(8) 831-840
• Epigenetics: A key paradigm in reproductive health. 
  Bunkar Neha et al. Clinical and experimental reproductive medicine 2016 Jun 43(2) 59-81
• Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management. 
  Capalbo Antonio et al. Journal of assisted reproduction and genetics 2016 Jul

Pharmacogenomics

• Pharmacogenomics in type 2 diabetes: oral antidiabetic drugs 
  MA Daniels et al, Pharmacogenomics Journal, July 18 2016
• Cost-Effectiveness of Pharmacogenomic and Pharmacogenetic Test-Guided Personalized Therapies: A Systematic Review of the Approved Active Substances for Personalized Medicine in Germany. 
  Plöthner Marika et al. Advances in therapy 2016 Jul
• Assessment of pharmacogenomic agreement. 
  Safikhani Zhaleh et al. F1000Research 2016 5825
• Determining a Drug Response 
  S Collins, Genome Magazine, Summer 2016

News/Reviews/Commentaries

• The White House Is Pushing Precision Medicine, but It Won’t Happen for Years, 
  by Mike Orcutt, Technology Review, July 18, 2016
• Do CRISPR enthusiasts have their head in the sand about the safety of gene editing? 
  S Begley, StatNews, July 18, 2016
• Mendelian randomization in (epi)genetic epidemiology: an effective tool to be handled with care. 
  Latvala Antti, Ollikainen Miina Genome biology 2016 0 0. (1) 156.
• Big data meets human health 
  C Farrington, Science, July 15, 2016

CDC-Authored Genomics Publications

• Zika virus in the Americas: Early epidemiological and genetic findings. 
  Faria Nuno Rodrigues, Azevedo Raimunda do Socorro da Silva, Kraemer Moritz U G, Souza Renato, Cunha Mariana Sequetin, Hill Sarah C, Thézé Julien, Bonsall Michael B, Bowden Thomas A, Rissanen Ilona, Rocco Iray Maria, Nogueira Juliana Silva, Maeda Adriana Yurika, Vasami Fernanda Giseli da Silva, Macedo Fernando Luiz de Lima, Suzuki Akemi, Rodrigues Sueli Guerreiro, Cruz Ana Cecilia Ribeiro, Nunes Bruno Tardeli, Medeiros Daniele Barbosa de Almeida, Rodrigues Daniela Sueli Guerreiro, Nunes Queiroz Alice Louize, da Silva Eliana Vieira Pinto, Henriques Daniele Freitas, Travassos da Rosa Elisabeth Salbe, de Oliveira Consuelo Silva, Martins Livia Caricio, Vasconcelos Helena Baldez, Casseb Livia Medeiros Neves, Simith Darlene de Brito, Messina Jane P, Abade Leandro, Lourenço José, Carlos Junior Alcantara Luiz, de Lima Maricélia Maia, Giovanetti Marta, Hay Simon I, de Oliveira Rodrigo Santos, Lemos Poliana da Silva, de Oliveira Layanna Freitas, de Lima Clayton Pereira Silva, da Silva Sandro Patroca, de Vasconcelos Janaina Mota, Franco Luciano, Cardoso Jedson Ferreira, Vianez-Júnior João Lídio da Silva Gonçalves, Mir Daiana, Bello Gonzalo, Delatorre Edson, Khan Kamran, Creatore Marisa, Coelho Giovanini Evelim, de Oliveira Wanderson Kleber, Tesh Robert, Pybus Oliver G, Nunes Marcio R T, Vasconcelos Pedro F C Science (New York, N.Y.) 2016 4 0. (6283) 345-9.
• Chromosome and Linear Plasmid Sequences of a 2015 Human Isolate of the Tick-Borne Relapsing Fever Spirochete, Borrelia turicatae. 
  Kingry Luke C, Batra Dhwani, Replogle Adam, Sexton Christopher, Rowe Lori, Stermole Benjamin M, Christensen Anna M, Schriefer Martin E Genome announcements 2016 0 0. (4) .
• Genome-scale comparison of expanded gene families in Plasmodium ovale wallikeri and Plasmodium ovale curtisi with Plasmodium malariae and with other Plasmodium species. 
  Ansari Hifzur Rahman, Templeton Thomas J, Subudhi Amit Kumar, Ramaprasad Abhinay, Tang Jianxia, Lu Feng, Naeem Raeece, Hashish Yasmeen, Oguike Mary C, Benavente Ernest Diez, Clark Taane G, Sutherland Colin J, Barnwell John W, Culleton Richard, Cao Jun, Pain Arnab International journal for parasitology 2016 7 0. .
• Molecular Typing of Treponema pallidum in Ocular Syphilis. 
  Oliver Sara, Sahi Sharon K, Tantalo Lauren C, Godornes Charmie, Neblett Fanfair Robyn, Markowitz Lauri E, Lukehart Sheila A, Marra Christina M Sexually transmitted diseases 2016 8 0. (8) 524-7.

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.

Public Health Genomics Knowledge Base (v1.0)