ACTUALIZACIÓN MÉDICO-CONTINUADA EN ENFERMEDADES EPIDEMIOLÓGICAMENTE NO COMUNICABLES ► NUEVO CAPÍTULO MÉDICO ► Human Genomics across the Lifespan || Public Health Genomics Knowledge Base (beta version)
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 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
- Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.
Gies Inge et al. European journal of pediatrics 2015 Oct - Assessment of G6PD screening program in premature infants in a NICU.
Lam R et al. Journal of perinatology : official journal of the California Perinatal Association 2015 Oct
Cancer
- Management of women at high risk of hereditary breast cancer in the Veneto Regional Program for Prevention.
Del Sole Annamaria et al. Epidemiologia e prevenzione 39(4 Suppl 1) 99-101 - SEOM clinical guidelines in early-stage breast cancer 2015.
Garcia-Saenz J A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2015 Oct - Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.
McCullough Laurence B et al. Pediatric blood & cancer 2015 Oct - Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.
Ngeow Joanne et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Aug 33(23) 2537-44 - Referral of Ovarian Cancer Patients for Genetic Counselling by Oncologists: Need for Improvement.
Ricci Maria Teresa et al. Public health genomics 2015 18(4) 225-32 - Cancer Worry, Perceived Risk and Cancer Screening in First-Degree Relatives of Patients with Familial Gastric Cancer.
Li Jenny et al. Journal of genetic counseling 2015 Oct
Chronic Diseases
- Associations of chronic conditions, APOE4 allele, stress factors, and health behaviors with self-rated health.
Hu Wen et al. BMC geriatrics 2015 15(1) 137 - Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.
Arslan-Kirchner Mine et al. European journal of human genetics : EJHG 2015 Oct
Ethics, Policy and Law
- Data sharing in stem cell translational science: policy statement by the International Stem Cell Forum Ethics Working Party.
Bredenoord Annelien L et al. Regenerative medicine 2015 Oct - To disclose, or not to disclose? Context matters.
Rahimzadeh Vasiliki et al. European journal of human genetics : EJHG 2015 Mar 23(3) 279-84 - Genetic Transmission of Disease: A Legal Harm?
Stanton Catherine et al. Health care analysis : HCA : journal of health philosophy and policy 2015 Oct
Genomics in Practice
- Standardization efforts enabling next-generation sequencing and microarray based biomarkers for precision medicine.
Zheng Yuanting et al. Biomarkers in medicine 2015 Oct - Public reaction to direct-to-consumer online genetic tests: Comparing attitudes, trust and intentions across commercial and conventional providers.
Critchley Christine et al. Public understanding of science (Bristol, England) 2015 Aug 24(6) 731-50 - Genetic testing and economic evaluations: a systematic review of the literature.
D'Andrea Elvira et al. Epidemiologia e prevenzione 39(4 Suppl 1) 45-50 - Web-based Gene Pathogenicity Analysis (WGPA): A web platform to interpret gene pathogenicity from personal genome data.
Diaz-Montana Juan J et al. Bioinformatics (Oxford, England) 2015 Oct - Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies.
Schlatter Rosane Paixão et al. Genetics and molecular biology 38(3) 332-7 - The emergence of precision therapeutics: New challenges and opportunities for Canada's health leaders.
Slater Jim et al. Healthcare management forum / Canadian College of Health Service Executives = Forum gestion des soins de sante / College canadien des directeurs de services de sante 2015 Oct - Where Failure Is Not an Option -Personalized Medicine in Astronauts.
Stingl Julia C et al. PloS one 2015 10(10) e0140764 - Translational Genomics in Low- and Middle-Income Countries: Opportunities and Challenges.
Tekola-Ayele Fasil et al. Public health genomics 2015 18(4) 242-7 - A Framework for Prioritizing Research Investments in Precision Medicine.
Basu Anirban et al. Medical decision making : an international journal of the Society for Medical Decision Making 2015 Oct - Interactive e-counselling for genetics pre-test decisions: where are we now?
Birch P H et al. Clinical genetics 2015 Mar 87(3) 209-17 - Promise of Precision Medicine.
Chen Christina X et al. JAMA 2015 Oct 314(16) 1752 - Guidelines for diagnostic next-generation sequencing.
Matthijs Gert et al. European journal of human genetics : EJHG 2015 Oct
Reproductive Health
- Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13.
Tynan J A et al. Prenatal diagnosis 2015 Oct - Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2015 Jul 37(7) 656-70 - Preimplantation genetic screening (PGS) is an excellent tool, but not perfect: a guide to counseling patients considering PGS.
Brezina Paul R et al. Fertility and sterility 2015 Oct - Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test.
Gil M M et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 Oct
News/Reviews/Commentaries
- Precision Medicine: The Future of Healthcare?
University of Pennsylvania, October 14, 2015 - Green Button: the promise of personalizing medical practice guidelines in real time,
Stanford Medicine News Center, October 26, 2015 - Know your genome,
DNA Land - Has FDA approval of 23andMe tests put the personal genetics revolution back on track?
By Arvind Suresh, Genetic Literacy Project, October 23, 2015 - Regulate Lab Tests To Advance Genomic Medicine,
by Joshua Sharfstein, New York Times, October 22, 2015 - Who Owns Your Genes?
By Diana Brazzell, Huffington Blog, October 27, 2015 - Catching up with breast cancer research, findings and recommendation,
by David Quick, The Post and Courier, October 26, 2015 - Incentivize Data Sharing of Genomic Information,
by Anna Laakman, New York Times, October 22, 2015 - Precision medicine in action: Genomic test helps solve medical mystery,
Sun Herald, October 28, 2015 - Processed meat and cancer,
by Dr. Ron Zimmern, PHG Foundation, October 27, 2015 - How much medical information would you share in the name of big data,
the Guardian, October 23, 2015 - This time, it’s personal: health policy and disease prevention,
by Dr. Philippa Brice, PHG Foundation, October 22, 2015 - New website built by Columbia researchers will crowdsource genetic information,
by Jerica Tan and Rachel Dichter, Columbia Spectator, October 27, 2015 - Genetics: Fluent in DNA.
Eisenstein Michael Nature 2015 10 0. (7571) 151-2.
Events
- 8th Annual Conference on the Science of Dissemination and Implementation
December 14-15 ~ Washington, DC - Applying an Implementation Science Approach to Genomic Medicine: A Workshop
November 19 ~ Washington, DC
CDC-Authored Genomics Publications
- Severe respiratory illness associated with a nationwide outbreak of enterovirus D68 in the USA (2014): a descriptive epidemiological investigation.
Midgley Claire M, Watson John T, Nix W Allan, Curns Aaron T, Rogers Shannon L, Brown Betty A, Conover Craig, Dominguez Samuel R, Feikin Daniel R, Gray Samantha, Hassan Ferdaus, Hoferka Stacey, Jackson Mary Anne, Johnson Daniel, Leshem Eyal, Miller Lisa, Nichols Janell Bezdek, Nyquist Ann-Christine, Obringer Emily, Patel Ajanta, Patel Megan, Rha Brian, Schneider Eileen, Schuster Jennifer E, Selvarangan Rangaraj, Seward Jane F, Turabelidze George, Oberste M Steven, Pallansch Mark A, Gerber Susan I, The Lancet. Respiratory medicine 2015 10 0. . - Molecular Investigation into a Malaria Outbreak in Cusco, Peru: Plasmodium falciparum BV1 Lineage is Linked to a Second Outbreak in Recent Times.
Okoth Sheila Akinyi, Chenet Stella M, Arrospide Nancy, Gutierrez Sonia, Cabezas Cesar, Matta Jose Antonio, Udhayakumar Venkatachalam The American journal of tropical medicine and hygiene 2015 10 0. . - Assessing the impact of pneumococcal conjugate vaccines on invasive pneumococcal disease using polymerase chain reaction-based surveillance: an experience from South Africa.
Tempia Stefano, Wolter Nicole, Cohen Cheryl, Walaza Sibongile, von Mollendorf Claire, Cohen Adam L, Moyes Jocelyn, de Gouveia Linda, Nzenze Susan, Treurnicht Florette, Venter Marietjie, Groome Michelle J, Madhi Shabir A, von Gottberg Anne BMC infectious diseases 2015 0 0. (1) 450. - Healthcare-Associated Transmission of Plasmodium falciparum in New York City.
Lee Ellen H, Adams Eleanor H, Madison-Antenucci Susan, Lee Lillian, Barnwell John W, Whitehouse Joan, Clement Ernest, Bajwa Waheed, Jones Lucretia E, Lutterloh Emily, Weiss Don, Ackelsberg Joel Infection control and hospital epidemiology 2015 10 0. 1-3. - Absence of putative artemisinin resistance mutations among Plasmodium falciparum in Sub-Saharan Africa: a molecular epidemiologic study.
Taylor Steve M, Parobek Christian M, DeConti Derrick K, Kayentao Kassoum, Coulibaly Sheick Oumar, Greenwood Brian M, Tagbor Harry, Williams John, Bojang Kalifa, Njie Fanta, Desai Meghna, Kariuki Simon, Gutman Julie, Mathanga Don P, Mårtensson Andreas, Ngasala Billy, Conrad Melissa D, Rosenthal Philip J, Tshefu Antoinette K, Moormann Ann M, Vulule John M, Doumbo Ogobara K, Ter Kuile Feiko O, Meshnick Steven R, Bailey Jeffrey A, Juliano Jonathan J The Journal of infectious diseases 2015 3 0. (5) 680-8. - Exploring Genomic, Geographic and Virulence Interactions among Epidemic and Non-Epidemic St. Louis Encephalitis Virus (Flavivirus) Strains.
Diaz Luis A, Goñi Sandra E, Iserte Javier A, Quaglia Agustín I, Singh Amber, Logue Christopher H, Powers Ann M, Contigiani Marta S PloS one 2015 0 0. (8) e0136316.
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