Health Impact Weekly Scan
los capítulos incluidos en esta sección, se actualizarán semanalmente, incorporando documentos y accesos a nuevas bases de datos que actualmente están en desarrollo... los contenidos, como es costumbre en secciones avanzadas, están únicamente en idioma inglés y reflejan los últimos contenidos editados en cada materia en todo el mundo...
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Comparing the Use of Centers for Disease Control and Prevention and World Health Organization Growth Charts in Children with Cystic Fibrosis through 2 Years of Age.
Zhang Zhumin et al. The Journal of pediatrics 2015 Nov 167(5) 1089-95 - Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.
Ciafaloni Emma et al. Journal of pediatric rehabilitation medicine 2016 Feb 9(1) 5-11 - Toward understanding family-related characteristics of young adults with sickle-cell disease or sickle-cell trait in the USA.
Hershberger Patricia E et al. Journal of clinical nursing 2016 Mar - Defining Sickle Cell Disease Mortality Using a Population-Based Surveillance System, 2004 through 2008.
Paulukonis Susan T et al. Public health reports (Washington, D.C. : 1974) 131(2) 367-75 - Family Communication and Cascade Testing for Fragile X Syndrome.
Raspa Melissa et al. Journal of genetic counseling 2016 Mar - Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen Christina M et al. Human genetics 2016 Mar
Cancer
- Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol.
Taylor Natalie et al. BMC health services research 2016 16(1) 89 - Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry.
Vasen Hans F A et al. Familial cancer 2016 Mar - Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany.
Vetter Lisa et al. Breast cancer research and treatment 2016 Mar - Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer.
Wang Sophie R et al. The Journal of molecular diagnostics : JMD 2016 Mar - Risk of Colorectal Neoplasia in Individuals With Self-Reported Family History: A Prospective Colonoscopy Study from 16 Asia-Pacific Regions.
Wong Martin C S et al. The American journal of gastroenterology 2016 Mar - Patient preferences regarding incidental genomic findings discovered during tumor profiling.
Yushak Melinda L et al. Cancer 2016 Mar - The Self-Reported Use of Immunostains and Cytogenetic Testing in the Diagnosis of Melanoma by Practicing U.S. Pathologists of 10 Selected States.
Zhao Ge et al. Journal of cutaneous pathology 2016 Mar - Prospective Validation of a 21-Gene Expression Assay in Breast Cancer.
Sparano Joseph A et al. The New England journal of medicine 2015 Nov 373(21) 2005-14 - Genetic counseling and cascade genetic testing in Lynch syndrome.
Hampel Heather et al. Familial cancer 2016 Mar - Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.
Jacobs Aryana S et al. Familial cancer 2016 Mar - ReCAP: Oncologists' Selection of Genetic and Molecular Testing in the Evolving Landscape of Stage II Colorectal Cancer.
Parikh Aparna R et al. Journal of oncology practice / American Society of Clinical Oncology 2016 Mar 12(3) 259-60 - Family history in breast cancer in São Luís, Maranhão, Brazil.
Ribeiro Maria Hilda Araújo et al. BMC research notes 2016 9(1) 155 - Should I Perform Genetic Testing? A Qualitative Look into the Decision Making Considerations of Religious Israeli Undergraduate Students.
Siani Merav et al. Journal of genetic counseling 2016 Mar - CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.
Ahadova Aysel et al. Familial cancer 2016 Mar
Chronic Diseases
- The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.
Teixeira Emerência et al. Patient education and counseling 2014 Jul 96(1) 86-92 - Clinical and genetic data of Huntington disease in Moroccan patients.
Bouhouche Ahmed et al. African health sciences 2015 Dec 15(4) 1232-8 - Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Koenig Mary Kay et al. JAMA neurology 2016 Mar
Ethics, Policy and Law
- FDA oversight of laboratory-developed tests will facilitate adoption of pharmacogenetic testing into routine clinical care.
Hillebrenner E et al. Journal of clinical pharmacology 2015 Jul 55(7) 728-30 - Data security in genomics: A review of Australian privacy requirements and their relation to cryptography in data storage.
Schlosberg Arran et al. Journal of pathology informatics 2016 76
Genomics in Practice
- The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis.
Hollands Gareth J et al. BMJ (Clinical research ed.) 2016 352i1102 - Precision medicine: opportunities, possibilities, and challenges for patients and providers.
Adams Samantha A et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar - Challenges and Opportunities for Genomics Education: Insights from an Institute of Medicine Roundtable Activity.
Dougherty Michael J et al. The Journal of continuing education in the health professions 2016 36(1) 82-5 - Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlases.
Koretzky Maya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar - Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).
Merino-Martinez Roxana et al. Biopreservation and biobanking 2016 Mar - Limited resources of genome sequencing in developing countries: Challenges and solutions
Helmy M, et al. Applied & Translational Genomics 2016 Mar 10 - Translating translational medicine into global health equity: What is needed?
Carol Isaacson Barash Applied & Translational Genomics 2016 Mar 10 - The Evolving Role of the Laboratory Professional in the Age of Genome Sequencing: A Vision of the Association for Molecular Pathology.
Schrijver Iris et al. The Journal of molecular diagnostics : JMD 2015 Jul 17(4) 335-8
Cardiovascular Diseases
- Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).
de Ferranti Sarah D et al. Circulation 2016 Mar 133(11) 1067-72 - Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association.
Hall Jennifer L et al. Circulation. Cardiovascular genetics 2016 Mar - Knowing the Prevalence of Familial Hypercholesterolemia Matters
Goldberg AC, et al. Circulation. 2016; 133: 1054-1057
Newborn Screening
- Newborn screening for sickling and other haemoglobin disorders using tandem mass spectrometry: A pilot study of methodology in laboratories in England.
Daniel Yvonne A et al. Journal of medical screening 2016 Mar - A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola.
McGann Patrick T et al. The Journal of pediatrics 2015 Dec 167(6) 1314-9
News/Reviews/Commentaries
- Can’t figure out genetics? Here’s a handy guide …
by Robin McKie, the Guardian, March 12, 2016 - Frequent Incidence of Familial Hypercholesterolemia Increases Heart Disease Risk,
Cardiology Advisor, March 16, 2016 - Data integration and patient voice key to personalised medicine in the NHS,
PHG Foundation, March 17, 2016 - The Limits of Personalized Medicine,
by Timothy Caulfield, the Atlantic, March 16, 2016 - Family struggles with genetic testing for Alzheimer's,
by Whitney Wild, 9News, March 13, 2016 - Loss-of-function variants — not always what they seem
Burgess DJ. Nature Reviews Genetics (2016) March 14 - News Feature: Genetic mutations you want.
Williams Sarah C P Proceedings of the National Academy of Sciences of the United States of America 2016 3 0. (10) 2554-7. - Precision medicine requires reliable genome sequencing,
by Rachel Goldfeder, BioMed Central, March 7, 2016 - On epigenetics: We are not just our DNA,
Student PLoS Blogs, March 11, 2016 - When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance,
by Gina Kolata, New York Times, March 11, 2016 - Should You Get Paid For Your DNA?
By Christina Farr, Fast Company, March 12, 2016 - What You Need To Know About Your Family History,
by Michelle Money, Good4Utah, March 14, 2016 - Confusion In The Age Of Genetic Information,
by Larry Husten, Cardio Brief, March 15, 2016 - Need Help Interpreting Direct-To-Consumer DNA Test Results? Ask a Genetic Counselor,
by Ricki Lewis, DNA Science Blog, March 10, 2016 - Daughter shares the same Huntington’s disease gene which killed her late father,
by Jane Hansen, the Daily Telegraph, March 12, 2016 - Contextual Genomics, Personalized Medicine Initiative Begin Tumor Profiling Study,
Genome Web, March 14, 2016 [by free subscription only] - Gene intelligence,
Nature News, March 9, 2016 - After Angry Moms Fault Counseling, Genetics Society Cites Its Ethics,
by Beth Daley, WGBH, March 11, 2016 - The Paradox of Precision Medicine,
by Jeneen Interlandi, Scientific American, April 1, 2016 - Scientists Identify Genetic Cause of Neurological Disease,
Scicasts, March 15, 2016 - Genomic Profiling of DCIS Is Ready for Prime Time,
by Jason M. Broderick, OncLive, March 13, 2016 - The Government seem more interested in our genes than our voices,
Edward Hockings and Lewis Coyne, the Guardian, March 15, 2016 - Bad Luck Or Bad Genes? Dealing With BRCA And 'A Cancer In The Family',
NPR, March 14, 2016 - Genetic Testing Needs To Get Better, And The FDA Wants To Help,
by Sean Captain, Fast Company, March 10, 2016 - Getting Past the "Shotgun" Approach to Treating Mental Illness,
by Daniel Barron, Scientific American, March 10, 2016
CDC-Authored Genomics Publications
- Whole-Genome Sequencing to Determine Origin of Multinational Outbreak of Sarocladium kiliense Bloodstream Infections.
Etienne Kizee A, Roe Chandler C, Smith Rachel M, Vallabhaneni Snigdha, Duarte Carolina, Escadon Patricia, Castaneda Elizabeth, Gomez Beatriz L, de Bedout Catalina, López Luisa F, Salas Valentina, Hederra Luz Maria, Fernandez Jorge, Pidal Paola, Hormazabel Juan Carlos, Otaiza Fernando, Vannberg Fredrik O, Gillece John, Lemmer Darrin, Driebe Elizabeth M, Englethaler David M, Litvintseva Anastasia P Emerging infectious diseases 2016 3 0. (3) . - Phylogenetic Analysis of Invasive Serotype 1 Pneumococcus in South Africa, 1989-2013.
du Plessis Mignon, Allam Mushal, Tempia Stefano, Wolter Nicole, de Gouveia Linda, Mollendorf Claire von, Jolley Keith A, Mbelle Nontombi, Wadula Jeannette, Cornick Jennifer E, Everett Dean B, McGee Lesley, Breiman Robert F, Gladstone Rebecca A, Bentley Stephen D, Klugman Keith P, von Gottberg Anne Journal of clinical microbiology 2016 3 0. . - Genomic Sequence of the First Porcine Rotavirus Group H Strain in the United States.
Hull Jennifer J, Marthaler Douglas, Rossow Stephanie, Ng Terry Fei Fan, Montmayeur Anna M, Magana Laura, Moon Sung-Sil, Jiang Baoming Genome announcements 2016 0 0. (2) . - Use of Malachite Green-Loop Mediated Isothermal Amplification for Detection of Plasmodium spp. Parasites.
Lucchi Naomi W, Ljolje Dragan, Silva-Flannery Luciana, Udhayakumar Venkatachalam PloS one 2016 0 0. (3) e0151437. - Cardiac Tropism of Borrelia burgdorferi: An Autopsy Study of Sudden Cardiac Death Associated with Lyme Carditis.
Muehlenbachs Atis, Bollweg Brigid C, Schulz Thadeus J, Forrester Joseph D, DeLeon Carnes Marlene, Molins Claudia, Ray Gregory S, Cummings Peter M, Ritter Jana M, Blau Dianna M, Andrew Thomas A, Prial Margaret, Ng Dianna L, Prahlow Joseph A, Sanders Jeanine H, Shieh Wun Ju, Paddock Christopher D, Schriefer Martin E, Mead Paul, Zaki Sherif R The American journal of pathology 2016 3 0. . - Prevalence and dynamics of the K65R drug resistance mutation in HIV-1-infected infants exposed to maternal therapy with lamivudine, zidovudine and either nevirapine or nelfinavir in breast milk.
Inzaule Seth C, Weidle Paul J, Yang Chunfu, Ndiege Kenneth, Hamers Raph L, Rinke de Wit Tobias F, Thomas Timothy, Zeh Clement The Journal of antimicrobial chemotherapy 2016 3 0. . - Still Searching for a Suitable Molecular Test to Detect Hidden Plasmodium Infection: A Proposal for Blood Donor Screening in Brazil.
Lima Giselle Fernandes Maciel de Castro, Lucchi Naomi W, Silva-Flannery Luciana, Macedo-de-Oliveira Alexandre, Hristov Angelica D, Inoue Juliana, Costa-Nascimento Maria de Jesus, Udhayakumar Venkatachalam, Di Santi Silvia M PloS one 2016 0 0. (3) e0150391.
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