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
- Clinical utility gene card for: Peters plus syndrome.
Jaeken Jaak et al. European journal of human genetics : EJHG 2016 Apr - Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.
Pattathu Joseph et al. Heart (British Cardiac Society) 2016 May 102 Suppl 2ii36-ii41
Cancer
- Synergistic Patient and Research Knowledge Systems - SPARKS: Oncology Data Retrieval System - OncDRS
- Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and KRAS Mutations in Advanced Lung Cancer.
Sacher Adrian G et al. JAMA oncology 2016 Apr - Different risk factors for advanced colorectal neoplasm in young adults.
Kim Ji Yeon et al. World journal of gastroenterology 2016 Apr 22(13) 3611-20 - Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.
Cohen Paul A et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2016 Apr - Impact of genomic testing and patient-reported outcomes on receipt of adjuvant chemotherapy.
Evans Chalanda N et al. Breast cancer research and treatment 2016 Apr - OncDRS: An integrative clinical and genomic data platform for enabling translational research and precision medicine.
Orechia John et al. Applied & translational genomics 2015 Sep 618-25 - Trends in Media Reports of Celebrities' Breast Cancer Treatment Decisions.
Sabel Michael S et al. Annals of surgical oncology 2016 Apr
Chronic Diseases
- Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen Rong et al. Nature biotechnology 2016 Apr
Ethics, Policy and Law
- The Public and the Gene-Editing Revolution.
Blendon Robert J et al. The New England journal of medicine 2016 Apr 374(15) 1406-1411 - Ethical and regulatory aspects of genome editing.
Kohn Donald B et al. Blood 2016 Apr - 23andMe: a new two-sided data-banking market model.
Stoeklé Henri-Corto et al. BMC medical ethics 2016 17(1) 19
Genomics in Practice
- Genetics and genomic medicine in Mali: challenges and future perspectives.
Landouré Guida et al. Molecular genetics & genomic medicine 2016 Mar 4(2) 126-34
Cardiovascular Diseases
- Association of a Family History of Coronary Heart Disease With Initiation of Statin Therapy in Individuals at Intermediate Risk
Safarova MS, et al. JAMA Cardiol. April 13, 2016 - Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community.
Andersen Lars et al. Journal of clinical lipidology 10(2) 443-4 - Examining barriers to cascade screening for familial hypercholesterolemia in the United States.
Andersen Rolf et al. Journal of clinical lipidology 10(2) 225-7 - LOWER, a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia: Rationale and design.
Blom Dirk J et al. Journal of clinical lipidology 10(2) 273-82 - ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow.
Borthwick Kenneth M et al. International journal of biomedical data mining 2015 Dec 4(1) - Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.
Mickiewicz Agnieszka et al. Atherosclerosis 2016 Mar 24952-58 - Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
Rallidis Loukianos S et al. Atherosclerosis 2016 Mar 24917-21
Newborn Screening
- Newborn screening for cystic fibrosis.
Castellani Carlo et al. The Lancet. Respiratory medicine 2016 Apr - Improvement of medical care in a cohort of newborns with sickle-cell disease in North Paris: impact of national guidelines.
Couque Nathalie et al. British journal of haematology 2016 Apr - National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations.
Sirdah Mahmoud M et al. Clinical genetics 2016 Apr
Reproductive Health
- Carrier screening in the era of expanding genetic technology.
Arjunan Aishwarya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr - Pros and cons of implementing a carrier genetic test in an infertility practice.
Gil-Arribas Elisa et al. Current opinion in obstetrics & gynecology 2016 Apr - Assessment of clinical application of preimplantation genetic screening on cryopreserved human blastocysts.
Liu Min et al. Reproductive biology and endocrinology : RB&E 2016 14(1) 16
Pharmacogenomics
- Dosing recommendations for pharmacogenetic interactions related to drug metabolism.
Filipski Kelly K et al. Pharmacogenetics and genomics 2016 Apr - Documenting Pharmacogenomic Testing with CPT Codes.
Hefti Erik et al. Journal of AHIMA / American Health Information Management Association 2016 Jan 87(1) 56-9 - Leading clinical pharmacogenomics implementation: Advancing pharmacy practice.
Johnson Samuel G et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2015 Aug 72(15) 1324-8
News/Reviews/Commentaries
- Second Chinese team reports gene editing in human embryos,
by Ewen Callaway, Nature News, April 8, 2016 - Thirteen Anonymous Genetic Superheroes Walk Among Us,
by Ed Young, the Atlantic, April 11, 2016 - How one Colombian family could solve some of Alzheimer’s mysteries,
by Kenneth S. Kosik, STAT, April 12, 2016 - The transformation of oncology,
Varmus H. Science 2016 Apr 8 - New Scripps Study Combines DNA Testing, Sensors to Improve Parkinson’s Diagnosis,
HIT Consultant, April 7, 2016 - How Do 'Genetic Superheroes' Overcome Their Bad DNA?
By Rob Stein, NPR, April 11, 2016 - Know Your Genes: The Role Of Genetics In Ovarian Cancer,
Huffington Post, April 13, 2016 - Finding a Cure for Spinal Muscular Atrophy, the Number One Genetic Cause of Infant Death,
by Robin Lally, Rutgers News, April 11, 2016 - Genomics: The Power to Predict – How a gene mutation became a signal for a deadly cancer,
by Thomas James, WUSA, April 11, 2016 - Genetic Superheroes Walk Among Us, But Shhh! No One Can Tell ‘Em,
by Sarah Zhang, Wired, April 11, 2016
Events
- Cancer and Family History: Using Genomics for Prevention,
April 19, 2016, Public Health Grand Rounds, CDC - Will Precision Medicine Improve Public Health?
May 3, 2016 ~ Webinar
CDC-Authored Genomics Publications
- Sustained Effectiveness of Rotavirus Vaccine Against Very Severe Rotavirus Disease Through the Second Year of Life, Bolivia 2013-2014.
Pringle Kimberly D, Patzi Maritza, Tate Jacqueline E, Iniguez Rojas Volga, Patel Manish, Inchauste Jordan Lucia, Montesano Raul, Zarate Adolfo, De Oliveira Lucia, Parashar Umesh Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 5 0. S115-20. - Effectiveness of Monovalent Rotavirus Vaccine After Programmatic Implementation in Botswana: A Multisite Prospective Case-Control Study.
Gastañaduy Paul A, Steenhoff Andrew P, Mokomane Margaret, Esona Mathew D, Bowen Michael D, Jibril Haruna, Pernica Jeffrey M, Mazhani Loeto, Smieja Marek, Tate Jacqueline E, Parashar Umesh D, Goldfarb David M Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 5 0. S161-7. - Genomic resolution of outbreak-associated Legionella pneumophila serogroup 1 isolates from New York State.
Raphael Brian H, Baker Deborah J, Nazarian Elizabeth, Lapierre Pascal, Bopp Dianna, Kozak-Muiznieks Natalia A, Morrison Shatavia S, Lucas Claressa E, Mercante Jeffrey W, Musser Kimberlee A, Winchell Jonas M Applied and environmental microbiology 2016 4 0. . - Prevalent mutator genotype identified in fungal pathogen Candida glabrata promotes multi-drug resistance.
Healey Kelley R, Zhao Yanan, Perez Winder B, Lockhart Shawn R, Sobel Jack D, Farmakiotis Dimitrios, Kontoyiannis Dimitrios P, Sanglard Dominique, Taj-Aldeen Saad J, Alexander Barbara D, Jimenez-Ortigosa Cristina, Shor Erika, Perlin David S Nature communications 2016 0 0. 11128. - Serotypes and genotypes of Streptococcus pneumoniae isolates from Trinidad and Tobago.
Nurse-Lucas Michele, McGee Lesley, Hawkins Paulina A, Swanston William H, Akpaka Patrick Eberechi International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2016 4 0. . - The molecular characterizations of surface proteins hemagglutinin and neuraminidase from recent H5Nx avian influenza viruses.
Yang Hua, Carney Paul J, Mishin Vasiliy P, Guo Zhu, Chang Jessie C, Wentworth David E, Gubareva Larisa V, Stevens James Journal of virology 2016 4 0. .
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