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) | 26 de MAYO 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Guidelines on neonatal screening and painful vaso-occlusive crisis in sickle cell disease: Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular: Project guidelines: Associação Médica Brasileira - 2016.
Braga Josefina Aparecida Pellegrini et al. Revista brasileira de hematologia e hemoterapia 38(2) 147-57 - The emerging role of viral vectors as vehicles for DMD gene editing
I Maggio et al, May 23, 2016 - Practitioner Review: Treatments for Tourette syndrome in children and young people - a systematic review.
Whittington Craig et al. Journal of child psychology and psychiatry, and allied disciplines 2016 May - Why Do Parents Want to Know their Child's Carrier Status? A Qualitative Study.
Vears Danya F et al. Journal of genetic counseling 2016 May - A Review and Update on Tourette Syndrome: Where Is the Field Headed?
Gunduz Aysegul et al. Current neurology and neuroscience reports 2016 Apr 16(4) 37 - Hemophilia Therapy — Navigating Speed Bumps on the Innovation Highway
D DiMichele, NEJM, May 25, 2016 - Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Berry Susan A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May - Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
Hayeems Robin Z et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1135-41 - Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.
Kobayashi Michio et al. Rinsho shinkeigaku = Clinical neurology 2016 May
Cancer
- Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to know.
Schuurman Agnes G et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1124-8 - Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.
Soura Efthymia et al. Journal of the American Academy of Dermatology 2016 Mar 74(3) 395-407 - New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.
Plaskocinska Inga et al. Journal of medical genetics 2016 May - Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK.
Buczacki Sja et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2016 May - Evaluation of BRCAPRO Risk Assessment Model in Patients with Ductal Carcinoma In situ Who Underwent Clinical BRCA Genetic Testing.
Elsayegh Nisreen et al. Frontiers in genetics 2016 771 - Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital.
Palmero Edenir I et al. Genetics and molecular biology 2016 May - Fertility after young-onset colorectal cancer: a study of subjects with Lynch syndrome.
Stupart D et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2015 Sep 17(9) 787-93 - Familial skin cancer syndromes: Increased melanoma risk.
Ransohoff Katherine J et al. Journal of the American Academy of Dermatology 2016 Mar 74(3) 423-34 - Why We Should Think Twice About Giving Genetic Tests to Our Kids
M White, Pacific Standard, May 2016 - 'Sunscreen' gene may help protect against skin cancer
Ecancer news, May 19, 2016 - Health Care Segregation, Physician Recommendation, and Racial Disparities in BRCA1/2 Testing Among Women With Breast Cancer.
McCarthy Anne Marie et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 May - Adding genetic risk score to family history identifies twice as many high-risk men for prostate cancer: Results from the prostate cancer prevention trial.
Chen Haitao et al. The Prostate 2016 May - Recommendations for Genetic Testing to Reduce the Incidence of Anthracycline-induced Cardiotoxicity.
Aminkeng Folefac et al. British journal of clinical pharmacology 2016 May - Decision-Making in Breast Cancer Surgery: Where Do Patients Go for Information?
Schmidt Hank et al. The American surgeon 2016 May 82(5) 397-402 - Family history of venous thromboembolism and risk of hospitalized thromboembolism in cancer patients: A nationwide family study.
Zöller Bengt et al. Thrombosis research 2015 Sep 136(3) 573-81 - Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
DiNardo Courtney D et al. Clinical lymphoma, myeloma & leukemia 2016 Apr - Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review.
Arts-de Jong Marieke et al. European journal of cancer (Oxford, England : 1990) 2016 May 61137-145 - The Quest for a Simple Cancer Test
J Perkle, NOvaNExt, PBS, May 19, 2016
Chronic Diseases
- Clinical utility gene card for: Alport syndrome - update 2014.
Hertz Jens Michael et al. European journal of human genetics : EJHG 2015 Sep 23(9) - Multiple sclerosis: genetics, biomarkers, treatments.
Axisa Pierre-Paul et al. Current opinion in neurology 2016 Jun 29(3) 345-53 - 10 years later: assessing the impact of public health efforts on the collection of family health history.
Welch Brandon M et al. American journal of medical genetics. Part A 2015 Sep 167A(9) 2026-33 - Toward precision medicine and health: Opportunities and challenges in allergic diseases.
Galli Stephen Joseph et al. The Journal of allergy and clinical immunology 2016 May 137(5) 1289-300 - Presymptomatic ALS genetic counseling and testing: Experience and recommendations.
Benatar Michael et al. Neurology 2016 May - From genetic associations to functional studies in multiple sclerosis.
Bos S D et al. European journal of neurology 2016 May 23(5) 847-53 - Clinical utility gene card for: Trimethylaminuria - update 2014.
Shephard Elizabeth A et al. European journal of human genetics : EJHG 2015 Sep 23(9) - Poverty linked to epigenetic changes and mental illness
S Reardon, Nature News, May 24, 2016 - Genetic Biomarker Search Could Personalize Medicine for Arthritis Sufferers
GEN, Clinical Omics, May 2016
Ethics, Policy and Law
- After a prominent gene-testing firm declined to give patients their complete data, ACLU filed a legal complaint,
by Jennifer Couzin-Frankel, Science Magazine, May 19, 2016 - Myriad Genetics embroiled in breast-cancer data fight ? again,
by Erika Check Hayden, Nature News, May 20, 2016 - Patients challenge Myriad Genetics for access to their gene data,
by Leah Samuel, STAT, May 19, 2016 - Regulations Under the Americans With Disabilities Act; Genetic Information Nondiscrimination Act. Final rule.
et al. Federal register 2016 May 81(95) 31125-43 - Genetic Information Nondiscrimination Act. Final rule.
et al. Federal register 2016 May 81(95) 31143-59
Genomics in Practice
- Confronting the Care Delivery Challenges Arising from Precision Medicine.
Kohn Elise C et al. Frontiers in oncology 2016 6106 - IBM Watson: How Cognitive Computing Can Be Applied to Big Data Challenges in Life Sciences Research.
Chen Ying et al. Clinical therapeutics 2016 Apr 38(4) 688-701 - Review of Developments in Electronic, Clinical Data Collection, and Documentation Systems over the Last Decade - Are We Ready for Big Data in Routine Health Care?
Kessel Kerstin A et al. Frontiers in oncology 2016 675 - H2020 and beyond: skip discrepancy between theory and practice of Personalized Medicine. A position paper by the Italian Society of Personalized Medicine.
Borro M et al. Current pharmaceutical biotechnology 2016 May - Data, Data Everywhere, but Access Remains a Big Issue for Researchers: A Review of Access Policies for Publicly-Funded Patient-Level Health Care Data in the United States.
Doshi Jalpa A et al. EGEMS (Washington, DC) 2016 4(2) 1204 - What if?
Sue Desmond-Hellman, CEO Gates Foundation, May 2016 - Dr. Susan Desmond-Hellmann, Guide of the Gates Foundation
New York Times, May 23, 2016 - Why Public Health Is Critical in a Precision Medicine World
Ellen Clayton video presentation, Boston University, 2015 - Using Bigger Data Better to Improve Population Health
Stefano M. Bertozzi Video presentation, Boston University, 2016 - From Competition to Collaboration: precisionFDA Challenges
FDA Voice, May 19, 2016 - A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine.
Evans James P et al. EGEMS (Washington, DC) 2016 4(1) 1198 - Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation.
Nicholls Stuart G et al. BMC medical genomics 2016 9(1) 25 - Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Vrijenhoek Terry et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1142-50 - Understanding Genomic Knowledge in Rural Appalachia: The West Virginia Genome Community Project.
Mallow Jennifer A et al. Online journal of rural nursing and health care : the official journal of the Rural Nurse Organization 16(1) 3-22
Cardiovascular Diseases
- Protective gene offers hope for next blockbuster heart drug
Rare genetic variant in Icelanders lowers risk of heart attack by more than one-third. By E Callaway. Nature News, May 19, 2016 - Familial hypercholesterolemia: cholesterol efflux and coronary disease.
Versmissen Jorie et al. European journal of clinical investigation 2016 May - Familial hypercholesterolemia presents 'terrible paradox',
by Joshua W. Knowles, Healio, May 22, 2016 - Predictors of cardiovascular events after one year of molecular screening for Familial hypercholesterolemia.
Silva Pãmela R S et al. Atherosclerosis 2016 May 250144-150
Newborn Screening
- Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.
Kemper E A et al. JIMD reports 2016 May - Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas Danieli B et al. PloS one 2016 11(5) e0155624 - Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.
Singh Rani H et al. Molecular genetics and metabolism 2016 Apr
Reproductive Health
- Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing.
Werner-Lin Allison et al. Journal of genetic counseling 2016 May
Pharmacogenomics
- Implementing Pharmacogenomics at Your Institution: Establishment and Overcoming Implementation Challenges.
Arwood Meghan J et al. Clinical and translational science 2016 May - Epigenetic drugs: from chemistry via biology to medicine and back
L Altucci et al, Clinical EPigenetics, May 23, 2016 - Thiopurine S-methyltransferase testing for averting drug toxicity: a meta-analysis of diagnostic test accuracy.
Zur R M et al. The pharmacogenomics journal 2016 May
Tools and Databases
- Use of a Point-of-Care Tool to Improve Nurse Practitioner BRCA Knowledge.
Smania Mary et al. Clinical journal of oncology nursing 2016 Jun 20(3) 327-31 - DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.
Birch Patricia et al. Journal of genetic counseling 2016 May
News/Reviews/Commentaries
- The controversy over a "secret" meeting on synthetic human genomes?
By Aaron Dy, PLOS Blogs, May 19, 2016 - Unlocking the genetic code of cancer,
by Julie Landry Laviolette, Miami Herald, May 20, 2016 - DNA Sequencing Costs: Data,
NHGRI, May 18, 2016 - 7 things to consider before buying one of those kits that lets you test your genes,
by Erin Brodin, Business Insider, May 23, 2016
CDC-Authored Genomics Publications
- MPTP Neurotoxicity is Highly Concordant Between the Sexes Among BXD Recombinant Inbred Mouse Strains.
Alam Gelareh, Miller Diane B, O'Callaghan James P, Lu Lu, Williams Robert W, Jones Byron C Neurotoxicology 2016 5 0. . - Plasmodium vivax malaria recurrence after radical treatment with chloroquine-primaquine standard regimen in Turbo, Colombia: Results from a prospective study.
Zuluaga-Idárraga Lina, Blair Silvia, Akinyi Okoth Sheila, Udhayakumar Venkatachalam, Marcet Paula, Escalante Ananias A, Alexander Neal, Rojas Carlos Antimicrobial agents and chemotherapy 2016 5 0. . - Complete Sequence of the Smallest Polyomavirus Genome, Giant Guitarfish (Rhynchobatus djiddensis) Polyomavirus 1.
Dill Jennifer A, Ng Terry F F, Camus Alvin C Genome announcements 2016 0 0. (3) . - Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.
Hu Yi-Juan, Liao Peizhou, Johnston H Richard, Allen Andrew S, Satten Glen A PLoS genetics 2016 5 0. (5) e1006040. - Validation of a standardized extraction method for formalin-fixed paraffin-embedded tissue samples.
Lagheden Camilla, Eklund Carina, Kleppe Sara Nordqvist, Unger Elizabeth R, Dillner Joakim, Sundström Karin Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 2016 4 0. 36-39. - Enhanced genetic characterization of influenza A(H3N2) viruses and vaccine effectiveness by genetic group, 2014-2015.
Flannery Brendan, Zimmerman Richard K, Gubareva Larisa V, Garten Rebecca J, Chung Jessie R, Nowalk Mary Patricia, Jackson Michael L, Jackson Lisa A, Monto Arnold S, Ohmit Suzanne E, Belongia Edward A, McLean Huong Q, Gaglani Manjusha, Piedra Pedro A, Mishin Vasiliy P, Chesnokov Anton P, Spencer Sarah, Thaker Swathi N, Barnes John R, Foust Angie, Sessions Wendy, Xu Xiyan, Katz Jacqueline, Fry Alicia M The Journal of infectious diseases 2016 5 0. . - 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.
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