Genomics & Health Impact Update
Volume 32 Number 5 February 6-13, 2014About the Update
Computation-Intensive Probabilistic and Statistical Methods for Large-Scale Population Genomics,
February 18 – 21 ~ Berkeley, CA
The First Line of Defense: Application of Breast Cancer Genomics Standards in Primary Care
February 21 ~ Pine Mountain, GA
Genomic Disorders 2014: The Genomics of Rare Diseases
March 5-7 ~ University Arms Hotel, Cambridge, UK
Exploring Human Host-Microbiome Interactions in Health and Disease
April 14-16 ~ Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
American Society of Clinical Oncology Expert Statement: Collection and use of a cancer family history for oncology providers
Lu KH, et al. J Clin Oncol 2014 Feb
Cancer risk management decision making for BRCA+ women
Jabaley Leonarczyk T & Mawn BE West J Nurs Res 2014 Jan
Cost-effectiveness analysis of Mammostrat(R) compared with Oncotype DX(R) to inform the treatment of breast cancer
Mislick K, et al. Clinicoecon Outcomes Res 2014;6:37-47
Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3671 families
Steinke V, et al. Int J Cancer 2013 Dec
Impact of Oncotype DX recurrence score in the management of breast cancer cases
Nguyen MT, et al. Clin Breast Cancer 2013 Dec
Population-based screening for Lynch syndrome in Western Australia
Schofield L, et al. Int J Cancer 2014 Jan
Over 10,000 cancer genome sequences released, PHG Foundation, Feb 5
Play to cure: Genes in space, Cancer Research UK
Smartphone game helps genetic analysis for cancer research, PHG Foundation, Feb 4
Triple-negative inflammatory breast cancer survivor: Facing new questions with genetic testing, by Kellie Bramlet, MD Anderson News, Feb 3
Cancer genomics enters a new era, by MaryAnn Labant, Genetics & Biotechnology News, Feb 1
An update to returning genetic research results to individuals: Perspectives of the industry pharmacogenomics working group
Prucka SK, et al. Bioethics 2014 Jan
Community perceptions of genomic research: implications for addressing health disparities
Isler MR, et al. N C Med J 2013 Nov-2013 Dec;74(6):470-6
Data sharing policy design for consortia: challenges for sustainability
Kaye J & Hawkins N Genome Med 2014 Jan;6(1):4
Policy recommendations for addressing privacy challenges associated with cell-based research and interventions
Ogbogu U, et al. BMC Med Ethics 2014 Feb;15(1):7
Poll shows we want those DNA Breakthroughs but worry scientists may be 'playing god', Emily Swanson, Huffington Post, Feb 2
Are you my cousin? By A. J. Jacobs, The New York Times Jan 31
A UK national audit of hereditary and acquired angioedema
Jolles S, et al. Clin Exp Immunol 2014 Jan;175(1):59-67
Discussing direct-to-consumer genetic DNA testing with patients – a short guide for health professionals, [PDF 536.25 Kb] National Health and Medical Research Council, Australian Government, Dec 2013
The growing role of professional societies in educating clinicians in genomics
Manolio T, et al. Genetics in Medicine, Feb 6, 2014
The communication of secondary variants: Interviews with parents whose children have undergone array-CGH testing
Christenhusz GM, et al. Clin Genet 2014 Jan
Technology is helping to give genetic disorders a name, by Philippa Roxby, BBC News, Feb 1
American Society of Clinical Oncology expert statement: Collection and use of a cancer family history for oncology providers
Lu KH, et al. J Clin Oncol. 2014 Feb 3.
Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry
Kuhara T Nihon Eiseigaku Zasshi 2014;69(1):60-74
Why does the Iranian National Program of Screening Newborns for G6PD enzyme deficiency miss a large number of affected infants?
Kosaryan M, et al. Pediatr Hematol Oncol 2014 Feb;31(1):95-100
EMA releases pharmacogenomics guidance, PharmTech, Jan 30
Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process
Caudle KE, et al. Curr Drug Metab 2014 Jan
PharmGKB summary: very important pharmacogene information for UGT1A1
Barbarino JM, et al. Pharmacogenet Genomics 2014 Mar;24(3):177-83
New videos: using genomic information to predict and prevent adverse drug reactions, NHS National Genetics and Genomics Education Centre
The impact of noninvasive prenatal testing on the practice of maternal–fetal medicine.
Lara A. Frie et al. AM J Perinatol, Jan 2014
In vitro screening of embryos by whole-genome sequencing: now, in the future or never?
Winand R, et al. Hum Reprod 2014 Feb
Preimplantation Genetic Diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene
Alice Uflacker, et al. JAMA Neurol. Feb 03, 2014.
Ethics questions arise as genetic testing of embryos increases, by Gina Kolata, The New York Times, Feb 3
Eighteen years' experience applying old and current strategies in the pre-participation cardiovascular screening of athletes
Deligiannis AP, et al. Hellenic J Cardiol 2014 Jan-2014 Feb;55(1):32-41
Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers
Joost Besseling et al. Atherosclerosis, Mar 2014
Personalized genomic results: Analysis of informational needs
Schmidlen TJ, et al. J Genet Couns 2014 Feb
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Susan K. Service et al. PloS Genetics, Jan 30
A twenty-five year outbreak of Pseudomonas aeruginosa infecting individuals with cystic fibrosis: identification of the Prairie Epidemic Strain (PES).
Parkin MD, et al. J Clin Microbiol, Jan 22
The genetics of major depression
Flint J, et al. Neuron, Volume 81, Issue 3, 484-503, 5 Feb 2014
Naming and framing in genomic testing
Bunnik E, et al. Trends Mol Med. 2014 Feb;20(2):63-5.
Single cell genomics: Advances and future perspectives.
Iain C. Macaulay, PloS Genetics, January, 2014
The lung microbiome: A new frontier in pulmonary medicine
Ann Am Thorac Soc 2014 Jan;11(supplement 1)
In-gene-ious: Fixing a body's broken genes is becoming possible, the Economist, Feb 8
NIH Research Matters: Genome study yields insights into bladder cancer, Feb 3
The genetics of developmental disabilities, SF Gate, Feb 3
On race and medicine: Until health care becomes truly personalized, race and ethnicity will continue to be important clues guiding medical treatments, by Keith Norris, The Scientist, Feb 1
BRCA brotherhood, by Amy Shainman, The BRCA Responder, January 31
Finding genomic function for genetic associations in nicotine addiction research: The ENCODE project's role in future pharmacogenomic analysis
Vandenbergh DJ & Schlomer GL Pharmacol Biochem Behav 2014 Jan
PredictSNP: Robust and accurate consensus classifier for prediction of disease-related mutations.
Jaroslav Bendl et al. PloS Comput Biology, Jan 2014
Toward more transparent and reproducible omics studies through a common metadata checklist and data publications
Kolker E, et al. OMICS: A Journal of Integrative Biology. Jan 2014, 18(1): 10-14.
The gene regulatory network for breast cancer: integrated regulatory landscape of cancer hallmarks.
Frank Emmert-Streib et al, Frontiers in Genetics, Feb 2, 2014
CDC authors are indicated in bold
Urine-based human papillomavirus DNA testing as a screening tool for cervical cancer in high-risk women
Mendez K, Romaguera J, Ortiz AP, Lopez M, Steinau M, Unger ER. Int J Gynaecol Obstet. 2014 Feb;124(2):151-5.
Frequency of prenatal cytogenetic diagnosis and pregnancy outcomes by maternal race-ethnicity, and the effect on the prevalence of trisomy 21, Metropolitan Atlanta, 1996-2005
Jackson JM, Crider KS, Cragan JD, Rasmussen SA, Olney RS. Am J Med Genet A. 2014 Jan;164(1):70-6.
Development of a loop-mediated isothermal amplification method for detection of histoplasma capsulatum DNA in clinical samples.
Scheel CM, Zhou Y, Theodoro RC, Abrams B, Balajee SA, Litvintseva AP. J Clin Microbiol. 2014 Feb;52(2):483-8.
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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