Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive this update electronically every week sign-up here.
Thursday, January 31, 2013 Volume 30 Number 5
Healthy People 2020: Review of Progress in Cancer Genomics
- What is Healthy People 2020? Healthy people provides science-based, 10-year national objectives for improving the health of all Americans. Healthy People 2020 establishes benchmarks and monitors progress over time. To find out more
- Healthy People 2020 Progress Review: Cancer and Genomics Topic Areas February 6, 2013 12:30 pm EST- Please join online
- Healthy People 2020: Genetic tests have the potential to improve health via disease diagnosis, risk prediction, prevention & treatment
- Did you know that 2 tier 1 genomic applications (BRCA and Lynch syndrome) are included in Healthy People 2020 objectives?
- CDC Blog Post: What gets measured gets done: Genomics and Healthy People 2020
- NIH Genetics 101: Understand basics of genetics and genomics testing—Resources designed with health literacy in mind
- CDC blog post: What’s the connection between polio eradication and primary immunodeficiency? A public health role for human genetics. By Marta Gwinn
- National primary immunodeficiency resource, Jeffrey Modell Foundation
- Ten warning signs of primary immune deficiency
- 21st-century hazards of smoking and benefits of cessation in the United States
Prabhat Jha et al. New Engl J Med Jan 24
- 50-year trends in smoking-Related mortality in the United States
Thun M, Carter B, Feskanich D, et al. New Engl J Med Jan 24
- In a NEJM editorial, Schroeder addresses new evidence that cigarette smoking remains most important health hazard.
- CDC information: Tobacco control state highlights 2012
- NCI Tobacco Control Monograph: Phenotypes and endophenotypes: Foundations for genetic studies of nicotine use and dependence. [PDF 6.22 MB]
- Since 2001, more than 5100 publications have looked at genetic associations with smoking and smoking related diseases. These include 80 genomewide association studies. GSTM1, GSTT1, CYP1A1 are the top genes studied. To find out more, visit the HuGE Navigator
- CDC blog post: Never let genetics blind you to the harsh reality of cigarettes
- Smokefree.gov information: Smoking cigarettes is expensive. Use our calculator to find out how much of your money is going up in smoke
- American Heart Association new public service announcement to teach Americans how to spot a stroke F.A.S.T. (Face drooping, Arm weakness, Speech difficulty, Time to call 911)
- Check out this F.A.S.T. infographic
- CDC stroke information: Stroke is a leading cause of death in the United States.
- CDC stroke information: Genomics and family history
- CDC information: Sickle cell disease is a genetic disease associated with increased risk of stroke.
- Fighting misconceptions about sickle cell disease in the ER, NPR, Jan 24
- Did you know that more than 900 genes have been studied in relation to risk of stroke? This includes 47 genomewide association studies. To find out more, visit the HuGENavigator
- Baseline characteristics and mortality among people in care for chronic viral hepatitis: the chronic hepatitis cohort study.
Moorman AC, Gordon SC, Rupp LB, et al. Clin Infect Dis. 2013 Jan;56(1):40-50.
- New data highlight US hepatitis burden, Healio, Jan 23
- CDC paper: Molecular surveillance of hepatitis C
- CDC paper: Antibody- and genome-based identification of recent HCV infection
- CDC paper: Application of mass spectrometry to molecular surveillance of hepatitis B and C viral infections
- CDC recommendation for the identification of chronic hepatitis C virus infection among persons born during 1945–1965
- Since 2001, 1252 genes have been studied in relation to hepatitis infection, complications and treatment. This includes 39 genomewide association studies. The most commonly studied genes are IL28B, HLA-DRB1 and TNF. To find out more visit the HuGENavigator
- CDC information: High flu activity continues nationwide
- CDC information: If you get a flu shot, you’re 60% less likely to get sick & spread flu to others. Learn more
- CDC information: It’s not too late to get flu vaccine, but our second line of defense, prompt treatment, also important
- CDC information: People with certain genetic diseases are at high risk for serious illness from flu. Find out more
- The role of host genetics in susceptibility to influenza: A systematic review.
Horby P et al. PLoS One 2012
- Genetic basis of pathogenicity of influenza: 1. Genes in humans associated with more severe influenza 2. A new genetic virological factor in influenza viruses that modulates the host response. ECDC Review 2012
- CDC study: A pilot study of host genetic variants associated with influenza-associated deaths among children and young adults.
Ferdinands JM, Denison AM, Dowling NF, et al. Emerg Infect Dis. 2011 Dec;17(12):2294-302.
- CDC study: Innate immune function and mortality in critically ill children with influenza: A multicenter study
Hall MW, Geyer SM, Guo CY, et al. Crit Care Med. 2013 Jan;41(1):224-236.
- Did you know that 10 human genes have been reported with risk or severity of human influenza? To find out more, please visit the HuGE Navigator
Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals
Yong-Hong Zhang, Yan Zhao, Ning Li, Yan-Chun Peng, et al. Nature Communications 4:1418 Jan 29
- Genetics may explain severe flu in Chinese people, Yahoo News, Jan 29
- Genetic Alliance Webinar Series: What about Privacy and Progress in Whole Genome Sequencing? Starts Feb 12
- The Genomics Landscape a Decade after the Human Genome Project National Human Genome Research Institute Symposium April 25, 2013
NIH to fund ethical, legal, social studies of genomics research in Africa, Genome Web, Jan 28 [by free subscription only]
Comparison and validation of genomic predictors for anticancer drug sensitivity.
Papillon-Cavanagh S, et al JAMIA Jan 2013
Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non–clinic-based sample of women in northern California
Lin, W. T., Beattie, M., Chen, L.-m., et al. Cancer. 2013 Jan 29
- Early menopause may occur in women with BRCA gene, Science Daily, Jan 29
DNA-mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): A catalogue of clinically relevant cancer mutations to enable genome-directed cancer therapy
Yeh P, et al. Clin Cancer Res 2013 Jan
Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?
Powell CB, et al. Int J Gynecol Cancer 2013 Jan
Early onset breast cancer in a registry-based sample of African-American women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.
Pal T, Bonner D, Kim J, et al. Breast J. 2013 Jan 16.
Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk
McClellan KA, et al. Eur J Hum Genet 2013 Jan
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
Clark VE, Erson-Omay EZ, Serin A, et al. Science. 2013 Jan 24.
- Genetic landscape of common brain tumors holds key to personalized treatment, Science Daily, Jan 24
Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2.
McLaughlin JR, Rosen B, Moody J, J Natl Cancer Inst. 2013 Jan 16;105(2):141-8.
Risk-reducing salpingo-oophorectomy and ovarian cancer screening in 1077 women after BRCA testing
Mannis GN et al. JAMA Jan 28
Significance analysis of prognostic signatures
Beck A, Knoblauch N, Hefti M, et al. PLoS Comput Biol 9(1): e1002875
Stool DNA testing for the detection of colorectal neoplasia in patients with inflammatory bowel disease
Kisiel JB, et al. Aliment Pharmacol Ther 2013 Jan
Survey of melanoma mutations reveals changes in regulatory regions for telomerase
Franklin W. Huang et al. Science Jan 24
Telomerase promoter mutations in familial and sporadic melanoma.
Horn S et al. Science Jan 24
TERT promoter mutations in familial and sporadic melanoma.
Horn S, Figl A, Rachakonda PS, et al. Science. 2013 Jan 24.
- Highly recurrent TERT promoter mutations in human melanoma
Huang FW, Hodis E, Xu MJ, et al. Science. 2013 Jan 24.
- Non-coding mutations may drive cancer, the Scientist, Jan 24
- Mutations found in melanomas may shed light on how cancers grow, The New York Times, Jan 24
- Highly recurrent TERT promoter mutations in human melanoma
Ethics in prevention science involving genetic testing
Fisher CB & Harrington McCarthy EL Prev Sci 2013 Jan
Genetic discrimination and life insurance: a systematic review of the evidence
Joly Y, Feze N, Simard J. BMC Medicine 2013, 11:25 Jan 31
- Experts propose overhaul of ethics oversight of research, Science Daily, Jan 23
Genomics in Practice
Citizens' perspectives on personalized medicine: a qualitative public deliberation study
Bombard Y, et al. Eur J Hum Genet 2013 Jan
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
Ridge PG, et al. J Clin Bioinforma 2013 Jan;3(1):3
Family health history communication networks of older adults: importance of social relationships and disease perceptions
Ashida S, et al. Health Educ Behav 2013 Jan
Guidelines and Recommendations
- Risk categorization for oversight of laboratory-developed tests for inherited conditions
Monaghan KG, Benkendorf J, Cherry AM, et al. Genet Med. 2013 Jan 24.
- Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing
McCalren BJ et al. Genet Med. 2013 Jan 24
Pharmacogenomics in the pocket of every patient? A prototype based on quick response codes.
Samwald M, Adlassnig KP. J Am Med Inform Assoc. 2013 Jan 23.
Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high risk women based on a U.S. population
Song K, et al. J Matern Fetal Neonatal Med 2013 Jan
- Recent advances in the prenatal interrogation of the human fetal genome
Hui L, Bianchi DW. Trends in Genetics, Feb 2013
The uptake and outcome of prenatal and preimplantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)
van Rij MC, et al. Clin Genet 2013 Jan
Public Health Sciences
Characterizing biobank organizations in the U.S.: results from a national survey.
Henderson GE et al. Genome Medicine Jan 25
Familial risk of venous thromboembolism in first-, second- and third-degree relatives: a nationwide family study in Sweden
Zoller B, et al. Thromb Haemost 2013 Jan;109(3)
- Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.
Patel CJ, et al. Hum Genet Jan 2013
- Vitamin D and mortality: A mendelian randomization study
Trummer O, et al. Clin Chem Dec 2012
Reviews and Commentaries on Science & Technology
- Half a million DVDs in your DNA by Service R. Science, Jan 23
- Claim that most biomedical research is wrong is being challenged by a new result suggesting that only 14 per cent is wrong. MIT Review, Jan 23
- Will DNA someday replace the hard drive? By Katherine Bourzac, MIT review, Jan 23
- Transposable elements re-wire and fine-tune the transcriptome.
Cowley M, and Oakey RJ. PLoS Genetics Jan 24
- Genomics technology to add value and address problems in energy and mining by M Spear, GenOmics Blog Post, Jan 25
- Sustainable health systems visions, strategies, critical uncertainties and scenarios [PDF 1.68 MB], Jan 2013
- Has big data reached its moment of disillusionment? Hesseldahl E, Jan 24
- Genomic analysis results: understanding, or fairy dust? Mermaid’s Tale Blog Post, Jan 28
- Genes, junk food and weight, NIH Research Matters, Jan 28
- Blue-sky HIV test chip will upload results to the cloud, Nature blog post, Jan 28
- Gene sequencing yields breakthrough for children with rare Parkinson’s-like disorder, Nature blog post, Jan 30
- RNA fragments may yield rapid, accurate cancer diagnosis
Ferguson W, Scientific American, 2013 Jan 30
CDC authors are indicated in bold
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy
Nabukera SK, Romitti PA, Caspers KM, Street N, Cunniff C, Mathews KD, Fox DJ, Puzhankara S, Ciafaloni E, James KA, Su Y. Am J Med Genet A. 2013 Jan;161(1):70-75.
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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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