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Genomics & Health Impact Update

Volume 31   Number 25   December 24 - January 9, 2014About the Update

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Select Events

conference room

Assessing Genomic Sequencing Information for Health Care Decision Making: A Workshop
Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health  
February 3 ~ Washington, DC

Cancer Epigenetics (Q1)
February 4-9 ~ Santa Fe, NM

Genomic Disorders 2014: The Genomics of Rare Diseases
March 5-7 ~ Cambridge, UK

European Summer School on Nutrigenomics
September 1-5 ~ Camerino, Italy

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Reports and Publications


Doctor Explaining Diagnosis To Her Female Patient

Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations
Hongmei Nan, et al. JNCI, Dec 7

BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface
Lee AJ, et al. Br J Cancer 2013 Dec

Cancer genetic counselor information needs for risk communication: A qualitative evaluation of interview transcripts
Overby CL, et al. J Pers Med 2013;3(3)

Consortium launches genotyping effort
Cancer Discov 2013 Dec;3(12):1321-2

Network formed to discover new cancer susceptibility variants, NCI Cancer Epidemiology Matters News, Dec 2013

Do BRCA1 and BRCA2 mutation carriers have earlier natural menopause than their noncarrier relatives? Results from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.
Collins IM, et al. J Clin Oncol. 2013 Nov 1;31(31):3920-5.

Identifying potential cancer driver genes by genomic data integration
Yong Chen et al. Nature, 2013 Dec 18

Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations
Conner JR, et al. Gynecol Oncol 2013 Dec

Optimizing recruitment to a prostate cancer surveillance program among male BRCA1 mutation carriers: invitation by mail or by telephone
Galor A, et al. Hered Cancer Clin Pract 2013 Dec;11(1):17

When will genomics cure cancer? A conversation with the biogeneticist Eric S. Lander about how genetic advances are transforming medical treatment, by James Fallows, the Atlantic, Dec 22

In BRCA, tamoxifen may reduce contralateral breast cancer risk, Clinical Oncology, Dec 2013

Angelina didn't help educate people about breast cancer risk, by Maanvi Singh, National Public Radio Dec 20

Communication and technology in genetic counseling for familial cancer.
Lynch HT,  et al Clin Genet. 2013 Nov 8

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Gastroenterology. 2013 Dec 9

Risk management options elected by women after testing positive for a BRCA mutation
Garcia C, et al. Gynecol Oncol 2013 Dec

Guidelines and Recommendations

Newborn Screening

a newborn foot

Screening newborns for disease can leave families in limbo, by Nell Greenfieldboyce, National Public Radio, Dec 23


Reviews & Commentaries on Science & Technology

stacked papers

The emerging agenda of stratified medicine in neurology.
Paul M. Matthews Nature Reviews Neurology, Dec 10 

Post-GWAS: where next? More samples, more SNPs or more biology? P Marjoram et al. Heredity, Jan 2014

NIH 2013 Research Highlights, Dec 23

A doctor’s intimate view of hemophilia, Claudia Dreifus, New York Times, Dec 23

Doing the genomic revolution right, by Trisha Page, Huffington Post, Dec 20

Gene research follows the crowd- GeneTalk links rare-disease geneticists, stokes collaborations, by Alex Philippidis, GEN Blog, Dec 19

Medicine in the genomic era, Howard Hughes Medical Institute Biointeractive Series

Participatory medicine: a driving force for revolutionizing healthcare
Leroy Hood and Charles Auffray Genome Medicine, December 2013

365 days: 2013 in review, Nature News, Dec 18

European bioinformatics infrastructure ELIXIR launched, by Philippa Brice, PHG Foundation, Dec 18

Do you really want to know what your genetic code says about you? Forbes, Dec 17

The start of a journey, Ewan's Blog-Bioinformatician at large, Dec 17

Smoking changes our genes, Uppsala University, Dec 17

Author post: Joint analysis of functional genomic data and genome-wide association studies of 18 human traits, Joe Pickrell, Haldane’s Sieve, Dec 16

Dual 'hidden' meaning within DNA code discovered, by Philippa Brice PHG Foundation, Dec 16

Harvard geneticist George Church on genome testing: “I wouldn’t wait. I didn’t wait.” By Callum Borchers, Boston Globe, Dec 13

Charting the RNA epigenome,  Leah Eisenstadt, Broad Institute Blog, Dec 13

Education in Computational Biology Today and Tomorrow, PloS Computational Biology, Dec 13

Utah Genome Project aims to sequence several thousand individuals from variety of disease cohorts, Genome Web, Dec 11 [by free subscription only]

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Recommendations for returning genomic incidental findings? We need to talk!
Burke W, Matheny Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Genet Med. 2013 Nov;15(11):854-9.

Identification of vaccine-derived polioviruses using dual-stage real-time RT-PCR.
Kilpatrick DR, Ching K, Iber J, Chen Q, Yang SJ, De L, Williams AJ, Mandelbaum M, Sun H, Oberste MS, Kew OM. J Virol Methods. 2013 Dec 6.

Personal history of diabetes, genetic susceptibility to diabetes, and risk of brain glioma: a pooled analysis of observational studies
Kitahara CM, Linet M, Brenner AV, Wang SS, Melin B, Wang Z, Inskip PD, Beane Freeman L, Braganza MZ, Carreon T, Feychting M, Gaziano JM, Peters U, Purdue MP, Ruder A, Sesso HD, Shu XO, Waters M, White E, Zheng W, Hoover RN, Fraumeni JF, Chatterjee N, Yeager M, Chanock SJ, Hartge P, Rajaraman P. Cancer Epidemiol Biomarkers Prev. 2013 Nov 12.

Epigenetic research in cancer epidemiology: Trends, opportunities, and challenges.
Verma M, Rogers S, Divi RL, Schully SD, Nelson S, Su LJ, Ross S, Pilch S, Winn DM, Khoury MJ. Cancer Epidemiol Biomarkers Prev. 2013 Dec 10

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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