ACTUALIZACIÓN MÉDICO-CONTINUADA EN ENFERMEDADES EPIDEMIOLÓGICAMENTE "NO COMUNICABLES" ► NUEVO CAPÍTULO MÉDICO ► Human Genomics across the Lifespan || Public Health Genomics Knowledge Base (v1.0) 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...
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
- Autism genetic testing information needs among parents of affected children: A qualitative study.
Li Ming et al. Patient education and counseling 2016 Jan
Cancer
- Moving towards personalised therapy in head and neck squamous cell carcinoma through analysis of next generation sequencing data.
Giefing M et al. European journal of cancer (Oxford, England : 1990) 2016 Feb 55147-157 - Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
Daly Mary B et al. Journal of the National Comprehensive Cancer Network : JNCCN 2016 Feb 14(2) 153-62 - Modeling the dyadic effects of parenting, stress, and coping on parent-child communication in families tested for hereditary breast-ovarian cancer risk.
Hamilton Jada G et al. Familial cancer 2016 Feb - Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline.
Harris Lyndsay N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Feb - Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening.
Jenkins Mark A et al. Future oncology (London, England) 2016 Feb 12(4) 503-13 - Scenario drafting for early technology assessment of next generation sequencing in clinical oncology.
Joosten S E P et al. BMC cancer 2015 16(1) 66 - Targeted Screening With Combined Age- and Morphology-Based Criteria Enriches Detection of Lynch Syndrome in Endometrial Cancer.
Lin Douglas I et al. International journal of surgical pathology 2016 Feb - BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer
Rosenberg SM, et al. JAMA Oncol. 2016 Feb 11 - Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome and their Endoscopists from the Family Health Promotion Project.
Patel Swati G et al. The American journal of gastroenterology 2016 Feb - Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups.
Ramirez Amelie G et al. Journal of health disparities research and practice 2015 8(4) 124-135 - Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status.
Shah Payal D et al. Cancer 2016 Feb - Improving performance of multigene panels for genomic analysis of cancer predisposition.
Shirts Brian H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb - The Diagnostic Performance of Stool DNA Testing for Colorectal Cancer: A Systematic Review and Meta-Analysis.
Zhai Rong-Lin et al. Medicine 2016 Feb 95(5) e2129
Chronic Diseases
- What You Don't Know: Improving Family Health History Knowledge among Multigenerational Families of Mexican Origin.
Goergen Andrea F et al. Public health genomics 2016 Feb - Utilizing Genomics through Family Health History with the Theory of Planned Behavior: Prediction of Type 2 Diabetes Risk Factors and Preventive Behavior in an African American Population in Florida.
Seaborn Cynthia et al. Public health genomics 2016 Feb
Ethics, Policy and Law
- WHAT DNA CAN AND CANNOT SAY: PERSPECTIVES OF IMMIGRANT FAMILIES ABOUT THE USE OF GENETIC TESTING IN IMMIGRATION.
Barata Llilda P et al. Stanford law & policy review 26597-638 - GENETIC TECHNOLOGY REGULATION. Editing policy to fit the genome?
Isasi R et al. Science (New York, N.Y.) 2016 Jan 351(6271) 337-9 - International Charter of principles for sharing bio-specimens and data.
Mascalzoni Deborah et al. European journal of human genetics : EJHG 2015 Jun 23(6) 721-8 - Integrating Public Health and Deliberative Public Bioethics: Lessons from the Human Genome Project Ethical, Legal, and Social Implications Program.
Meagher Karen M et al. Public health reports (Washington, D.C. : 1974) 131(1) 44-51
Genomics in Practice
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl William A et al. Molecular genetics and metabolism 2016 Jan - Changes in Physical Activity Following a Genetic-Based Internet-Delivered Personalized Intervention: Randomized Controlled Trial (Food4Me).
Marsaux Cyril Fm et al. Journal of medical Internet research 2016 18(2) e30 - Building capacity for human genetics and genomics research in Trinidad and Tobago.
Roach Allana et al. Revista panamericana de salud pu´blica = Pan American journal of public health 2015 Nov 38(5) 425-30
Newborn Screening
- Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Bhattacharjee Arindam et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 May 17(5) 337-47 - The Impact of the Affordable Care Act on Funding for Newborn Screening Services.
Costich Julia F et al. Public health reports (Washington, D.C. : 1974) 131(1) 160-6 - The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 11(1) 12 - Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.
Lefterova Martina I et al. The Journal of molecular diagnostics : JMD 2016 Jan - TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
van der Spek Jet et al. Journal of clinical immunology 2015 May 35(4) 416-30
Reproductive Health
- "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
Archibald Alison D et al. Journal of community genetics 2016 Feb - The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee Wen-I et al. Annals of medicine 2016 Feb 1-8 - [Clinical implementation of non-invasive prenatal study for detecting aneuploidies by fetal DNA based on single nucleotide polymorphisms: two years in Mexico].
Sánchez-Usabiaga Rafael A et al. Ginecologi´a y obstetricia de Me´xico 2015 Apr 83(4) 220-31
Pharmacogenomics
- Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility.
Saldivar Juan-Sebastian et al. Pharmacogenomics and personalized medicine 2016 91-6
Tools and Databases
- ePIANNO: ePIgenomics ANNOtation tool.
Liu Chia-Hsin et al. PloS one 11(2) e0148321
News/Reviews/Commentaries
- Does genetic testing have a place in a healthcare and wellbeing strategy?
By Louise Fordham, Employee Benefits, February 10, 2016 - The Role of Genetics in Depression,
by Kathleen Hall, everyday Health, February 9, 2016 - In modern-day gold rush of genetic testing, profit placed above proof,
CBS News, February 10, 2016 - Rare Variant Studies of Common Disease,
by Dan Koboldt, Mass Genomics, February 8, 2016 - Providers see upside of precision medicine, aren't prepared to use it in patient care process,
by Alex DelVecchio, Search Health IT, February 2, 2016 - Personalized nutrition through big data.
McDonald Daniel, Glusman Gustavo, Price Nathan D Nature biotechnology 2016 2 0. (2) 152-4. - DNA Misfolding Revealed as Novel Oncogenic Mechanism,
by Amy Blum, NCI, February 1, 2016 - Heart disease: Know your family history, risk factors,
by Gale A. Mills, Bartlesville Examiner-Enterprise, February 4, 2016 - FDA to Finalize LDT Guidance Amid Uncertainty on Number of Genetic Tests Impacted,
by Turna Ray, Genome Web, February 4, 2016 - When Men Get Breast Cancer, They Enter A World Of Pink,
by Patti Neighmond, NPR, February 8, 2016 - Better Approaches to Patient Counseling of BRCA Gene Mutation Carriers Needed,
by Joyce Pagan, Oncology Nurse Advisor, February 4, 2016 - NIH researchers identify striking genomic signature shared by five types of cancer,
NIH, February 5, 2016 - Chronic traumatic encephalopathy,
Psychiatry Neuroimaging Laboratory - Insurer's approval of genetic testing for some cancers raises questions,
by Julie Appleby, USA Today, February 3, 2016 - Neanderthal DNA has subtle but significant impact on human traits
by David Salisbury, Vanderbilt University, February 11, 2016 - AliveAndKickn, a hereditary cancer foundation, announces the launch of The HEROIC Registry for Lynch Syndrome genetic mutations,
PR Newswire, February 9, 2016
Events
- Whole Genome Sequencing: Decoding the Language of Life and Health
Free Online Course - National DNA Day
NIH, April 25
CDC-Authored Genomics Publications
- Comparison of Phenotypic and Genotypic Approaches to Capsule Typing of Neisseria meningitidis by Use of Invasive and Carriage Isolate Collections.
Jones C Hal, Mohamed Naglaa, Rojas Eduardo, Andrew Lubomira, Hoyos Johanna, Hawkins Julio C, McNeil Lisa K, Jiang Qin, Mayer Leonard W, Wang Xin, Gilca Rodica, De Wals Philippe, Pedneault Louise, Eiden Joseph, Jansen Kathrin U, Anderson Annaliesa S Journal of clinical microbiology 2016 1 0. (1) 25-34. - Gene expression profiling of rubella virus infected primary endothelial cells of fetal and adult origin.
Geyer Henriette, Bauer Michael, Neumann Jennifer, Lüdde Amy, Rennert Paul, Friedrich Nicole, Claus Claudia, Perelygina Ludmilla, Mankertz Annette Virology journal 2016 0 0. (1) 21. - Complete Closed Genome Sequences of Salmonella enterica subsp. enterica Serotypes Anatum, Montevideo, Typhimurium, and Newport, Isolated from Beef, Cattle, and Humans.
Harhay Dayna M, Bono James L, Smith Timothy P L, Fields Patricia I, Dinsmore Blake A, Santovenia Monica, Kelley Christy M, Wang Rong, Harhay Gregory P Genome announcements 2016 0 0. (1) .
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