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Genomics & Health Impact Update

Volume 32  Number 18  May 8-15, 2014About the Update

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Reports and Publications


Doctor Explaining Diagnosis To Her Female Patient

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype
Relling MV, et al. Clin Pharmacol Ther 2014 May

Collaboration of Colorado cancer genetic counselors to integrate next generation sequencing panels into clinical practice
Wolfe Schneider K, et al. J Genet Couns 2014 May

Cost sharing and hereditary cancer risk: predictors of willingness-to-pay for genetic testing
Matro JM, et al. J Genet Couns 2014 May

Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study
Hall MJ, et al. Genet Med 2014 May

Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample
Feigelson HS, et al. PLoS One 2014;9(5):e94977

Effect of a genomic classifier test on clinical practice decisions for patients with high-risk prostate cancer after surgery
Badani KK, et al. BJU Int 2014 Apr

Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer
Campacci N, et al. J Cancer Educ 2014 May

Recommendations on Disease Management for Patients With Advanced Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer and Brain Metastases: American Society of Clinical Oncology Clinical Practice Guideline
Ramakrishna N, et al. Journal of Clinical Oncology, 2014 May 5

Relevance and efficacy of breast cancer screening in BRCA1 and BRCA2 mutation carriers above 60 years; a national cohort study
Saadatmand S, et al. Int J Cancer 2014 May

Systemic therapy for patients with advanced human epidermal growth factor receptor 2–positive breast cancer: American Society of Clinical Oncology Clinical Practice Guideline
Giordano S, et al. Journal of Clinical Oncology, 2014 May 5

Let’s talk about risk: Personalizing breast cancer risk prediction. Improved genetic profiling and risk communication are enabling targeted breast-cancer prediction, detection and treatment for those who need it most. Show me the Evidence Series, May 2014

What does BRCA have to do with it? PARP inhibitors in ovarian cancer, Medscape, May 6

Family History

a family

Association of self-reported familial history of cardiometabolic disease with metabolic syndrome in apparently healthy urban Colombian men
Suarez-Ortegon MF, et al. Am J Hum Biol 2013 Mar-2013 Apr;25(2):228-30

What a family history of schizophrenia tells us, hosted by Dr. Gordon Atherley, Voice America, May 5

Infectious Diseases

an infected cell

A proteomics approach to the identification of plasma biomarkers for latent tuberculosis infection
Zhang X, et al. Diag Microbiol Infect Dis, Apr 26, 2014

Bovine leukemia virus DNA in human breast tissue
Buehring GC, et al. Emerg Infect Dis 2014 May.

Diagnosis of childhood tuberculosis and host RNA expression in Africa  
Anderson ST, et al. N Engl J Med 2014;370:1712-1723

Global analyses of human immune variation reveal baseline predictors of postvaccination responses
Tsang JS, et al. Cell (2014 Apr)157:2;499-513

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans
Mackelprang RD, et al. J Infect Dis. (2014) 209 (10): 1623-1627

Newborn Screening

a hand holding a newborn

Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo
Morikawa S, et al. Clin Pediatr Endocrinol 2014 Apr;23(2):35-43

Minnesota House passes newborn screening bill, Genome Web, May 2 [by free subscription only]


Reviews, News & Commentaries

stacked papers

Trial watch: Personalized medicines in late-stage development
Christopher-Paul Milne et al. Nature Reviews Drug Discovery, April 30, 2014 

Cancer Omics—how much information is enough? GEN, May 6

Ending the diagnostic odyssey, PHG Foundation, May 6

From human genome research to clinical care: why standards are a health policy issue, by Dr Leila Luheshi, May 6

Mining the big data mountain, by Dr. Francis Collins, NIH Director’s Blog, May 6

Consumer gene tests face uncertain future, by Andrea Kissack, KQED, May 5

Direct-to-consumer genetic testing: a case of potential harm, by Nancy Fliesler, Vector, May 5

Here comes the sun: Genes and rethinking your sunscreen, by Ben Locwin, Genetic Literacy Project, May 5

How can gene testing help to treat and prevent cancer? By Nazneen Rahman, Harvesting the Genome blog post, May 5

Monitoring RNA levels in blood samples yields dynamic picture of fetal development, disease, say researchers, by Krista Conger, May 5

Step away from the DNA? Circulating *RNA* in blood gives dynamic information about pregnancy, health, by Krista Conger, Scope Blog, May 5

PCORI looks to link millions of electronic medical records by September 2015 , Policy and Medicine, May 5

Refusal to test genetics: Many people fear problems if disease risk found, by Randy Shore, the Vancouver Sun, May 5

Personal genomics: ‘Consumer’ DNA analysis may be of limited use (with video), the Vancouver Sun, May 5

Personal genomics: The test for everything (with video), by Randy Shore, the Vancouver Sun, May 5

Are pap smears on the way out? The New York Times, May 4

Genome sequencing: A costly way to save, by Randy Shore, the Vancouver Sun, May 4

Students learn about genes for NC DNA Day, Blue Ridge Now, May 3

11 years later: The human genome paves the way for genomic technology, by Ilana Greene, The Huffington Post, May 1

Tools and Databases

numbers on a grid

The Phenotype-Genotype Integrator (PheGenI), merges genome-wide association study (GWAS) catalog data with several databases housed at the National Center for Biotechnology Information (NCBI), including Gene, dbGaP, OMIM, GTEx and dbSNP

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Wild-type measles viruses with non-standard genome lengths
Bankamp B, Liu C, Rivailler P, Bera J, Shrivastava S, Kirkness EF, Bellini WJ, Rota PA.
PLoS One. 2014 Apr 18;9(4):e95470

Are we there yet? The smallpox research agenda using variola virus
Damon IK, Damaso CR, McFadden G. PLoS Pathog. 2014 May 1;10(5):e1004108

Feline fecal virome reveals novel and prevalent enteric viruses
Ng TF, Mesquita JR, Nascimento MS, Kondov NO, Wong W, Reuter G, Knowles NJ, Vega E, Esona MD, Deng X, Vinjé J, Delwart E. Vet Microbiol. 2014 Apr 13. pii: S0378-1135(14)00205-3

Genetic diversity of rotavirus genome segment 6 (encoding VP6) in Pretoria, South Africa
Nyaga MM, Esona MD, Jere KC, Peenze I, Seheri ML, Mphahlele MJ. Springerplus. 2014 Apr 5;3:179

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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