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Genomics & Health Impact Update

Volume 32  Number 12  March 27 - April 3, 2014About the Update

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Funding Opportunities

piggy bank on top of a few books

Core Infrastructure and Methodological Research for Cancer Epidemiology Cohorts, National Cancer Institute March 19,  2014

Genomics and Health Informatics Fellowship, CDC Division of Laboratory Programs, Standards and Services

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Reports and Publications

Newborn Screening

a newborn foot

Genomic counseling in the newborn period: Experiences and views of genetic counselors
Nardini MD, et al. J Genet Couns 2014 Mar

Whole-genome sequencing in newborn screening programs
Knoppers B, et al. Sci Transl Med 26 March 2014: Vol. 6, Issue 229, p. 229cm2

Should whole-genome sequencing become part of newborn screening? Science Daily, Mar 26

Newborn Screening: US And UK, Orphan Druganaut Blog, Mar 24

Reviews, News & Commentaries

stacked papers

Perspective: The calculus of cures.
Robert Kocher and Bryan Roberts NEJM February, 2014
In 2013, the Food and Drug Administration (FDA) approved 27 new drugs for marketing. Eight of these drugs are for rare diseases

Open window: when easily identifiable genomes and traits are in the public domain
Angrist M PLoS One 2014;9(3):e92060

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Matthew Might et al. Genetics in Medicine, March 20, 2014

Mutations explain poor showing of 2012 flu vaccine, by Declan Butler, Nature News, Mar 27

Blog post on leveraging resources to discover & validate biomarkers for early cancer detection, NCI Epidemiology, March 25, 2014  

Calls for more personalised breast cancer screening, PHG Foundation, Mar 24

Challenges to HBOC research enrollment: Competing cancer treatment studies, FORCE, Mar 24

Research funders outline steps to prevent re-identification of anonymised study participants, Wellcome Trust, Mar 24

We are all mutants: On the hunt for disease genes, researchers uncover humanity’s vast diversity  by Paul Voosen, Mar 24

The great FH debate: Reinforcing the fact that “time is plaque”,  by Seth Baum, Mar 24

Laying a solid foundation for Manhattan – ‘setting the functional basis for the post-GWAS era’.
Xiaoyang Zhang et al. Trends in Genetics, March 22, 2014

Sudden death. Proposed EKG screening for student athletes spurs medical debate, by Laura Beil, Science News, Mar 21

Circulating tumor DNA: A new generation of cancer biomarkers, by Elizabeth Burke, National Human Genome Research Institute, Mar 20

‘Genetic revolution’ enters new phase with help from Watson, by Robert Darnell, Mar 19

Behavioral counseling research and evidence-based practice recommendations, USPSTF, Mar 18

More on big data training for the scientific workforce, by Sally Rockey , NIH Extramural nexus, Mar 18

Institute of Medicine: Conflict of interest and medical innovation: ensuring integrity while facilitating innovation in medical research, Workshop Summary, March 21, 2014

Genetics clinic of the future: The living room, by Alice Green, DNA Digest, Feb 2014

Tools and Databases

numbers on a grid

openSNP-A crowdsourced web resource for personal genomics
Greshake B, et al. PLoS One 2014;9(3):e89204

Did you know? The HuGENavigator has searchable information on >90000 papers, >2700  genomewide association studies, >12000 genes &>2600 diseases

Did you know? The NIH Genetic Testing Registry now has information on 9,000 conditions, 15,000 tests and  75,000 variants

New tool pinpoints genetic sources of disease, describes “overlay” of genetic and epigenetic maps, Johns Hopkins, Mar 20

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Strengthening the Reporting of Molecular Epidemiology for Infectious Diseases (STROME-ID): an extension of the STROBE statement.
Field N, Cohen T, Struelens MJ, Palm D, Cookson B, Glynn JR, Gallo V, Ramsay M, Sonnenberg P, Maccannell D, Charlett A, Egger M, Green J, Vineis P, Abubakar I. Lancet Infect Dis. 2014 Mar 13. pii: S1473-3099(13)70324-4.

Comparative review of Francisella tularensis and Francisella novicida.
Kingry LC, Petersen JMFront Cell Infect Microbiol. 2014 Mar 13;4:35.

Q&A: Muin Khoury on cancer epidemiology.
Khoury MJ, Rose S. Cancer Discov. 2014 Feb;4(2):140.

Molecular surveillance of rotavirus infection in the Democratic Republic of the Congo August 2009 to June 2012.
Pukuta ES, Esona MD, Nkongolo A, Seheri M, Makasi M, Nyembwe M, Mondonge V, Dahl BA, Mphahlele MJ, Cavallaro K, Gentsch J, Bowen MD, Waku-Kouomou D, Muyembe JJ; SURVAC Working Group. Pediatr Infect Dis J. 2014 Apr;33(4):355-9.

Characterization of Clostridium botulinum strains producing BoNT/F4 or BoNT/F5.
Raphael BH, Bradshaw M, Kalb SR, Joseph LA, Lúquez C, Barr JR, Johnson EA, Maslanka SE. Appl Environ Microbiol. 2014 Mar 14.

Using Mitochondrial Genome Sequences to Track the Origin of Imported Plasmodium vivax Infections Diagnosed in the United States.
Rodrigues PT, Alves JM, Santamaria AM, Calzada JE, Xayavong M, Parise M, da Silva AJ, Ferreira MU. Am J Trop Med Hyg. 2014 Mar 17.

Rapid strategy for screening by pyrosequencing of influenza virus reassortants - candidates for live attenuated vaccines.
Shcherbik SV, Pearce NC, Levine ML, Klimov AI, Villanueva JM, Bousse TLPLoS One. 2014 Mar 19;9(3):e92580.

Real-time PCR assays for detection of Brucella spp. and the identification of genotype ST27 in bottlenose dolphins (Tursiops truncatus).
Wu Q, McFee WE, Goldstein T, Tiller RV, Schwacke L.  J Microbiol Methods. 2014 Mar 13. pii: S0167-7012(14)00073-6.

Concordance between molecular and phenotypic testing of Mycobacterium tuberculosis complex isolates for resistance to rifampin and isoniazid in the United States.
Yakrus MA, Driscoll J, Lentz AJ, Sikes D, Hartline D, Metchock B, Starks AM. J Clin Microbiol. 2014 Mar 19.

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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