Genomics & Health Impact Update
Volume 31 Number 18 November 7 - 14, 2013About the Update
Contents of the week
Healthy People 2020 Spotlight on Health Webinar: Type 2 Diabetes Prevention, Webinar, November 13
New Developments with Primary Immunodeficiency Disorders. The Jeffrey Modell Diagnostic and Research Program for Primary Immunodeficiency Disorders at Children’s Hospital, Los Angeles, CA, November 22
Bio-IT World and Cambridge Healthtech Institute- Clinical Exome Sequencing Changing the Nature of Genetic Diagnosis, Lisbon, Portugal, December 4-5
New England Regional Genetics Group Annual Meeting, Portsmouth, NH, December 5-6
NIH funding announcement: Analysis of genome-wide gene-environment (G x E) interactions
NIH to fund studies of whole genome, environmental data, Genome Web, Nov 1
MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer
Grant KA, et al. S Afr Med J 2013 Aug;103(8):522-6
The characteristics of breast cancer subtypes: Implications for treatment guidelines and individualized treatment strategies in China.
Zheng S, et al. Appl Immunohistochem Mol Morphol. 2013 Oct 24.
The frequency and outcome of breast cancer risk-reducing surgery in Finnish BRCA1 and BRCA2 mutation carriers
Koskenvuo L, et al. Scand J Surg 2013 Oct
Personalised cancer medicine: new genetic tests to aid care, PHG Foundation, Nov 6
Lynch syndrome in Ireland: A missed opportunity for cancer prevention? by kjmonahan, The Family History of Bowel Cancer Clinic, Oct 25
A pilot study using next-generation sequencing in advanced cancers: Feasibility and challenges
Weiss G, et al. PLoS One 8(10): e76438.
Study shows ability to do next-generation sequencing for patients with advanced cancers, Medical Xpress, Oct 30
A genomics-based classification of human lung tumors
Buttner R, et al. Science Translational Medicine 2013 Oct 30
Gene testing may boost lung cancer survival: Study, Health Day, Oct 30
German Ethics Council on genetic diagnostics: trend setting?
Buechner B Eur J Hum Genet 2013 Oct
Participants' recall and understanding of genomic research and large-scale data sharing
Robinson JO, et al. J Empir Res Hum Res Ethics 2013 Oct;8(4):42-52
FDA helping to advance treatments tailored to you [PDF 227.67 KB], FDA Consumer Health Information, Oct 2013
Preparing for personalised medicine in the US, PHG Foundation, Nov 5
Personalized Medicine: The Future is Now, FDA Voice, Nov 1
Judge invalidates patent for a Down syndrome test, by Andrew Pollack, New York Times, Oct
Genethics articles update, Genethics.ca, Nov
Adult genetic risk screening
Caskey CT, et al. Annu Rev Med 2013 Nov
Identifying individuals who might benefit from genetic services and information.
Chris Jacobs et al. Nursing Standard, 30 Oct 2013
CMO's annual report 2012: Our children deserve better, UK Department of Health, November 2013
The role of genomics in improving child health, PHG Foundation, Oct 31
Genomic testing to determine drug response: measuring preferences of the public and patients using Discrete Choice Experiment (DCE)
Najafzadeh M, et al. BMC Health Serv Res 2013 Oct;13(1):454
Newborn screening for Glutaric Aciduria-II: The New England experience
Sahai I, et al. JIMD Rep 2013 Nov
Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study
Somech R, et al. Isr Med Assoc J 2013 Aug;15(8):404-9
Reduction in newborn screening metabolic false-positive results following a new collection protocol.
Mindy Morris et al. Genetics in Medicine, Oct 31
Systematic data collection to inform policy decisions: integration of the Region 4 Stork (R4S) collaborative newborn screening database to improve MS/MS newborn screening in Washington State
Fleischman A, et al. JIMD Rep 2013 Nov
Inborn error testing: Immunodeficiency disease added to newborn screening program, Spectroscopy Now, Steve Down, Nov 1, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.
Paul Daniel Brady et al. Genetics in Medicine, October 31
Non-invasive prenatal testing for Down's syndrome in the UK, by Dr Philippa Brice, PHG Foundation, Nov 1
Classifying married adults diagnosed with Alpha-1 antitrypsin deficiency based on spousal communication patterns using latent class analysis: insights for intervention
Smith RA, et al. J Genet Couns 2013 Nov
Inference of the genetic architecture underlying BMI and height with the Use of 20,240 sibling pairs.
Gibran Hemani et al. Am J Hum Genetics, Oct 31
ELF4 is critical for induction of type I interferon and the host antiviral response.
Fuping You et al. Nature Immunology, Nov 3
Understanding who is most susceptible to West Nile virus, by Helen Dodson, Yale News, Nov 3
"N of 1" case reports in the era of whole-genome sequencing.
Brannon AR, Sawyers CL. J Clin Invest. 2013 Nov 1;123(11):4568-70.
Advances in the genomics of common eye diseases.
Cooke Bailey JN, et al. Hum Mol Genet. 2013 Oct 15;22(R1):R59-65.
Familial hypercholesterolemia in Endocrine Today, FH Foundation, Nov 5
Preparing for personalised medicine in the US, by Dr Philippa Brice, PHG Foundation, Nov 5
ASHG 2013: Mo tissue, mo transcriptomics, and mo single cell transcriptomics, NextGenSeq, Nov 4
Data curveballs and variant strikeouts: Genome Biology plays the perfect game at American Society for Human Genetics 2013, by Naomi Attar, BioMedCentral blog, Oct 31
Getting your microbes analyzed raises big privacy issues, by Rob Stein, National Public Radio, Nov 4
Genetic diversity in the brain. Neurons within a person’s brain exhibit striking variations in DNA copy number, By Ruth Williams, The Scientist, Oct 31
White paper: The guide to the future of medicine- bringing disruptive technologies to medicine healthcare, by B Mesko, Oct 2013
FunSeq for cancer genomics.
Orli Bahcall. Nature Genetics, Oct 29
The database of genomic variants: a curated collection of structural variation in the human genome
Macdonald JR, et al. Nucleic Acids Res 2013 Oct
CDC authors are indicated in bold
Development of a reverse genetics system to generate recombinant Marburg virus derived from a bat isolate
Albarino CG, Uebelhoer LS, Vincent JP, Khristova ML, Chakrabarti AK, McElroy A, Nichol ST, Towner JS. Virology. 2013 Nov;446(1-2):230-7.
Prevalence and characterization of Cryptosporidium spp. in dairy cattle in Nile River delta provinces, Egypt.
Amer S, Zidan S, Adamu H, Ye J, Roellig D, Xiao L, Feng Y. Exp Parasitol. 2013 Nov;135(3):518-23.
Isolation and molecular characterization of Fikirini rhabdovirus, a novel virus from a Kenyan bat.
Kading RC, Gilbert AT, Mossel EC, Crabtree MB, Kuzmin IV, Niezgoda M, Agwanda B, Markotter W, Weil MR, Montgomery JM, Rupprecht CE, Miller BR. J Gen Virol. 2013 Nov;94(Pt 11):2393-8.
Real-time RT-PCR assay to differentiate clades of H5N1 avian influenza viruses circulating in Vietnam.
Kis Z, Jones J, Creanga A, Ferdinand K, Inui K, Gerloff N, Davis CT, Nguyen T, Donis RO. J Virol Methods. 2013 Nov;193(2):452-8.
Molecular resistance mechanisms of macrolide-resistant invasive streptococcus pneumoniae isolates from Alaska, 1986 to 2010.
Rudolph K, Bulkow L, Bruce M, Zulz T, Reasonover A, Harker-Jones M, Hurlburt D, Hennessy T. Antimicrob Agents Chemother. 2013 Nov;57(11):5415-22.
Joint effects between five identified risk variants, allergy, and autoimmune conditions on glioma risk
Safaeian M, Rajaraman P, Hartge P, Yeager M, Linet M, Butler MA, Ruder AM, Purdue MP, Hsing A, Beane-Freeman L, Hoppin JA, Albanes D, Weinstein SJ, Inskip PD, Brenner A, Rothman N, Chatterjee N, Gillanders EM, Chanock SJ, Wang SS. Cancer Causes Control. 2013 Oct;24(10):1885-91.
Absence of high molecular weight proteins 1 and/or 2 is associated with decreased adherence among non-typeable Haemophilus influenzae clinical isolates.
Vuong J, Wang X, Theodore JM, Whitmon J, Gomez de Leon P, Mayer LW, Carlone GM, Romero-Steiner S. J Med Microbiol. 2013 Nov;62(Pt 11):1649-56.
Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations.
Yucesoy B, Talzhanov Y, Johnson VJ, Wilson NW, Biagini RE, Wang W, Frye B, Weissman DN, Germolec DR, Luster MI, Barmada MM. Vaccine. 2013 Nov 4;31(46):5381-91.
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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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