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Genomics & Health Impact Update

Volume 32   Number 7   February 20-27, 2014Previous Issue  About the Update


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Select Events

conference room

The Future of Genomic Medicine VII, [PDF 778.13 KB] March 6-7, 2014, Scripps Institute, LaJolla, CA

American College of Medical Genetics, March 25-29, 2014, Nashville TN

Ethics at the Crossroads: Where Public Health, Genomics, Data, and Translational Science Meet Indiana University, May 7th 2014 , Purdue University Indianapolis Campus Center, Indianapolis, IN

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Reports and Publications


Cancer

Doctor Explaining Diagnosis To Her Female Patient

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2
Jackson SA, et al. Cancer 2014 Feb

Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis
Metcalfe K, et al. BMJ 2014;348:g226

Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study
Ayme A, et al. Breast Cancer Res Treat 2014 Feb

Fine-mapping the HOXB region detects common variants tagging a rare coding allele: Evidence for synthetic association in prostate cancer
Edward J. Saunders, et al.  PLOS Genetics 10(2): e1004129

Prostate cancer study suggests synthetic association between common SNPs and rarer causal variant, Genome Web, Feb 14 [by free subscription only]

Lynch Syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old
Baiocchi GL, et al. BMC Surg 2014 Feb;14(1):9

Patient-reported disease knowledge and educational needs in Lynch syndrome: findings of an interactive multidisciplinary patient conference.
Bannon SA, et al.  Hered Cancer Clin Pract. 2014 Feb 5;12(1):1.

Screening colonoscopy in first-degree relatives of patients with colorectal cancer
Barzin G, et al. Arch Iran Med 2014 Feb;17(2):115-7

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: Results from the initial screening round of the IMPACT Study.
Bancroft EK, et al.  Eur Urol. 2014 Jan 15.

Gene test helps patients avoid thyroid surgery. A molecular diagnosis gives doctors and patients better treatment options when suspicious lumps are found in the neck, by Susan Young, Tech Review, Feb 18

Seeking medical clues from the 'super responder', Frank Diamond, the Inquirer, Feb 16

If it works, new approach to detecting cancer may save your life, Christina Farr, Venture Beat, Feb 15

Nothing prepared me for cancer: My first diagnosis of cancer came at age 29. After the second diagnosis 7 years later, I thought, this time I could die, by Suzann Vera, ASCO Post Feb 15

Women with breast cancer gene mutation more likely to survive cancer after double mastectomy, Youtube video, Feb 13

Ethics, Policy & Law

Newborn Screening

a newborn foot

50 years of newborn screening
Hoffmann GF, et al. J Inherit Metab Dis 2014 Feb

Newborn bloodspot screening: setting the Australian national policy agenda
Maxwell SJ & O'Leary P Med J Aust 2014 Feb;200(3):142-3

Reviews, News & Commentaries

stacked papers

Ribosome profiling: new views of translation, from single codons to genome scale.
Nicholas T. Ingolia. Nature Reviews Genetics, February, 2014

Susceptibility to type 2 diabetes mellitus—from genes to prevention
Hivert MF, et al. Nature Reviews Endocrinology (2014)

Genomics and the origin of species
Seehausen O, et al. Nature Reviews Genetics 15,176–192 (2014) Feb 18

Why "big data" is a big deal- information science promises to change the world, Harvard Magazine, March 2014

The genetics of being a daredevil, The New York Times Blog Post, Feb 19

Whole genome analysis speeds up: 240 full genomes in 50 hours, Science Daily, Feb 19

The $1,000 genome is here, MIT Technology Review, Feb 18

Has the missing heritability of a common disease been found? PHG Foundation, Feb 18

Data to discovery: Genomes to health, [PDF 2.18 MB] a White Paper from the National Consortium for Data Science

Policy recommendations on using genomic big data for health, PHG Foundation, Feb 17

Top ten tech trends: Putting genetic data in clinicians' hands, by David Raths, Healthcare Informatics, Feb 17

Opinion: Translational Biotechnology- Regulators must consider both the promise and potential pitfalls of new technologies when determining whether to move them into clinical trials, by John D. Loike, the Scientist, Feb 17

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.
Justin M Zook et al. Nature Biotechnology, February 16, 2014

How to hide your genome, Science Now, February 16, 2014

Six persistent research misconceptions.
Ken Rothman, J Gen Int Medicine, January 2014

Building up biology.
Nature Chemical Biology, February 14, 2014

Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding
D Cohen et al. British Medical Journal, February 12, 2014 

DNA testing used to dig up family roots
Technology opens doors in genealogical research, by Tony Gozalez. The Tennessean, Feb. 15

Computers select personal medicine, by Jonathan Amos, BBC News, February 15, 2014 

In search of scientific blunders, by Ken Weiss, Mermaid Tale Blog, February 17, 2014

Tools and Databases

numbers on a grid

272 articles have recently been added to the HuGE Literature Finder

1 record have recently been added to the GAPP Finder of the GAPP Knowledge Base

The Cancer Genomics and Epidemiology Navigator provides regularly updated linked information on NCI-funded cancer epidemiology & genomics research grants, peer-reviewed publications, and evidence-based cancer genomic tests

Mendelscan: an exome-based mapping and variant prioritization tool for the study of Mendelian Disorders

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Intra-host diversity and evolution of hepatitis C virus endemic to Côte d'Ivoire.
Forbi JC, Campo DS, Purdy MA, Dimitrova ZE, Skums P, Xia GL, Punkova LT, Ganova-Raeva LM, Vaughan G, Ben-Ayed Y, Switzer WM, Khudyakov YE. J Med Virol. 2014 Feb 12.

Robust regression analysis of copy number variation data based on a univariate score.
Satten GA, Allen AS, Ikeda M, Mulle JG, Warren ST. PLoS One. 2014 Feb 7;9(2):e86272.

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.

 

Send Web sites that you would like to see included in a future update to genetics@cdc.gov

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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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  • Additional information for Public Health Genomics is available on our contact page.
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