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, December 6, 2012 Volume 29 Number 23
15 Years of Public Health Genomics
- The UK celebrates 15 years of public health genomics, December 3 conference on Translating genomics: Making science work for health
- 15 years of public health genomics in the US. CDC Office of Public Health Genomics 2012 At-A-Glance
- CDC new blog: From genetic counseling in individuals and families to cascade screening in populations: An emerging role for public health practice
- Priorities for public health genomics 2012-2017 (Blog and Report)
- CDC paper: Current priorities for public health practice in addressing the role of human genomics to improve population health. Am J Prev Med 2011
- OPHG publications 1997-2012
- CDC publications in pathogen and human genomics 2012
- CDC newborn screening information
- Association for Public Health Laboratories/CDC Baby, look at me now! Jumbotron in Times Square opens APHL/CDC campaign celebrating 50 years saving babies' lives, November 29
- Conditions recommended for inclusion in newborn screening panel, from the Advisory Committee on Newborn Screening and Heritable Disorders
- What is phenylketonuria PKU and what does it mean to raise a baby who has it? December 3 was PKU Awareness Day
- Potential impact of whole genome sequencing on newborn screening, Nov 28
- Preventing Lethal Hospital Outbreaks of Antibiotic-Resistant Bacteria, NEJM perspective Dec 6
- Personalized microbial epidemiology: Outsmarting outbreaks with whole genome sequencing, Science, Nov 30
- Molecular epidemiology of chronic pseudomonas aeruginosa airway infections in cystic fibrosis Nina Cramer, et al. PloS ONE
- Bioinformatics for the Human Microbiome Project: PloS Computational Biology, Nov 29
- Real-time genetics could squash “superbug” outbreaks before they spread, Scientific American, Nov 29
- CDC blog: Now watch this: Genomic epidemiology
World AIDS Day
- December 1 was AIDS day. Over 34 million people worldwide are living with HIV. Do you know your HIV status?
- From AIDS.gov: The 2012 theme for World AIDS day is "Working together for an AIDS-free generation"
- CDC Information: National HIV and STD testing resources: Finding a testing site near you
- The future of genomics in HIV medicine: Presentations and slides from the AIDS 2012 conference, July 2012, Washington DC
- Landmarks of the HIV genome
- One for all, all for one: Sanger Institute blog: New method gets super-variable HIV genome sequences within reach Nov 23
Lung Cancer, Genomics, Prevention & Treatment
- CDC Feature: Lung cancer awareness- Smoking causes 80 to 90 percent of cases of lung cancer. Don't smoke, and avoid secondhand smoke
- CDC Blog: Smoking and Genetics- No easy answers
- HuGENavigator Phenopedia search reveals 1043 genes have been reportedly associated with increased risk of lung cancer
- HuGENavigator GWAS integrator search reveals 84 hits from genomewide association studies
- Tier 1 Genomic Test: Erlotinib for the first-line treatment of locally advanced or metastatic EGFR-TK mutation-positive non-small cell lung cancer, Guidelines from National Institute for Clinical Excellence (UK) [PDF 189.11 KB] and the National Comprehensive Cancer Network [PDF 1.47 MB]
Genomic Medicine-Whole Genome Sequencing
- DNA DTC: The return of direct to consumer whole genome sequencing- Genomics Law Report, Nov 29
- Medscape genomic medicine discussion: Should your patient know what's in his or her genome? (free registration)
- Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing: systematic review. Westbrook et al, Genetics In Medicine, Nov 29
- Cost-effectiveness analysis of screening for KRAS and BRAF mutations in metastatic colorectal cancer, JNCI
- Proof or principle? On economic modeling to guide genomic testing in metastatic colorectal cancer, JNCI editorial
- Gene testing cost-effective, but treatment costly for CRC, Medscape, December 4 [by free subscription only]
- Genomic innovation will better target treatment in the National Health Service UK, 2012 report
New Insights with Potential for Translation
- Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.
Forsberg LA, Absher D, Dumanski JP. J Med Genet. 2012 Nov 21.
- Human mitochondrial DNA: roles of inherited and somatic mutations.
Schon EA, Dimauro S, Hirano M. Nat Rev Genet. 2012 Dec;13(12):878-90.
- Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing: RJ Leary et al. Science Transl Med Nov 29.
- Why new cancer biomarkers may never work: recurrent patterns and remarkable diversity in biomarker failures. Kern SE. Cancer Res Nov 2012
- Human epigenetics: Showing your age, Nature Rev Genetics, Dec 2012
- Next-generation proteomics: towards an integrative view of proteome dynamics, Nature Review Genetics, Dec 2012
- Centenarians: Great expectations. by Michael Eisenstein Nature Dec 6 perspective
Epigenome-wide association studies (EWAS) in cancer
Verma M Curr Genomics 2012 Jun;13(4):308-13
Psychosocial factors and uptake of risk-reducing salpingo-oophorectomy in women at high risk for ovarian cancer
Meiser B, et al. Fam Cancer 2012 Dec
Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing
Leary RJ, Sausen M, Kinde I, et al. Sci Transl Med. 2012 Nov 28;4(162):162ra154
- Cancer screening via blood test and gene sequencing, Medical News Today, November 30
- Selumetinib plus docetaxel for KRAS-mutant advanced non-small-cell lung cancer: a randomised, multicentre, placebo-controlled, phase 2 study
Pasi A Jänne, Alice T Shaw, José Rodrigues Pereira, et al. Lancet Oncology.2012
- Most common lung cancer mutation responds to targeted treatment, Medscape, November 29 [by free subscription only]
Genomics in Practice
Online communication about genetics and body weight: implications for health behavior and internet-based education
Persky S, et al. J Health Commun 2012 Nov
Parental interest in a genetic risk assessment test for autism spectrum disorders
Narcisa V, et al. Clin Pediatr (Phila) 2012 Nov
- Majority of parents interested in genetic risk assessment for siblings of children with autism, Medical News Today, November 30
Genome sequencing for babies brings knowledge and conflicts, NPR, December 3
Clinical utility gene card for: Rothmund-Thomson syndrome
Larizza L, et al. Eur J Hum Genet 2012 Nov
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
Rubinstein WS, et al. Nucleic Acids Res 2012 Nov
Utilization of HER2 genetic testing in a multi-institutional observational study
Goddard KA, et al. Am J Manag Care 2012 Nov;18(11):704-12
Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis
Marta Faryna, Carolin Konermann, Sebastian Aulmann, et al. FASEB J 26:4937-4950
- New genetic test detects early breast cancer and identifies future risk, Science Daily, November 29
- Supreme Court to look at a gene issue, The New York Times, November 30
Guidelines and Recommendations
NSGC practice guideline: Risk assessment and genetic counseling for hereditary breast and ovarian cancer
Berliner JL, et al. J Genet Couns 2012 Nov
Frequency of high-quality communication behaviors used by primary care providers of heterozygous infants after newborn screening
Farrell MH & Christopher SA Patient Educ Couns 2012 Nov
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J. Wapner, et al. New Engl J Med Dec 6
- Editorial: Application of Genomic Technology in Prenatal Diagnosis
Lorraine Dugoff, N Engl J Med 2012; 367:2249-2251
- Editorial: Application of Genomic Technology in Prenatal Diagnosis
Non-invasive prenatal testing for single gene disorders: exploring the ethics
Deans Z, et al. Eur J Hum Genet 2012 Nov
Public Health Sciences
Large-scale association analysis identifies new risk loci for coronary artery disease
The CARDIoGRAMplusC4D Consortium, et al. Nature Genetics 2012
- Insights into the genetic causes of coronary artery disease and heart attacks, Wellcome Sanger Trust, December 2
- Results of Tayside gene tests help find heart disease link, BBC News, December 2
- New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
Momoko Horikoshi et al. Nature Genetics, 2012
- Genes linked to low birth weight, adult shortness and later diabetes risk, Science Daily, December 2
CDC authors are indicated in bold
Genomic comparison of Escherichia coli O104:H4 isolates from 2009 and 2011 reveals plasmid, and prophage heterogeneity, including Shiga toxin encoding phage stx2
Ahmed SA, Awosika J, Baldwin C, Bishop-Lilly KA, Biswas B, Broomall S, Chain PS, Chertkov O, Chokoshvili O, Coyne S, Davenport K, Detter JC, Dorman W, Erkkila TH, Folster JP, Frey KG, George M, Gleasner C, Henry M, Hill KK, Hubbard K, Insalaco J, Johnson S, Kitzmiller A, Krepps M, Lo CC, Luu T, McNew LA, Minogue T, Munk CA, Osborne B, Patel M, Reitenga KG, Rosenzweig CN, Shea A, Shen X, Strockbine N, Tarr C, Teshima H, van Gieson E, Verratti K, Wolcott M, Xie G, Sozhamannan S, Gibbons HS. PLoS One. 2012 ;7(11):e48228.
Influenza virus h5 DNA vaccination is immunogenic by intramuscular and intradermal routes in humans
Ledgerwood JE, Hu Z, Gordon IJ, Yamshchikov G, Enama ME, Plummer S, Bailer R, Pearce MB, Tumpey TM, Koup RA, Mascola JR, Nabel GJ, Graham BS. Clin Vaccine Immunol. 2012 Nov;19(11):1792-7.
Global distribution and genetic diversity of Bartonella in bat flies (Hippoboscoidea, Streblidae, Nycteribiidae)
Morse SF, Olival KJ, Kosoy M, Billeter S, Patterson BD, Dick CW, Dittmar K. Infect Genet Evol. 2012 Dec;12(8):1717-23.
Genomic basis of a polyagglutinating isolate of Neisseria meningitidis
Rishishwar L, Katz LS, Sharma NV, Rowe L, Frace M, Thomas JD, Harcourt BH, Mayer LW, Jordan IK. J Bacteriol. 2012 Oct;194(20):5649-56.
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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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