 For information on genomic applications in practice and prevention, please visit the GAPP Knowledge Base |
 For information on genomic applications in cancer care and prevention, please visit the CancerGEM Knowledge Base |
Genomics & Health Impact Update
The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice. We highlight news and information on the use of genomic tests and other applications, including family health history, in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send your comments to: genetics@cdc.gov.
Thursday, June 16, 2011 Volume 26 Number 24
Spotlight
New Funding Opportunity
The Centers for Disease Control and Prevention announces a new funding opportunity for programs to assist the adoption of evidence-based recommendations for breast cancer genomic tests and other related interventions into health practice maximizing health benefits and minimizing harm to individuals and populations.
Announcements
- Speedy sequencing of E. coli from German outbreak
Preliminary information:- Rapid sequencing of the deadly E. coli, PHG Foundation, June 14
- Scientists Rush to Study Genome of Lethal E. coli, Science, June 10
CDC information on the E. coli outbreak:
- Genomics and Health Impact Blog Posts:
- World Sickle Cell Awareness Day is June 19th:
- CDC Feature
- Sickle Cell Disease - CDC's National Center on Birth Defects and Developmental Disabilities
- Sickle Cell Disease: What You Should Know [PODCAST - 6:36 minutes]
- New Sickle Cell Public Health Initiative - CDC Expert Commentary
Topics
Genomic Tests
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia)
Orrico A, et al.
Eur J Hum Genet 2011 Jun
Clinical utility gene card for: Haemophilia A
Keeney S, et al.
Eur J Hum Genet 2011 Jun
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base.
Practice and Programs
Rapid sequencing of the deadly E.coli, PHG Foundation, June 14
CDC to fund state breast cancer genomics efforts, Genome Web, June 10 [by free subscription only]
Policy and Legislation
Children and biobanks: a review of the ethical and legal discussion
Hens K, et al. Hum Genet 2011 Jun
Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law
Huys I, et al. Eur J Hum Genet. 2011 Jun 8
FDA approves HER2 test for breast cancer, Genome Web, June 14 [by free subscription only]
Restoring trust vital in public acceptance of the use of residual newborn screening specimens, Science Daily, June 14
Could prenatal DNA testing open Pandora's box, AJC, June 12
Data and Statistics
"That's a good question": University researchers' views on ownership and retention of human genetic specimens
Cadigan RJ, et al. Genet Med 2011 Jun;13(6):569-75
Motivations and Perceptions of Early Adopters of Personalized Genomics: Perspectives from Research Participants
Gollust SE, et al. Public Health Genomics 2011 Jun
The Environmental Polymorphism Registry - a Unique Resource that Facilitates Translational Research of Environmental Disease
Chulada PC, et al. Environ Health Perspect 2011 Jun
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism.
Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Neuron. 2011 Jun 9;70(5):863-85.
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.
Gilman SR, Iossifov I, Levy D, et al. Neuron. 2011 Jun 9;70(5):898-907.
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders Neuron
Levy D, Ronemus M, Yamrom B, et al. Neuron. 2011 Jun 9;70(5):886-97.
Why autism is rarer in girls: new genetic theory, PHG Foundation, June 15
Genetic causation of ASD appears to be highly diverse; thoughts on why fewer girls have autism, Medical News Today, June 9
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Cao K, Blair CD, Faddah DA, et al. J Clin Invest. 2011 Jun 13.
NIH researchers find new clues about aging, NIH News, June 13
Variation in genome-wide mutation rates within and between human families
Conrad DF et al. Nature Genetics 2011 June 12
We are all mutants: first direct whole-genome measure of human mutation predicts 60 new mutations in each of us, Science Daily, June 12
The orphan disease networks.
Zhang M, Zhu C, Jacomy A, et al, Am J Hum Genet. 2011 Jun 10;88(6):755-66.
Orphan diseases often caused by essential-to-survival gene mutations, Medical News Today, June 10
Effects of Natural Selection and Gene Conversion on the Evolution of Human Glycophorins Coding for MNS Blood Polymorphisms in Malaria-Endemic African Populations
Wen-Ya Ko, Kristin A. Kaercher, Emanuela Giombini, et al. The American Journal of Human Genetics, Volume 88, Issue 6, 741-754
Penn researchers show new evidence of genetic 'arms race' against malaria, EurekAlert, June 9
Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project.
Skinner D, Choudhury S, Sideris J, et al, Pediatrics. 2011 Jun;127(6):e1455-63
Should babies be screened for untreatable disorders? PHG Foundation, June 9
For this week's 203 human genome epidemiology articles, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
An automated genotyping tool for enteroviruses and noroviruses
Kroneman A, Vennema H, Deforche K, Avoort HV, Penaranda S, Oberste MS, Vinje J, Koopmans M. J Clin Virol. 2011 Jun;51(2):121-5.
Combined gene expression profiling and RNAi screening in clear cell renal cell carcinoma identify PLK1 and other therapeutic kinase targets
Ding Y, Huang D, Zhang Z, Smith J, Petillo D, Looyenga BD, Feenstra K, Mackeigan JP, Furge KA, Teh BT. Cancer Res. 2011 Jun 3.
Varicella zoster virus DNA at inoculation sites and in saliva after Zostavax immunization
Pierson DL, Mehta SK, Gilden D, Cohrs RJ, Nagel MA, Schmid DS, Tyring SK. J Infect Dis. 2011 Jun;203(11):1542-5.
View previous CDC-authored publications
Let's Go Surfing
The ghost of personalized medicine, The Scientist, June 14
New epigenetic map resource in development, PHG Foundation, June 13
CREST maps somatic structural variation in cancer genomes with base-pair resolution.
Wang J, Mullighan CG, Easton J, et al. Nat Methods. 2011 Jun 12.
Researchers improve method for finding genetic mistakes that fuel cancer, EurekAlert, June 12
DNA-based diet assists with disease prevention, USA Today, June 11
Events and Training
3rd North American Congress of Epidemiology
Integrating Large-Scale Genomic Information into Clinical Practice: A Workshop
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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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