Health Impact Weekly Scan
ACTUALIZACIÓN MÉDICO-CONTINUADA EN ENFERMEDADES EPIDEMIOLÓGICAMENTE NO COMUNICABLES ► NUEVO CAPÍTULO MÉDICO ► Human Genomics across the Lifespan || 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.
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...
Human Genomics across the Lifespan
Cancer
- Clinical And Budget Impact Of Using A Molecular Test To Detect Kras Mutations In Metastatic Colorectal Cancer Patients In Denmark.
Cheng I et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A349 - A Cost-Effectiveness Analysis Of A Genomic Test Compared To Standard Of Care In Breast Cancer Patients In France.
Dorey J et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A457 - Cost-Effectiveness Analysis of Testing for Brca1 and Brca2 Mutations In Women Diagnosed With Ovarian Cancer and Their Female First- And Second Degree Relatives Using A Discrete Event Simulation: A Uk Health Service Perspective.
Eccleston A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A361 - Economic Analysis Of Epicup, An Epigenetic Test To Predict The Tissue Of Origin In Cancer Of Unknown Primary Site, The Usa Payors Perspective.
Gracia A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A356 - Economic Analysis Of Epicup, An Epigenetic Test To Predict The Tissue Of Origin In Cancer Of Unknown Primary Site, From The Spanish Nhs Perspective.
Gracia A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A356-7 - Comparison Of Kras Tested And Not-Tested Metastatic Colorectal Cancer (Mcrc) Patient Cohorts In Europe.
Narayanan S et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A365 - Economical and Organizational Impact of Adopting Different in Situ Hybridization Technologies to Assess HER2 Gene Amplification in Breast Cancer.
Paolini D et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A361-2 - From prospective biobanking to precision medicine: BIO-RAIDs - an EU study protocol in cervical cancer.
Ngo Charlotte et al. BMC cancer 2015 15842 - Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation.
Pelletier Sylvie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov - Towards personalized screening: Cumulative risk of breast cancer screening outcomes in women with and without a first-degree relative with a history of breast cancer.
Ripping T M et al. International journal of cancer. Journal international du cancer 2015 Nov - High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.
Sie Aisha S et al. Journal of genetic counseling 2015 Nov - Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families.
Singer C F et al. Wiener klinische Wochenschrift 2015 Nov - Clinical And Economic Impact Of The Implementation Of Hpv 16/18 Genotyping Test For Cervical Cancer Screening In Mexican Healthcare System.
Picó J et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A344-5 - Budget Impact Analysis Of High-Risk Hpv Dna (Hrhpv) Test With 16/18 Genotyping As A Primary Screening Method For Cervical Cancer In Greece.
Skroumpelos A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A349 - Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings.
Blazer Kathleen R et al. Genetic testing and molecular biomarkers 2015 Nov - Next-Generation Sequencing in Oncology in the Era of Precision Medicine.
Blumenthal Gideon M et al. JAMA oncology 2015 Nov 1-2
Chronic Diseases
- Communicating the promise for ocular gene therapies: challenges and recommendations.
Benjaminy Shelly et al. American journal of ophthalmology 2015 Sep 160(3) 408-415.e2 - Review of Commercially Available Epilepsy Genetic Panels.
Chambers Chelsea et al. Journal of genetic counseling 2015 Nov
Ethics, Policy and Law
- FDA Sends DNA4Life Untitled Letter Regarding Pharmacogenetic Report Product,
Genome Web, November 9, 2015 [by free subscription only] - Direct-to-consumer genomics on the scales of autonomy.
Vayena Effy et al. Journal of medical ethics 2015 Apr 41(4) 310-4
Genomics in Practice
- Precision Medicine in the Age of Big Data: The Present and Future Role of Large Scale Unbiased Sequencing in Drug Discovery and Development.
Vicini Paolo et al. Clinical pharmacology and therapeutics 2015 Nov - The promise and peril of genomic screening in the general population.
Adams Michael C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov - Predictive or not predictive: understanding the mixed messages from the patient's DNA sequence
Janssens AC, et al. Journal of Clinical Nursing 2015 Nov 6 - Precision Public Health for the Era of Precision Medicine.
Khoury Muin J et al. American journal of preventive medicine 2015 Nov - Genomics is changing personal healthcare and medicine: the dawn of iPH (individualized preventive healthcare).
Mehrian-Shai Ruty et al. Human genomics 2015 9(1) 29 - Establshing The Cost-Effectiveness of Genomic-Based Diagnostic Tests: Are Current Methods Sufficient and Appropriate?
Spackman E et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A727 - A Next-Generation Framework: Deciding On The Role Of Costs In The Clinical Use Of Targeted Gene Panels, Exome And Genome Sequencing.
van Nimwegen K et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A352 - Information and Communication Technologies, Genes, and Peer-Production of Knowledge to Empower Citizens' Health.
Biggeri Annibale et al. Science and engineering ethics 2015 Nov - Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Corpas Manuel et al. BMC genomics 2015 16(1) 910
Cardiovascular Diseases
- NSGC Cardiovascular Genetics Pocket Guide,
National Society of Genetic Counselors - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Association and American College of Cardiology.
Maron Barry J et al. Journal of the American College of Cardiology 2015 Oct - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 4: Congenital Heart Disease: A Scientific Statement From the American Heart Association and American College of Cardiology.
Van Hare George F et al. Journal of the American College of Cardiology 2015 Oct - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 9: Arrhythmias and Conduction Defects: A Scientific Statement From the American Heart Association and American College of Cardiology.
Zipes Douglas P et al. Journal of the American College of Cardiology 2015 Oct - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 10: The Cardiac Channelopathies: A Scientific Statement From the American Heart Association and American College of Cardiology.
Ackerman Michael J et al. Circulation 2015 Nov - Clinical Characteristics, Lipid Treatment and Goal Attainment in a Familial Hypercholesterolemia Cohort in The Netherlands: a Cross Sectional Study.
Kuiper J G et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A379 - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 14: Sickle Cell Trait: A Scientific Statement From the American Heart Association and American College of Cardiology.
Maron Barry J et al. Circulation 2015 Nov - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 2: Preparticipation Screening for Cardiovascular Disease in Competitive Athletes: A Scientific Statement From the American Heart Association and American College of Cardiology.
Maron Barry J et al. Circulation 2015 Nov - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Preamble, Principles, and General Considerations: A Scientific Statement From the American Heart Association and American College of Cardiology.
Maron Barry J et al. Journal of the American College of Cardiology 2015 Oct - The Magnitude of Increased Cardiovascular (Cv) Risk Associated with Familial Hypercholesterolemia (Fh) for use in Economic Analyses.
Wong B et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A340 - Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 7: Aortic Diseases, Including Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology.
Braverman Alan C et al. Journal of the American College of Cardiology 2015 Oct - Factors influencing uptake of familial long QT syndrome genetic testing.
Burns Charlotte et al. American journal of medical genetics. Part A 2015 Nov
Newborn Screening
- Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening.
Al-Sulaiman Ayman et al. BioMed research international 2015 2015718674 - Some states still won't disclose newborn testing data,
by Ellen Gabler, Milwaukee Wisconsin Journal Sentinel, November 7, 2015 - Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.
Viall Sarah et al. Molecular genetics and metabolism 2015 Nov
Reproductive Health
- Costs And Cost-Effectiveness Of Non-Invasive Prenatal Diagnosis (Nipt) For Detection Of Trisomy 21 In Sweden.
Davidson T et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A352
Pharmacogenomics
- DGIdb 2.0: mining clinically relevant drug-gene interactions.
Wagner Alex H et al. Nucleic acids research 2015 Nov - The Economic Aspect Of Warfarin Pharmacogenetics Introduction Into Health System.
Janzic A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A402 - Economic Evaluation Of A Pharmacogenomic Test For Statin-Induced Myopathy In Cardiovascular High-Risk Patients Initiating A Statin.
Mitchell D et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2015 Nov 18(7) A396
Tools and Databases
- The Cancer Genome Atlas Clinical Explorer: a web and mobile interface for identifying clinical-genomic driver associations.
Lee HoJoon et al. Genome medicine 2015 7(1) 112
News/Reviews/Commentaries
- Explainer: what has been holding gene therapy back?
the Conversation, November 11, 2015 - FDA Warns Three Companies Over DTC Genetic Tests,
by Michael Mezher, RAPS, November 9, 2015 - The Gene Hackers, by Michael Specter,
the New Yorker, November 16, 2015 Issue - The dark side of the genome – does it matter?
Genomics Education Programme, November 6, 2015 - Big Data Study Reveals Possible Subtypes of Type 2 Diabetes
by Dr. Francis Collins, NIH Director's Blog, November 10, 2015 - Cancer Drivers, Protein Complex Prediction, and Crawling and Gliding Cells: the PLOS Comp Biol October Issue,
PLoS Biologue, November 5, 2015 - 7 Things You Should Know About The Future Of Your Genetic Data,
by Alexander Howard, Huffington Post, November 6, 2015 - Direct-to-consumer company tests FDA's resolve on gene testing,
by Julie Steenhuysen, Reuters, November 7, 2015 - Leukaemia success heralds wave of gene-editing therapies,
by Sara Reardon, Nature News, November 5, 2015 - The Hottest New Cancer Drugs Depend on Gut Microbes,
by Ed Yong, the Atlantic, November 5, 2015 - Gene therapies offer dramatic promise but shocking costs
by Carolyn Y. Johnson and Brady Dennis, the Washington Post, November 11, 2015 - Genetic Testing Provides Personal Empowerment,
by Susan Estabrooks Hahn, National Society of Genetic Counselors, November 4, 2015 - Limiting Lynch Syndrome Screening in Endometrial Cancers May Be Harmful,
by Lourdes Briz, Cancer Therapy Advisor, November 10, 2015 - CRISPR: A path through the thicket,
Nature News, November 10, 2015 - AHA: Giving Genetic Risk Info Helps Rein in LDL,
Medpage Today, November 9, 2015 - AACR launches data-sharing project for cancer genomic research,
by Susan D. Hall, Fierce Health IT, November 9, 2015 - I Am Paying for Your Expensive Medicine,
by Ezekiel J. Emanuel, New York Times, November 7, 2015 - First precision medicine trial in cancer prevention,
by Rebecca Burbidge, PHG Foundation, November 6, 2015 - Reproducibility and reliability of biomedical research: improving research practice,
the Academy of Medical Sciences, October 2015 - 20 Health Mistakes to Stop Making Before You Turn 40,
by Karen Pallarito, Time, October 16, 2015 - Putting personalized medicine to the test,
University of Alabama at Birmingham, You Tube, March 11, 2015 - US FDA sends letter to DNA4Life over consumer gene tests,
Reuters, November 10, 2015 - Geneticist Craig Venter helped sequence the human genome. Now he wants yours,
by Carl Zimmer, Stat News, November 5, 2015
CDC-Authored Genomics Publications
- Host Genetic Susceptibility to Enteric Viruses: A Systematic Review and Metaanalysis.
Kambhampati Anita, Payne Daniel C, Costantini Veronica, Lopman Benjamin A Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2015 10 0. . - G2P[4]-RotaTeq Reassortant Rotavirus in Vaccinated Child, United States.
Roy Sunando, Rungsrisuriyachai Kunchala, Esona Mathew D, Boom Julie A, Sahni Leila C, Rench Marcia A, Baker Carol J, Wikswo Mary E, Payne Daniel C, Parashar Umesh D, Bowen Michael D Emerging infectious diseases 2015 11 0. (11) 2103-4. - Epidemiologic, Virologic, and Host Genetic Factors of Norovirus Outbreaks in Long-term Care Facilities.
Costantini Veronica P, Cooper Emilie M, Hardaker Hope L, Lee Lore E, Bierhoff Marieke, Biggs Christianne, Cieslak Paul R, Hall Aron J, Vinjé Jan Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2015 10 0. . - Precision Public Health for the Era of Precision Medicine.
Khoury Muin J, Iademarco Michael F, Riley William T American journal of preventive medicine 2015 11 0. . - Real-Time Polymerase Chain Reaction Detection of Angiostrongylus cantonensis DNA in Cerebrospinal Fluid from Patients with Eosinophilic Meningitis.
Qvarnstrom Yvonne, Xayavong Maniphet, Aramburu da Silva Ana Cristina, Park Sarah Y, Whelen A Christian, Calimlim Precilia S, Sciulli Rebecca H, Honda Stacey A A, Higa Karen, Kitsutani Paul, Chea Nora, Heng Seng, Johnson Stuart, Graeff-Teixeira Carlos, Fox LeAnne M, da Silva Alexandre J The American journal of tropical medicine and hygiene 2015 11 0. . - Malignant Transformation of Hymenolepis nana in a Human Host.
Muehlenbachs Atis, Bhatnagar Julu, Agudelo Carlos A, Hidron Alicia, Eberhard Mark L, Mathison Blaine A, Frace Michael A, Ito Akira, Metcalfe Maureen G, Rollin Dominique C, Visvesvara Govinda S, Pham Cau D, Jones Tara L, Greer Patricia W, Vélez Hoyos Alejandro, Olson Peter D, Diazgranados Lucy R, Zaki Sherif R The New England journal of medicine 2015 11 0. (19) 1845-52. - Bacteria associated with Amblyomma cajennense tick eggs.
Machado-Ferreira Erik, Vizzoni Vinicius Figueiredo, Piesman Joseph, Gazeta Gilberto Salles, Soares Carlos Augusto Gomes Genetics and molecular biology 2015 11 0. . - Chronic Infection With Camelid Hepatitis E Virus in a Liver-transplant Recipient Who Regularly Consumes Camel Meat and Milk.
Lee Guan-Huei, Tan Boon-Huan, Teo Esmeralda Chi-Yuan, Lim Seng-Gee, Dan Yock-Young, Wee Aileen, Aw Pauline Poh Kim, Zhu Yuan, Hibberd Martin Lloyd, Tan Chee-Kiat, Purdy Michael A, Teo Chong-Gee Gastroenterology 2015 11 0. .
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