Genomics & Health Impact Update
Volume 32 Number 19 May 15-22, 2014About the Update
Features of the Week
Genetics Symposium: A Spectrum of Perspectives: Native Peoples and Genetic Research
June 23 ~ Washington, DC
5th Annual International Science of Team Science (SciTS) Conference
August 6-8, 2014 ~ Austin, TX
15th International Conference on Human Genome Variation and Complex Genome Analysis (HGV2014)
September 17–19, 2014 ~ Belfast, Northern Ireland
Whole blood gene expression profile associated with spontaneous preterm birth in women with threatened preterm labor
Hen YJ, et al. PLoS One 2014 May 14
Novel blood test may help predict impending preterm birth, Science Daily, May 14
Blood test predicts if false labor is headed for delivery room, by Nathan Seppa, Science News, May 15
Enabling a genetically informed approach to cancer medicine: A retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel
Johnson DB, et al. Oncologist 2014 May
Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing
Sharma P, et al. Breast Cancer Res Treat 2014 May
Influence of a genomic classifier on postoperative treatment decisions in high-risk prostate cancer patients: Results from the PRO-ACT study
Michalopoulos SN, et al. Curr Med Res Opin 2014 May
Patient-reported hereditary breast and ovarian cancer in a primary care practice.
Quillin JM, et al. J Community Genet. 2014 Apr;5(2):179-83.
Predictors that influence contralateral prophylactic mastectomy election among women with ductal carcinoma in situ who were evaluated for BRCA genetic testing
Elsayegh N, et al. Ann Surg Oncol 2014 May
Prostate Cancer (PCa) risk variants and risk of fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.
Shui IM, et al. Eur Urol. 2014 Jun;65(6):1069-75.
Genetic variants in predicting aggressive prostate cancer: “Ready for prime time?”
Adriana C. Vidal et al. European Urology: 01 June 2014
Gene expression analysis for prostate cancer management, Blue Cross Blue Shield Health Technology Assessment Report, May 2014
"Would you test your children without their consent?"
Brierley KL, et al. Fam Cancer 2014 May
Return of genomic results to research participants: The floor, the ceiling, and the choices in between
Jarvik GP, et al. Am J Hum Genet 2014 May
Routes for breaching and protecting genetic privacy
Yaniv Erlich et al. Nature Reviews Genetics, May 8, 2014
International code of conduct for genomic and health-related data sharing, Global Alliance on Genomics & Health, May 5
Development and validation of a family history screening questionnaire in Australian primary care
Emery JD, et al. Ann Fam Med 2014 May-2014 Jun;12(3):241-9
Dynamics and associations of microbial community types across the human body
Ding T, Schloss PD. Nature 2014; 509:357-360.
Lung microbiota promotes tolerance to allergens in neonates via PD-L1.
Eva S Gollwitzer et al. Nature Medicine, May 11, 2014
The evolutionary dynamics of variant antigen genes in Babesia reveal a history of genomic innovation underlying host–parasite interaction
Jackson AP, et al. Nucl Acids Res, May 5, 201
Visualizing the ocular microbiome
Shaikh-Lesko R. The Scientist, May 12, 2014.
Virus discovery: are we scientists or genome collectors?
Canuti M, van der Hoek L. Trends Microbiol. 2014 May;22(5):229-31.
Microbiome therapy gains market traction, by Sara Reardon, Nature News, May 13
Weighing the benefits of expanded newborn screening, by Philippa Brice, PHG Foundation, May 12
Four rare diseases added to newborn screening, National Health Service, UK, May 9
Newborn babies to be tested for rare diseases, BBC News, May 9
Minnesota to resume storing newborn blood samples. Law allows researchers to retain blood spots indefinitely, overriding a court ruling.
Sara Reardon Nature news, 09 May 2014
How common are drug and gene interactions? Prevalence in a sample of 1143 patients with CYP2C9, CYP2C19 and CYP2D6 genotyping
Verbeurgt P, et al. Pharmacogenomics 2014 Apr;15(5):655-65
Clinical informatics: Prospects for a new medical subspecialty
Don E. Detmer et al. JAMA, May 13, 2014
Distinguishing between “function” and “effect” in genome biology.
W. Ford Doolittle et al. Genome Biology & Evolution, May 8, 2014
Epigenetics: Obesity paves the highway for colon cancer
Simon W. Beaven et al. Sci Transl Med 7 May 2014
The biology and genetics of obesity — a century of inquiries
Jou C, et al. N Engl J Med 2014; 370:1874-1877 2014 May 15
IOM releases new report: Improving the efficiency and effectiveness of genomic science translation - workshop summary
Improving diagnosis and care for inherited heart conditions, by Dr Philippa Brice, PHG Foundation, May 15
Your DNA enters the digital age: Q&A with NIH director, USA Today, May 15
Phase II feasibility study tests four molecular-based hypotheses in advanced colorectal cancer, by Matthew Stenger, ASCO Post, May 13
Health of the nation: why genomics must be made to deliver, PHG Foundation, May 8
New genomics technique could improve treatment and control of malaria,Wellcome Trust, May 8
NHGRI video: Dir. Eric Green discusses biomedical big data, You Tube, Apr 23
Is genetic information different? Lively NHGRI video debate at the Smithsonian (2014)
An atlas of genetic influences on human blood metabolites
Shin SY, et al. Nature Genetics 2014 May 11
New atlas of molecules paves the way for improved understanding of metabolic diseases, Medical Xpress, May 11
PhenX: Managing the mass of measures: Real people's real data, webinar, Genetic Alliance, May 12
Genomics and precision oncology: What's a targeted therapy for cancer? An updated list of approved drugs from the National Cancer Institute (April, 2014)
CDC authors are indicated in bold
Detection of Rickettsia rickettsii, Rickettsia parkeri, and Rickettsia akari in skin biopsy
specimens using a multiplex real-time PCR assay
Amy M. Denison, Bijal D. Amin, William L. Nicholson, and Christopher D. Paddock Clin Infect Dis, May 14, 2014.
Trichomonas vaginalis metronidazole resistance is associated with single nucleotide polymorphisms in the nitroreductase genes ntr4Tv and ntr6Tv
Paulish-Miller TE, Augostini P, Schuyler JA, Smith WL, Mordechai E, Adelson ME, Gygax SE, Secor WE, Hilbert DW. Antimicrob Agents Chemother. 2014 May;58(5):2938-43.
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