Genomics & Health Impact Update
Volume 32 Number 12 March 27 - April 3, 2014About the Update
Features of the Week
Advancing regulatory science for high throughput sequencing devices for microbial identification and detection of antimicrobial resistance markers FDA workshop
April 1 ~ Silver Spring, MD
CDC Webinar: New Challenges in Hemophilia [PDF 550.57 KB]
April 3 @ 2PM EST ~ Webinar
Lynch Syndrome Reunion,
June 21 ~ Orlando, FL
2014 APHL Newborn Screening and Genetic Testing Symposium
October 27-30 ~ Anaheim, CA
Core Infrastructure and Methodological Research for Cancer Epidemiology Cohorts, National Cancer Institute March 19, 2014
Genomics and Health Informatics Fellowship, CDC Division of Laboratory Programs, Standards and Services
Ceritinib in ALK-rearranged non–small-cell lung cancer
Shaw A, et al. N Engl J Med 2014; 370:1189-1197March 27, 2014
Clinical applications of melanoma genetics
Gabree M, et al. Curr Treat Options Oncol 2014 Mar
Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA
Alain R Thierry et al. Nature Medicine, March 23, 2014
Comparative genomic hybridisation array and DNA sequencing to direct treatment of metastatic breast cancer: a multicentre, prospective trial (SAFIR01/UNICANCER)
André F, et al. The Lancet Oncology, Volume 15, Issue 3, Pages 267 - 274, March 2014
Low response in metastatic breast cancer study despite precision approach shows real world challenge, Genome Web, Mar 25 [by free subscription only]
Evaluation and correlation of risk recurrence in early breast cancer assessed by Oncotype DX, clinicopathological markers and tumor cell dissemination in the blood and bone marrow
Aktas B, et al. Mol Clin Oncol 2013 Nov;1(6):1049-54
Physicians' attitudes about multiplex tumor genomic testing
Gray SW, et al. J Clin Oncol 2014 Mar 24
Pretreatment selection of regimen according to genetic analysis improves the efficacy of chemotherapy in the first line treatment of metastatic colorectal cancer
Kim do Y, et al. J Surg Oncol 2014 Mar;109(3):250-4
Genetic counseling practice in next generation sequencing research: Implications for the ethical oversight of the informed consent process
Egalite N, et al. J Genet Couns 2014 Mar
Affordable Care Act to cover chemoprevention for women at high risk for breast cancer, by Alice Goodman, ASCO Post, Mar 15
Informing relatives about their hereditary or familial cancer risk: study protocol for a randomized controlled trial
de Geus E, et al. Trials 2014 Mar;15(1):86
Evaluation of a clinical genetics service - a quality initiative
Elliott AM, et al. J Genet Couns 2014 Mar
Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: a systematic review and cost-effectiveness analysis
Whiting P, et al. Health Technol Assess 2014 Mar;18(18):1-106
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing
Miller CE, et al. Am J Med Genet A 2014 Mar
Genetic testing and type 2 diabetes risk awareness
de Groot M & Wessel J Diabetes Educ 2014 Mar
Genetic testing of children for predisposition to mood disorders: Anticipating the clinical issues
Erickson JA, et al. J Genet Couns 2014 Mar
Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death
Erskine KE, et al. J Genet Couns 2014 Mar
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Alford RL, et al. Genet Med 2014 Mar
A horizon-prioritizing method can identify gaps among genomic application guidelines.
L Li Clinical Pharmacology & Therapeutics (2014); 95 4, 368–369
Strengthening the reporting of molecular epidemiology for infectious diseases (STROME-ID): an extension of the STROBE statement
Field N, et al. Lancet Infect Dis 14 March 2014.
Screening for cognitive impairment in older adults: U.S. Preventive Services Task Force Recommendation Statement. Task Force finds insufficient evidence for routine screening.
Virginia A. Moyer et al. Annals of Internal Medicine, March 25, 2014
Society of Gynecologic Oncology New Guidelines (March 2014)
SGO updates hereditary cancer recommendations, The Wall Street Journal, Mar 20
Genomic counseling in the newborn period: Experiences and views of genetic counselors
Nardini MD, et al. J Genet Couns 2014 Mar
Whole-genome sequencing in newborn screening programs
Knoppers B, et al. Sci Transl Med 26 March 2014: Vol. 6, Issue 229, p. 229cm2
Should whole-genome sequencing become part of newborn screening? Science Daily, Mar 26
Newborn Screening: US And UK, Orphan Druganaut Blog, Mar 24
A national perspective on prenatal testing for mitochondrial disease
Nesbitt V, et al. Eur J Hum Genet 2014 Mar
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
Porreco RP, et al. Am J Obstet Gynecol 2014 Mar
Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate.
Benjamin Georgi, et al. PLOS Genetics, March 2014
Prediction of Staphylococcus aureus antimicrobial resistance by whole-genome sequencing
Gordon NC, et al. J Clin Microbiol 2014; 52: 1182-1191
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
Vassy JL, et al. Trials 2014 Mar;15(1):85
Testing for measured gene-environment interaction: Problems with the use of cross-product terms and a regression model reparameterization solution.
Aliev F, Latendresse SJ et al. Behav Genet. 2014 Mar
Perspective: The calculus of cures.
Robert Kocher and Bryan Roberts NEJM February, 2014
In 2013, the Food and Drug Administration (FDA) approved 27 new drugs for marketing. Eight of these drugs are for rare diseases
Open window: when easily identifiable genomes and traits are in the public domain
Angrist M PLoS One 2014;9(3):e92060
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Matthew Might et al. Genetics in Medicine, March 20, 2014
Mutations explain poor showing of 2012 flu vaccine, by Declan Butler, Nature News, Mar 27
Blog post on leveraging resources to discover & validate biomarkers for early cancer detection, NCI Epidemiology, March 25, 2014
Calls for more personalised breast cancer screening, PHG Foundation, Mar 24
The great FH debate: Reinforcing the fact that “time is plaque”, by Seth Baum, Mar 24
Laying a solid foundation for Manhattan – ‘setting the functional basis for the post-GWAS era’.
Xiaoyang Zhang et al. Trends in Genetics, March 22, 2014
Sudden death. Proposed EKG screening for student athletes spurs medical debate, by Laura Beil, Science News, Mar 21
Circulating tumor DNA: A new generation of cancer biomarkers, by Elizabeth Burke, National Human Genome Research Institute, Mar 20
‘Genetic revolution’ enters new phase with help from Watson, by Robert Darnell, Mar 19
More on big data training for the scientific workforce, by Sally Rockey , NIH Extramural nexus, Mar 18
Institute of Medicine: Conflict of interest and medical innovation: ensuring integrity while facilitating innovation in medical research, Workshop Summary, March 21, 2014
Genetics clinic of the future: The living room, by Alice Green, DNA Digest, Feb 2014
openSNP-A crowdsourced web resource for personal genomics
Greshake B, et al. PLoS One 2014;9(3):e89204
Did you know? The HuGENavigator has searchable information on >90000 papers, >2700 genomewide association studies, >12000 genes &>2600 diseases
Did you know? The NIH Genetic Testing Registry now has information on 9,000 conditions, 15,000 tests and 75,000 variants
CDC authors are indicated in bold
Strengthening the Reporting of Molecular Epidemiology for Infectious Diseases (STROME-ID): an extension of the STROBE statement.
Field N, Cohen T, Struelens MJ, Palm D, Cookson B, Glynn JR, Gallo V, Ramsay M, Sonnenberg P, Maccannell D, Charlett A, Egger M, Green J, Vineis P, Abubakar I. Lancet Infect Dis. 2014 Mar 13. pii: S1473-3099(13)70324-4.
Comparative review of Francisella tularensis and Francisella novicida.
Kingry LC, Petersen JM. Front Cell Infect Microbiol. 2014 Mar 13;4:35.
Q&A: Muin Khoury on cancer epidemiology.
Khoury MJ, Rose S. Cancer Discov. 2014 Feb;4(2):140.
Molecular surveillance of rotavirus infection in the Democratic Republic of the Congo August 2009 to June 2012.
Pukuta ES, Esona MD, Nkongolo A, Seheri M, Makasi M, Nyembwe M, Mondonge V, Dahl BA, Mphahlele MJ, Cavallaro K, Gentsch J, Bowen MD, Waku-Kouomou D, Muyembe JJ; SURVAC Working Group. Pediatr Infect Dis J. 2014 Apr;33(4):355-9.
Characterization of Clostridium botulinum strains producing BoNT/F4 or BoNT/F5.
Raphael BH, Bradshaw M, Kalb SR, Joseph LA, Lúquez C, Barr JR, Johnson EA, Maslanka SE. Appl Environ Microbiol. 2014 Mar 14.
Using Mitochondrial Genome Sequences to Track the Origin of Imported Plasmodium vivax Infections Diagnosed in the United States.
Rodrigues PT, Alves JM, Santamaria AM, Calzada JE, Xayavong M, Parise M, da Silva AJ, Ferreira MU. Am J Trop Med Hyg. 2014 Mar 17.
Rapid strategy for screening by pyrosequencing of influenza virus reassortants - candidates for live attenuated vaccines.
Shcherbik SV, Pearce NC, Levine ML, Klimov AI, Villanueva JM, Bousse TL. PLoS One. 2014 Mar 19;9(3):e92580.
Real-time PCR assays for detection of Brucella spp. and the identification of genotype ST27 in bottlenose dolphins (Tursiops truncatus).
Wu Q, McFee WE, Goldstein T, Tiller RV, Schwacke L. J Microbiol Methods. 2014 Mar 13. pii: S0167-7012(14)00073-6.
Concordance between molecular and phenotypic testing of Mycobacterium tuberculosis complex isolates for resistance to rifampin and isoniazid in the United States.
Yakrus MA, Driscoll J, Lentz AJ, Sikes D, Hartline D, Metchock B, Starks AM. J Clin Microbiol. 2014 Mar 19.
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