Genomics & Health Impact Update
Volume 32 Number 8 February 27 - March 6, 2014Previous Issue About the Update
Features of the Week
Facing Our Risk Empowered (FORCE) annual conference, June 12-14, 2014, Philadelphia, PA
1000 Genomes Project and Beyond, June 24-26, 2014, Cambridge, UK
22nd World Congress of Psychiatric Genetics, October 12-16, 2014, Copenhagen, Denmark
Cancer: Tumors outside the mutation box.
Rogier Versteeg. Nature 19 February 2014
Detection of circulating tumor DNA in early- and late-stage human malignancies.
Bettegowda C,et al. Sci Transl Med. 2014 Feb 19;6(224):224ra24
Evidence for the importance of personalized molecular profiling in pancreatic cancer
Lili, Loukia et al. Pancreas, March 2014
Familial pancreatic cancer: genetic advances.
Rustgi AK. Genes Dev. 2014 Jan 1;28(1):1-7.
Genetic variants improve breast cancer risk prediction on mammograms.
Liu J, et al. AMIA Annu Symp Proc. 2013 Nov 16;2013:876-85. eCollection 2013.
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation
Finch AP, et al. J Clin Oncol 2014 Feb
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Laurent Castéra et al. Eur J Human Genetics February 19, 2014
Routine testing for women with ovarian cancer
Arie S. BMJ 2014;348
Should we screen BRCA1 mutation carriers only with MRI? A multicenter study
Obdeijn IM, et al. Breast Cancer Res Treat 2014 Feb
Surgical management of breast cancer in BRCA-mutation carriers: a systematic review and meta-analysis.
Valachis A Breast Cancer Res Treat. 2014 Feb 25.
Innovation, risk, and patient empowerment: The FDA-mandated withdrawal of 23andMe's personal genome service
Downing N, et al. JAMA. 2014;311(8):793-794.
Oocyte modification in assisted reproduction for the prevention of transmission of mitochondrial disease or treatment of infertility, [PDF 182.43 KB] Cellular, Tissue, and Gene Therapies Advisory Committee, FDA Briefing Document
US regulator considers science of mitochondrial replacement, by Dr Philippa Brice, PHG Foundation, Feb 24
FDA weighs fertility method that raises ethical questions, The New York Times, Feb 25
New technique can encrypt genetic data, protecting privacy while assisting biomedical research, by Meagan Phelan, American Association for Advancement of Science, Feb 17
Family health history data collection in Connecticut, [PDF 341.67 KB] Department of Public Health Connecticut, February 2014
The promise of whole-exome sequencing in medical genetics
Bahareh Rabbani et al. Journal of Human Genetics (2014) 59, 5–15
The value of genetic counseling. Genetic testing provides critical information about the genetic cause of hemophilia in a family, by Marianna H. Raia, Hemaware, Feb 2014
Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011
Morgan T, et al. JMIR Res Protoc 2014;3(1):e10
Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)
Szakszon K, et al. Orv Hetil 2014 Mar;155(9):348-57
Pilot program offers genomic testing to certain patients, by Sara Wykes, Sanford University, Feb 10
Vitamin, mineral, and multivitamin supplements for the primary prevention of cardiovascular disease and cancer: U.S. Preventive Services Task Force Recommendation Statement
Moyer V, et al. Ann Intern Med. 25 February 2014
Public views on participating in newborn screening using genome sequencing
Bombard Y, et al. Eur J Hum Genet 2014 Feb
What happens if my child receives a diagnosis through newborn screening? By Rachael Salley and Anna Eames, Genes in life blog post, Feb 20
CYP2D6 Pharmacogenomics of Tamoxifen Treatment, Technology Evaluation Center (TEC), February 2014
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for HLA-B genotype and Abacavir dosing: 2014 update
Martin MA, et al. Clin Pharmacol Ther 2014 Feb
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilization.
Bloss CS, et al. J Med Genet. 2014 Feb;51(2):83-9.
DNA sequencing versus standard prenatal aneuploidy screening
Bianchi D,et al. New England Journal of Medcine 2014 Mar 5
Screening for trisomies in circulating DNA
Greene M, et al. N Engl J Med 2014; 370:874-875 Feb 27
DNA blood test can detect prenatal problems, by Carolyn Y. Johnson, The Boston Globe, Feb 26
Test is improved predictor of fetal disorders, by Pam Belluck, The New York Times Well Blog, Feb 26
Sequencing improves rates of prenatal diagnosis, by Keren Carss, Wellcome Trust Sanger Institute Blog, Feb 21
A novel diagnostic approach may reduce inappropriate antibiotic use for acute respiratory infections. Expert Review of Anti-infective Therapy. March 2014, Vol. 12, No. 3 , Pages 279-282
Estimating genome-wide significance for whole-genome sequencing studies
ChangJiang Xu, et al. Genetic Epidemiology, January 2014
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Rico Rueedi et al. PloS Genetics, February 20, 2014
Good practice guidelines for biomarker discovery from array data: a case study for breast cancer prognosis
Cheng J, et al. BMC Syst Biol 2013;7 Suppl 4:S2
Living systematic reviews: An emerging opportunity to narrow the evidence-practice gap
Elliott J, et al. PLoS Med 11(2): e1001603.
Pathogens and host immunity in the ancient human oral cavity.
Christina Warinner et al. Nature Genetics, February 23, 2014
Whole-genome haplotyping using long reads and statistical methods.
Volodymyr Kuleshov et al. Nature Biotechnology, February 23, 2014
Demystifying disease, democratizing health care
Leroy Hood, et al. Sci Transl Med 26 February 2014: Vol. 6, Issue 225, p. 225ed5
Finding the role of health care in population health
Eggleston E, et al. JAMA. 2014;311(8):797-798.
Genetic screening: the voices that need to be heard, by Anna Middleton, Wellcome Trust Sanger Institute Blog, Feb 24
Nicotinic acetylcholine receptors in human genetic disease.
Christian P. Schaaf, Genetics in Medicine, February 20, 2014
Genetic privacy and right to know in the whole-genome era, Mass Genomics, Feb 27
How well did you sequence that genome?' NIST, consortium partners have answer, from NIST Tech Beast, Feb 25
Welcome to the $1,000 genome, Biome, Feb 25
Targeted RNA sequencing approaches, by Dale Yuzuki, Feb 24
A sunset for draft genomes? Omic Omic Blog, Feb 24
Reductionism! Determinism! Straw-man-ism! By Kevin Mitchell, Wiring the Brain, Feb 23
Is genetic testing humans playing God? By Robert Klitzman, CNN Feb 22
Personalized cancer treatment, from just a blood sample, by Lauren Gravitz, Discovery Magazine, Feb 21
Exon Skipping: Borrowing from Nature to Treat Rare Genetic Diseases, by Ricki Lewis, PLoS Blogs, Feb 20
Challenges and solutions for genomics in the age of big data, by Daniel Gutierrez, Inside Big Data, Feb 19
Making up “persons” in personalized medicine with metabolomics, by Nadine Levin, Somatosphere blog, Feb 19
Mining big data is more than just digging a hole, by John Pitsikoulis, ICD10 Monitor , Feb 18
The HuGENavigator database now has almost 90K publications including ~2750 genomewide association studies & > 5500 meta analyses
The GAPP Finder of the GAPPKb database now has 547 genomic tests that have been suggested for use in clinical research and practice. Check it out
The Cancer Genomics and Epidemiology Navigator provides regularly updated linked information on NCI-funded cancer epidemiology & genomics research grants, peer-reviewed publications, and evidence-based cancer genomic tests
CGPredictor: a systematic integrated analytic tool for mining and examining genome-scale cancer independent prognostic epigenetic marker panels
Cheng WS & Chiang JH BMC Syst Biol 2013;7 Suppl 6:S10
VAMPS: a website for visualization and analysis of microbial population structures
Huse S, et al. BMC Bioinformatics 2014, 15:41
CDC authors are indicated in bold
Deep sequencing of viral genomes provides insight into the evolution and pathogenesis of varicella zoster virus and its vaccine in humans
Depledge DP, Kundu S, Jensen NJ, Gray ER, Jones M, Steinberg S, Gershon A, Kinchington PR, Schmid DS, Balloux F, Nichols RA, Breuer J. Mol Biol Evol. 2014 Feb;31(2):397-409.
Evaluation of automated and manual DNA purification methods for detecting Ricinus communis DNA during ricin investigations
Hutchins AS, Astwood MJ, Saah JR, Michel PA, Newton BR, Dauphin LA. Forensic Sci Int. 2014 Mar;236C:10-15.
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