Genomics & Health Impact Update
Volume 31 Number 21 November 27 - December 5, 2013About the Update
Contents of the week
- Gather & Share Your Family Health History
- Direct to Consumer Genetic Testing
- CDC Winnable Battles & Genomics
- Implementation of Genomic Medicine
- Diabetes Management & Family History
- November is COPD Awareness Month
- Evidence-based Pharmacogenomics
- Antibiotic Resistance
- The Human Genome Epidemiology
AACR-Prostate Cancer Foundation Conference Advances in Prostate Cancer Research
January 18-21 ~ San Diego, CA
Evaluating Genomic Evidence for Medical Decision-Making: A Workshop
February 3, Washington, DC
Molecular Med Tri-Con 2014
February 9-14 ~ San Francisco, CA
The Agency for Healthcare Research and Quality's (AHRQ) Technology Assessment Program will be posting a draft technology assessment for review on November 26, 2013. This draft is entitled “Technology Assessment of Genetic Testing for Risk of Recurrent Cancer.”
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing.
Frampton GM, et al. Nat Biotechnol. 2013 Nov;31(11):1023-31.
Topol: Cancer mutation screening 'grossly insufficient',Medscape, Nov 25 [by free subscription only]
ER and PR immunohistochemistry and HER2 FISH versus Oncotype DX: Implications for breast cancer treatment
Park MM, et al. Breast J 2013 Nov
Molecular phenotypes in triple negative breast cancer from African American patients suggest targets for therapy
Lindner R, et al. PLoS One 2013;8(11):e71915
Risk-reducing mastectomy in BRCA1/2 mutation carriers: Factors influencing uptake and timing
van Driel CM, et al. Maturitas 2013 Nov
Seeking balance: Decision support needs of women without cancer and a deleterious BRCA1 or BRCA2 mutation
Underhill ML & Crotser CB J Genet Couns 2013 Nov
An ethics safe harbor for international genomics research?
Dove ES, et al. Genome Med 2013 Nov;5(11):99
First FDA authorization for next-generation sequencer
Collins FS, Hamburg MA. N Engl J Med. 2013 Nov 19.
FDA approves first next-gen genome sequencer for clinical use, PHG Foundation, Nov 21
Personal Genome Project: Public comments on NIH draft genomic data sharing policy, Personal Genome Project blog, Nov 21
Genomics—from the lab to clinical practice
Godlee F BMJ 2013;347:f7103
A prognostic test to predict the risk of metastasis in uveal melanoma based on a 15-gene expression profile
Harbour JW Methods Mol Biol 2014;1102:427-40
The use of chromosomal microarray analysis in prenatal diagnosis,American College of Obstetricians and Gynecologists, Dec 2013
Newborn screening for Hunter disease: A small-scale feasibility study
Ruijter GJ, et al. JIMD Rep 2013 Nov
Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
Theda C, et al. Mol Genet Metab 2013 Nov
Parental decision-making and acceptance of newborn bloodspot screening: An exploratory study
Nicholls SG & Southern KW PLoS One 2013;8(11):e79441
Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing
Van Driest SL, et al. Clin Pharmacol Ther 2013 Nov
Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening
Ioannou L, et al. Eur J Hum Genet 2013 Nov
A rural community's involvement in the design and usability testing of a computer-based informed consent process for the personalized medicine research project
Mahnke AN, et al. Am J Med Genet A 2013 Nov
Finnish diabetes risk score to predict type 2 diabetes in the Isfahan diabetes prevention study
Janghorbani M, et al. Diabetes Res Clin Pract 2013 Nov
Genetic services and attitudes in primary care pediatrics
Rinke ML, et al. Am J Med Genet A 2013 Nov
Primary immunodeficiency in south China: clinical features and a genetic subanalysis of 138 children
Zeng H, et al. J Investig Allergol Clin Immunol 2013;23(5):302-8
Risk factors for the progression of cystic fibrosis lung disease throughout childhood
Sanders DB, et al. Ann Am Thorac Soc 2013 Nov
Rule-based models of the interplay between genetic and environmental factors in childhood allergy.
Susanne Bornelöv et al, PloS One, Nov 19
Success in public health genomics: beyond the ACCE criteria
Modell SM Public Health 2013 Nov
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Denny JC, et al. Nat Biotechnol. 2013 Nov 24.
Reproducibility: The risks of the replication drive.
Mina Bissell Nature, 20 Nov 2013
New UK strategy for rare diseases,PHG Foundation, Nov 27
Genomics England outlines progress and addresses questions,PHG Foundation, Nov 26
Why big data is bad for science,by Tom Siegfried, Science News, Nov 26
5 myths of genomic medicine,by Theral Timpson, Mendels Pod, Nov 25
Analysis of huge data sets will reshape health care, by Kelly Kennedy, USA TODAY, Nov 24
Epigenetic changes may explain chronic kidney disease,ScienceNews Daily, Nov 23
100,000 whole genomes to be sequenced by 2017,Genomics England, Nov 22
Prof Mark Caulfield… reflects on the impact the 100K Genome Project could have on the NHS,Genomics England, Nov 22
NIH mouse study finds gut microorganisms may determine cancer treatment outcome,NIH News and Events, Nov 21
My cancer story, my genes, my information,by Joanna Rudnick, Huffington Post, Nov 19
Prevention first: Invest in public health to make the ACA successful,by D Klein Walker, Huffington Post, Oct 7
CDC authors are indicated in bold
Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions
Mueller PW, Lyons J, Kerr G, Haase CP, Isett RB. Genet Med. 2013 Nov;15(11):910-1.
Prevalence and molecular characterization of pertactin-deficient Bordetella pertussis in the US.
Pawloski LC, Queenan AM, Cassiday PK, Lynch AS, Harrison M, Shang W, Williams MM, Bowden KE, Burgos-Rivera B, Qin X, Messonnier N, Tondella ML. Clin Vaccine Immunol. 2013 Nov 20.
Internal transcribed spacer rRNA gene sequencing analysis of fungal diversity in Kansas City indoor environments.
Rittenour WR, Ciaccio CE, Barnes CS, Kashon ML, Lemons AR, Beezhold DH, Green BJ. Environ Sci Process Impacts. 2013 Nov 20.
Hepatitis A virus: host interactions, molecular epidemiology and evolution
Vaughan G, Goncalves Rossi LM, Forbi JC, de Paula VS, Purdy MA, Xia G, Khudyakov YE. Infect Genet Evol. 2013 Nov 5.
Simultaneous detection of major drug resistance mutations in the protease and reverse transcriptase genes for HIV-1 subtype C by use of a multiplex allele-specific assay
Zhang G, Cai F, Zhou Z, Devos J, Wagar N, Diallo K, Zulu I, et al. J Clin Microbiol. 2013 Nov;51(11):3666-74.
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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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