Genomics & Health Impact Update:
Volume 32 Number 14 April 10-17, 2014About the Update
Features of the Week
The Cancer Genome Atlas' 3rd Annual Scientific Symposium
May 12-13 ~ Bethesda, MD
Human Heredity and Health in Africa (H3Africa) Genome Analysis Session
June 2 ~ Cape Town, South Africa
Bioinformatics & Pharmacogenomics: Managing and Analyzing Big Data Conference
June 19-20 ~ San Diego, CA
Why we can't wait: 2014 conference to eliminate health disparities in genomic medicine- the role of policy
September 4-5 ~ Washington, DC
Adherence patterns to National Comprehensive Cancer Network guidelines for referral of women with breast cancer to genetics professionals
Stuckey A, et al. Am J Clin Oncol 2014 Apr
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
Aaron M Newman et al Nature, April 6, 2014
Cancer therapy resistance: chasing epigenetics
Nature Medicine, April 7, 2014
Cost effectiveness of a 92-gene assay for the diagnosis of metastatic cancer
Bentley TG, et al. J Med Econ 2014 Apr
Cost-effectiveness of a 14-gene risk score assay to target adjuvant chemotherapy in early stage non-squamous non-small cell lung cancer
Roth JA, et al. Oncologist 2014 Apr
Epidermal growth factor receptor tyrosine kinase inhibitors vs conventional chemotherapy in non–small cell lung cancer harboring wild-type epidermal growth factor receptor - a meta-analysis
Lee J, et al. JAMA. 2014;311(14):1430-1437
From observation to intervention: Development of a psychoeducational intervention to increase uptake of BRCA genetic counseling among high-risk breast cancer survivors
Vadaparampil ST, et al. J Cancer Educ 2014 Apr
Linkage of DNA methylation quantitative trait loci to human cancer risk.
Heyn H,et al. Cell Rep. 2014 Apr 2. pii: S2211-1247(14)00194-6.
Long-term satisfaction and quality of life following risk reducing surgery in BRCA1/2 mutation carriers
Hooker GW, et al. Hered Cancer Clin Pract 2014 Apr;12(1):9
Prospective multicenter study of the impact of Oncotype DX colon cancer assay results on treatment recommendations in stage II colon cancer patients
Srivastava G, et al. Oncologist 2014 Apr
To foster screening, new colon cancer tests emphasize convenience.
Cassandra Willyard, Nature Medicine, April 7, 2014
The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes
Huether R, et al. Nat Commun. 2014 Apr 8;5:3630.
Sidestepping the biopsy with new tools to spot cancer, by Andrew Pollack, New York Times, Apr 7
TCGA's Pan-Cancer efforts and expansion to include whole genome sequence, Carolyn Hutter, NCI, Apr 1
Open window: When easily identifiable genomes and traits are in the public domain
Misha Angrist. PLOS ONE, March 2014
Revisiting respect for persons in genomic research
Mathews DJ & Jamal L Genes (Basel) 2014;5(1):1-12
ESHG questions legality of new EU genetic counselling laws, PHG Foundation, Apr 7
European Society for Human Genetics questions legality of new EU genetic counselling laws, by Alison Hall and Dr Philippa Brice, PHG Foundation, Apr 7
Fearing punishment for bad genes, by Kira Peikoff, New York Times, Apr 7
Do you want genetic research to move forward? Then start sharing data! By Isabel Duarte, Huffington Blog Post, Apr 3
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Akimoto C, et al. J Med Genet 2014 Apr
Attitudes of medical genetics practitioners and psychiatrists toward communicating with patients about genetic risk for psychiatric disorders
Zhou YZ, et al. Psychiatr Genet 2014 Apr
Genetic literacy and patient perceptions of IBD testing utility and disease control: a randomized vignette study of genetic testing
Hooker GW, et al. Inflamm Bowel Dis 2014 Mar
Aetna policy bulletin indicates insurer unlikely to cover most proteomic cancer tests, Genome Web, Apr 4 8 [by free subscription only]
Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update
Wolff AC, et al. Arch Pathol Lab Med 2014 Feb;138(2):241-56
The case for mandatory newborn screening for severe combined immunodeficiency (SCID)
Gaspar HB, et al. J Clin Immunol 2014 Apr
Dissecting deadly delays in newborn screening, by Amy Gaviglio, Genes in Life Blog, Apr 9
States making changes to improve timeliness of newborn screening, Milwaukee-Wisconsin Journal Sentinel, Apr 8
Cost-effectiveness of pharmacogenetics-guided warfarin therapy vs. alternative anticoagulation in atrial fibrillation
Pink J, et al. Clin Pharmacol Ther 2014 Feb;95(2):199-207
New data on pharmacogenetic anticoagulant dosing: What do conflicting study results mean? Clinical Laboratory News, Apr 2014
Community case clusters of Middle East Respiratory Syndrome coronavirus in Hafr Al-Batin, Kingdom of Saudi Arabia: a descriptive genomic study
Memish ZA, et al. Int J Infect Dis, 31 Mar 2014.
Dietary macronutrients, genetic variation, and progression of coronary atherosclerosis among women.
Kalantarian S et al, Am Heart J. 2014 Apr;167(4):627-635.
High-throughput sequencing, a versatile weapon to support genome-based diagnosis in infectious diseases: applications to clinical bacteriology
Caboche S, et al. Pathogens 2014; 3(2): 258-279.
Host and viral determinants of the outcome of exposure to HCV infection genotype 4: a large longitudinal study
Kamal SM, et al. Am J Gastroenterol 2014 Feb;109(2):199-211.
Methodological challenges in mendelian randomization.
Vanderweele TJ et al. Epidemiology. 2014 Mar 27.
Predicting the virulence of MRSA from its genome sequence
Laabei M, et al. Genome Res, 9 Apr 2014.
Social disadvantage, genetic sensitivity, and children’s telomere length
Mitchell C, et al. PNAS 2014 Mar 10
Telomeres show signs of early-life stress, The Scientist, Apr 7
What’s the damage? The impact of pathogens on pathways that maintain host genome integrity
Weitzman MD, Weitzman JB. Cell Host & Microbe 2014; 15(3): 283–294.
MRSA genome predicts toxicity, Bioscience Technology, Apr 9
Impact of noninvasive prenatal testing in regionally dispersed medical centers in the United States
Platt LD, et al. Am J Obstet Gynecol 2014 Apr
Noninvasive prenatal testing goes global.
Subhashini Chandrasekharan et al, Science, April 9, 2014
Is big data the new frontier for academic-industry collaboration?
Sachin H. Jain, et al. JAMA, April 3, 2014
The modern social contract between the patient, the healthcare provider, and digital medicine [PDF 674.56 KB]
Nimita L et al. Socialomics (2014)
Will omics help to cure the flu?
Ludwig S. Trends Microbiol, Mar 26, 2014.
Biomarkers and aging: The clock-watcher, by W. Wayt Gibbs, Nature News, Apr 8
Capturing social and behavioral domains in electronic health records, Institute of Medicine Report & Recommendations, Apr 8
Why gene therapy just got easier, The Economist, Apr 8
Stress alters children's genomes. Poverty and unstable family environments shorten chromosome-protecting telomeres in nine-year-olds, by Jyoti Madhusoodanan , Nature News, Apr 7
Women with Turner syndrome tell their stories, by Alyssa Botelho, Boston Globe, Apr 7
Experts decode germs' DNA to fight food poisoning, ABC News, By Lauran Neergaard, Apr 6
Inspiring the future generation of scientists, genomics landscape, Dr Eric Green, Apr 2
Should our genes dictate our diet? The new world of nutritional genomics, by Tim Crowe, Eating Well, Apr 2
Video: Bioinformatics: 25 years of integrating the biological sciences, by Jason Moore, You Tube, Apr 1
The HuGE Navigator now has more than 90000 publications that can be searched for gene-disease associations, genomewide association studies and gene-environment interactions
A proposed clinical decision support architecture capable of supporting whole genome sequence information
Brandon M. Welch et al. J Pers Med April 2014
VCGDB: a dynamic genome database of the Chinese population, BMC Genomics 2014
CDC authors are indicated in bold
Discordance between Self-Report and Genetic Confirmation of Sickle Cell Disease Status in African-American Adults.
Bean CJ, Hooper WC, Ellingsen D, Debaun MR, Sonderman J, Blot WJ. Public Health Genomics. 2014 Mar 28.
Whole-genome single-nucleotide-polymorphism analysis for discrimination of Clostridium botulinum group I strains
Gonzalez-Escalona N, Timme R, Raphael BH, Zink D, Sharma SK. Appl Environ Microbiol. 2014 Apr;80(7):2125-32.
Cancer Screening and Genetics: A Tale of Two Paradigms.
Hamilton JG1, Edwards HM, Khoury MJ, Taplin SH. Cancer Epidemiol Biomarkers Prev. 2014 Apr 4.
Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk
Jenkins MM, Reefhuis J, Gallagher ML, Mulle JG, Hoffmann TJ, Koontz DA, Sturchio C, Rasmussen SA, Witte JS, Richter P, Honein MA. Am J Med Genet A. 2014 Mar 25.
Genetic host specificity of hepatitis E virus
Lara J, Purdy MA, Khudyakov YE. Infect Genet Evol. 2014 Mar 22.
Relationship between level of hepatitis B virus DNA and liver disease: a population-based study of hepatitis B e antigen-negative persons with hepatitis B
McMahon BJ, Bulkow L, Simons B, Zhang Y, Negus S, Homan C, Spradling P, Teshale E, Lau D, Snowball M, Livingston SE. Clin Gastroenterol Hepatol. 2014 Apr;12(4):701-706.e3.
Full-genome sequence of a rare human G3P rotavirus strain
Mijatovic-Rustempasic S, Roy S, Sturgeon M, Rungsrisuriyachai K, Esona MD, Degroat D, Qin X, Cortese MM, Bowen MD. Genome Announc. 2014 ;2(2).
Collaborative biomedicine in the age of big data: the case of cancer.
Shaikh AR, Butte AJ, Schully SD, Dalton WS, Khoury MJ, Hesse BW. J Med Internet Res. 2014 Apr 7;16(4):e101.
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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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