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Genomics & Health Impact Update

Volume 32   Number 1   January 8- 16, 2014About the Update

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Reports and Publications


Cancer

Doctor Explaining Diagnosis To Her Female Patient

Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact
Baars JE, et al. Clin Genet 2013 Dec

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA et al. Nat Genet. 2013 Dec 22

Better genetic risk prediction for colorectal and womb cancer, by Dr Philippa Brice, PHG Foundation, Jan 6, 2014

Assessment of family history of colorectal cancer in primary care: Perceptions of first degree relatives of people with colorectal cancer
Cameron E, et al. Patient Educ Couns 2013 Dec

Breast cancer knowledge and screening behaviour among women with a positive family history: A cross sectional study
Subramanian P, et al. Asian Pac J Cancer Prev 2013;14(11):6783-90

Discovery and saturation analysis of cancer genes across 21 tumour types
Michael S. Lawrence et al. Nature, Jan 5, 2014

Early-onset colorectal cancer patients without family history are "at very low risk" for Lynch syndrome
Stigliano V, et al. J Exp Clin Cancer Res 2014 Jan;33(1):1

Mutation spectrum in South American Lynch syndrome families [PDF 563.39 KB]
Mev Dominguez-Valentin et al. Hereditary Cancer in Clinical Practice 2013, 11:18 doi:10.1186/1897-4287-11-18

The impact of the Oncotype DX recurrence score on treatment decisions and clinical outcomes in patients with early breast cancer: the Maccabi Healthcare Services experience with a unified testing policy
Siegelmann-Danieli N, et al. Ecancermedicalscience 2013;7:380

Lynch syndrome presenting as endometrial cancer.
Tafe LJ, et al. Clin Chem. 2014 Jan;60(1):111-21.

Evidence warrants screening patients with endometrial cancer for Lynch syndrome, Oncology Nurse Advisor, Jan 6, 2014

Report: Screen uterine cancer patients for Lynch syndrome, by Meghan Pierce, New Hampshire Union Leader, Dec 2013

Getting close and personal. Researchers and drug companies are ganging up for a new push against cancer. The Economist, Jan 4, 2014

Why everyone seems to have cancer, by George Johnson, New York Times, Jan 4, 2014 

Medicare slashes reimbursement for BRCA gene testing, Medscape, Jan 3, 2013

Ethics, Policy and Law

Genomics in Practice

a doctor pointing to an item

Essential elements of personalized medicine.
Burke W, et al. Urol Oncol. 2013 Dec 6.

Familial Hypercholesterolemia
Joshua W Knowles and Emily Youngblom GeneReviews 2014 Jan 2

Genomics, personalized medicine, and pediatrics.
Feero WG, et al. Acad Pediatr. 2014 Jan-Feb;14(1):14-22.

Importance of psychiatric examination in predictive genetic testing for Huntington disease
Uhrova T, et al. Neurol Neurochir Pol 2013 Nov-2013 Dec;47(6):534- 41

Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing
Hallam S, et al. J Mol Diagn 2013 Dec

Wheezing in children with sickle cell disease.
Glassberg JA, Strunk R, Debaun MR. Curr Opin Pediatr. 2013 Dec 24.

NCHPEG, The Jackson Laboratory, and partners two new educational programs for pediatric and neurology providers.

Genomics for child neurology is a program for child neurology educators and clinicians that addresses genomic risk assessment, genetic and genomic testing, and communication with families about genomic data.

ABCs of chromosomal microarray is a resource for developmental and behavioral pediatricians on indications for and interpretation of chromosomal microarray (CMA).

Reviews & Commentaries on Science & Technology

stacked papers

Annotating DNA variants is the next major goal for human genetics.
Gary Cutting, Am J Hum Genetics, Jan 2014

Behavior and biology: The accidental epigeneticist.
Stephen S. Hall, Nature, Dec 30, 2013

Evidence based medicine is broken. Des Spence, general practitioner, Glasgow
BMJ 2014;348, 3 Jan 2014

Progress in genomics according to bingo: 2013 edition.
Konrad J Karczewski. Genome Biology, Dec 2013

Potential expansion of Qatari inherited disease screening, PHG Foundation, Jan 8, 2014

On genetic causality: forwards and backwards, by Kevin Mitchell, Wiring the brain, Jan 7, 2014

The Exposome, podcast from the National Institute for Environmental Health Sciences, Jan 6, 2014

The problems with genomic prediction. Need it be stated again? The Mermaid’s Tale, Jan 6, 2014

Cheaper genetic tests for breast cancer risks in 2014? MIT Technology Review, Dec 31, 2013

Seven major trend changes of 2013- (i) sequencing technology, Homolog US, Blog post, Dec 31, 2013

Seven major trend changes of 2013- (ii) bioinformatics. in NGS bioinformatics, SPAdes Assembler, BCR algorithm and diginorm approach gained prominence, Homolog US Blog post, Dec 31, 2103

Seven major trend changes of 2013 – (iii) genomics. biologists saw an explosion of genome papers, leading to the end of genome paper era, Homolog US Blog Dec 31, 2013

Genomic studies sift centenarian DNA for genes protecting against age-related diseases, by J Dorrier,  SIngularity Blogpost, Dec 29 , 2013

Diabetes gene common in Latinos has ancient roots, by Michaeleen Doucleff, NPR, Dec 25, 2013

Investing in the nation’s health, Francis Collins, Director, National Institutes of Health, Dec 24, 2013

2013: A year of innovation, inspiration, by Edward Abrahams, Personalized Medicine Coalition, Dec 20, 2013

3 ways genetic knowledge is power-the goal is prepared patients, not “patients in waiting”, by Charis Eng, Cleveland Clinic, Dec 13, 2013

Moving towards a metagenomic basis of therapeutics, Peter Turnbaugh, Genome TV videocast, 2013

Using DNA methylation to examine epigenetic changes, by Robin Arnette, National Insitute for Environmental Health Sciences, Dec 2013

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Prevalence of sequence types among clinical and environmental isolates of Legionella pneumophila serogroup 1 in the United States from 1982 to 2012
Kozak-Muiznieks NA, Lucas CE, Brown E, Pondo T, Taylor TH Jr, Frace M, Miskowski D, Winchell JM. J Clin Microbiol 2014; 52(1):201-211.

Molecular signatures of antibody responses derived from a systems biology study of five human vaccines.
Li S, Rouphael N, Duraisingham S, Romero-Steiner S, Presnell S, Davis C, Schmidt DS, Johnson SE, Milton A, Rajam G, Kasturi S, Carlone GM, Quinn C, Chaussabel D, Palucka AK, Mulligan MJ, Ahmed R, Stephens DS, Nakaya HI, Pulendran B. Nat Immunol. 2013 Dec 15.

Genotypic and epidemiologic trends of norovirus outbreaks in the United States, 2009 to 2013
Vega E, Barclay L, Gregoricus N, Shirley SH, Lee D, Vinjé J. J Clin Microbiol. 2014 Jan;52(1):147-55.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes  genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.

 

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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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