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Genomics & Health Impact Update

Volume 32  Number 14  April 10-17, 2014About the Update

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Reports and Publications


Doctor Explaining Diagnosis To Her Female Patient

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.

Validation of the Manchester scoring system for predicting BRCA1/2 mutations in 9,390 families suspected of having hereditary breast and ovarian cancer
Kast K, et al. Int J Cancer 2014 Apr

Sidestepping the biopsy with new tools to spot cancer, by Andrew Pollack, New York Times, Apr 7

TCGA and its vital role in understanding how germline variation informs the landscape of somatic alterations in cancer, Stephen Chanock, NCI, Apr 2

TCGA's Pan-Cancer efforts and expansion to include whole genome sequence, Carolyn Hutter, NCI, Apr 1

Newborn Screening

a newborn foot

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

Reproductive Health

a pregnant woman

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

Tools and Databases

numbers on a grid

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

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CDC-Authored Genomics Publications

hand holding a pen on an article

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[9] 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.

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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