Volume 33 Number 7 August 21-28, 2014About the Update
Why We Can't Wait: 2014 Conference to Eliminate Health Disparities in Genomic Medicine- the role of policy
September 4-5 ~ Washington, DC
Association for State and Territorial Health Officials Annual Meeting and Policy Summit.
September 9-11, 2014 ~ Albuquerque, NM
Large pragmatic studies to evaluate patient-centered outcomes – Winter 2015 Cycle, Patient Centered Outcomes Research Institute
Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia
Michael R. DeBaun, et al. N Engl J Med 2014; 371:699-710 August 21, 2014
More blood for sickle cell anemia?
Martin H. Steinberg, N Engl J Med 2014; 371:775-776 August 21, 2014
Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)
Cuccaro ML, et al. Am J Med Genet A 2014 Aug
Somatic mutations in cerebral cortical malformations
Saumya S. Jamuar et al. New England Journal Medicine, August 20, 2014
Approaches to integrating germline and tumor genomic data in cancer research
Feigelson HS, et al. Carcinogenesis 2014 Aug
BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation
Sussner KM, et al. J Genet Couns 2014 Aug
Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice
Selkirk CG, et al. Fam Cancer 2014 Aug
Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
Alexandra J van den Broek et al. Eur J Human Genetics, August 20, 2014
Factors influencing Oncotype DX use in the management of early breast cancer: A single centre experience
Zhu X, et al. Eur J Cancer 2014 Aug
Routine assessment of psychosocial problems after cancer genetic counseling: Results from a randomized controlled trial
Eijzenga W, et al. Clin Genet 2014 Aug
The relationship between the belief in a genetic cause for breast cancer and bilateral mastectomy
Petrie KJ, et al. Health Psychol 2014 Aug
Cancer and the secrets of your genes, by Theodora Ross, New York Times, Aug. 16
Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives
Gupte M, et al. J Genet Couns 2014 Aug
Personalized preventive medicine: Genetics and the response to regular exercise in preventive interventions.
Claude Bouchard et al. Progress in Cardiovascular Disease, August 13, 2014
The genetic basis for aortic aneurysmal disease.
Saratzis A, Heart. 2014 Jun;100(12):916-22.
Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project
Allen NL, et al. Mayo Clin Proc 2014 Jun;89(6):738-46
Knowing who to trust: exploring the role of 'ethical metadata' in mediating risk of harm in collaborative genomics research in Africa
de Vries J, et al. BMC Med Ethics 2014 Aug;15(1):62
Managing the ethical challenges of next-generation sequencing in genomic medicine
Clarke AJ Br Med Bull 2014 Aug
23andMe moves to mend fences with FDA, seeks Bloom syndrome test approval, by Meredith Knight, Genetic Literacy Project, Aug 19
Genethics article update: August 2014, by Stuart Nicholls
Activated protein C resistance assay and factor V Leiden
Pruller F, et al. N Engl J Med 2014 Aug;371(7):685-6
Use of a patient-entered family health history tool with decision support in primary care: Impact of identification of increased risk patients on genetic counseling attendance
Buchanan AH, et al. J Genet Couns 2014 Aug
Using familial information for variant filtering in high-throughput sequencing studies
Melanie Bahlo et al. Human Genetics, August 7, 2014
Increasing focus on nanopore DNA sequencing, by Rebecca Burbidge, PHG Foundation, Aug 19
Genetic counseling: What is it? And who needs it? By Rhonda Reinhart, Genome Magazine, Aug 18
New genetic test helps identify some mystery illnesses, by Meredith Cohn, Baltimore Sun, Aug 16
Both Lewis and secretor status mediate susceptibility to rotavirus infections in a rotavirus genotype dependent manner
Nordgren J, et al. Clin Infect Dis, Aug 5, 2014.
IFNL4-ΔG genotype is associated with slower viral clearance in hepatitis C, genotype-1 patients treated with sofosbuvir and ribavirin
Meissner EG, et al. J Infect Dis 2014; 209 (11): 1700-1704.
A proteomics approach to the identification of plasma biomarkers for latent tuberculosis infection
Zhang X, et al. Diag Microbiol Infect Dis 2014; 79(4): 432-437.
Development and validation of a new HPV genotyping assay based on next-generation sequencing
Yi X, et al. Am J Clin Path 2014; 141: 796-804.
Comprehensive identification of single nucleotide polymorphisms associated with beta-lactam resistance within pneumococcal mosaic genes
Chewapreecha C, et al. PLoS Genet 2014; 10(8): e1004547.
Pre-Columbian mycobacterial genomes reveal seals as a source of New World human tuberculosis
Kirsten I. Bos, et al. Nature, August 20, 2014
Black plague modified human genes, no biotech needed, by Ben Locwin, Genetic Literacy Project, Aug 21
Therapeutic prospects for CRISPR genome editing, by Dr Philippa Brice, PHG Foundation, Aug 21
Real time genomic epidemiology comes to England, by Dr Leila Luheshi, PHG Foundation, Aug 20
Resistance genes mapped
Nature, Aug 13, 2014.
Unveiling viral–host interactions within the ‘microbial dark matter’.
Manuel Martínez-García et al. Nature Communications, August 14, 2014
Microbiology: Microbiome science needs a healthy dose of scepticism, by William P. Hanage, Nature News, Aug 20
Public Health England Initiative for Infectious Disease Genomics, by Catherine Arnold, PHG Foundation, Aug 19
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy
Audrezet MP, et al. Genet Med 2014 Aug
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Antonia Kwan, et al. JAMA, August 20, 2014
Editorial: Newborn screening for severe combined immunodeficiency: Progress and challenges
Neil A. Holtzman. JAMA. 2014;312(7):701-702.
SCID prevalence double previous estimates, Medscape, Aug 19 [by free subscription only]
Newborn screening for Pompe disease? A qualitative study exploring professional views
van El CG, et al. BMC Pediatr 2014 Aug;14(1):203
NIH News: Test reliably detects inherited immune deficiency in newborns
NIH-supported study suggests that early diagnosis of severe combined immunodeficiency leads to high survival rates, Aug 20
Newborn screening now in 21 states for life-threatening immune disease, Advanced Healthcare Network, Aug 17
Design and anticipated outcomes of the eMERGE-PGx Project: A multicenter pilot for preemptive pharmacogenomics in electronic health record systems
L J Rasmussen-Torvik et al. Clinical Pharmacology & Therapeutics, August 20, 2014
Genetic contribution to postpartum haemorrhage in Swedish population: cohort study of 466 686 births.
BMJ 2014; 349 (Published 13 August 2014)
Maternal plasma DNA testing: Experience of women counseled at a prenatal diagnosis center
O'Brien BM, et al. Genet Test Mol Biomarkers 2014 Aug
Mothers' experiences of genetic counselling in Johannesburg, South Africa
Morris M, et al. J Genet Couns 2014 Aug
Invasive no more: Four fetal cell-free DNA tests on the market today, by Rhonda Reinhart, Genome Magazine, Aug 20
A new window into the genetics of complex diseases
Linda Koch Nature Reviews Genetics, August 20, 2014
A review of the role of electronic health record in genomic research
Krishnamoorthy P, et al. J Cardiovasc Transl Res 2014 Aug
Genotype–phenotype correlation — Promiscuity in the era of next-generation sequencing
James T. Lu, et al. N Engl J Med 2014; 371:593-596August 14, 2014
Genotype/phenotype correlation, disease discoveries shaken up by next generation sequencing, Medical News Today, Aug 15
Massive schizophrenia genomics study offers new drug directions
Elie Dolgin Nature Reviews Drug Discovery. August 18, 2014
You are what you eat, but what about your DNA?
Martha Susiarjo, et al. Science 15 August 2014: Vol. 345 no. 6198 pp. 733-734.
10 reasons why genetic testing is important, I have Lynch Syndrome Blog Post, Aug 20
Medi-Cal denies patients access to now-basic genetic tests, Jessica Carew Kraft, SF Gate, Aug 20
New horizons and future directions for epigenetics, by Susannah Locke, Genetic Literacy Project, Aug 20
Genes to pathways to drug targets, by Robert Plenge, Plenge Lab, Aug 20
Blood test that allegedly predicts suicide risk only looks promising in the media, not in science, by Cecile Janssens, Huffington Post, Aug 19
Cool videos: Myotonic dystrophy, by Dr. Francis Collins, NIH Director, NIH, Aug 19
How one woman deciphered her own genetic mutation, Ed Yong, the Atlantic, Aug 19
NIH Research Matters: Over 100 genetic sites tied to schizophrenia, Aug 18
NIH Research Matters: Gene linked to rare inflammatory disease in children, Aug 18
NIH Research Matters: Detecting human prion disease, Aug 18
How Ebola patients survived – Experts, Vanguard Report, Aug 18
A revolution in classifying cancer? Andre Goy, Onclive, Aug 18
Do gut bacteria rule our minds? In an ecosystem within us, microbes evolved to sway food choices, by Jeffrey Norris, UCSF Aug 15
Our beautiful sons could die before us, Nick Taussig, The Guardian, Aug 15
Taking the yuck out of microbiome medicine, by Carl Zimmer, National Geographic, Aug 15
Epigenetics by any other name? What epigenetics should and should not be, Epigenetics Guy blog post, Aug 13
Next generation sequencing shakes up genotype/phenotype correlation, disease discoveries, Medical Xpress, Aug 13
Gene sequence but not structure? The costs of excluding epigenetics from genomics, Nexus of Epigenetics blog, Aug 1
Cordova: web-based management of genetic variation data
Ephraim SS, et al. Bioinformatics 2014 Aug
Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Javed A,, et al. Nat Methods. 2014 Aug 3.
Scientists develop genome-wide mutation hunting computational software for genomic medicine, Medical Xpress, Aug 19
Disease InfoSearch Database: locates quality information from a database of more than 13,000 conditions and thousands of support groups and foundations.
NCBI resources on genetic testing: Video webinar: MedGen, GTR, and ClinVar (June, 2014)
CDC authors are indicated in bold
Rapid and sensitive approach to simultaneous detection of genomes of hepatitis A, B, C, D and E viruses
Kodani M, Mixson-Hayden T, Drobeniuc J, Kamili S. J Clin Virol. 2014 Jul 5.
Discovery and full genome characterization of a new SIV lineage infecting red-tailed guenons (Cercopithecus ascanius schmidti) in Kibale National Park, Uganda
Lauck M, Switzer WM, Sibley SD, Hyeroba D, Tumukunde A, Weny G, Shankar A, Greene JM, Ericsen AJ, Zheng H, Ting N, Chapman CA, Friedrich TC, Goldberg TL, O'Connor DH.
Retrovirology. 2014 Jul;11(1):55.
Understanding and improving health education among first-time parents of infants with sickle cell anemia in Alabama: A mixed methods approach.
Lebensburger JD, Grosse SD, Altice JL, Thierry JM, Ivankova NV. J Pediatr Hematol Oncol. 2014 Jul 28.
Identification and genetic characterization of Clostridium botulinum serotype A strains from commercially pasteurized carrot juice
Marshall KM, Nowaczyk L, Raphael BH, Skinner GE, Rukma Reddy N. Food Microbiol. 2014 Dec;44:149-55.
Genetic History of Hepatitis C Virus in Pakistan.
Rehman IU, Vaughan G, Purdy MA, Xia GL, Forbi JC, Rossi LM, Butt S, Idrees M, Khudyakov YE. Infect Genet Evol. 2014 Aug 12. pii: S1567-1348(14)00292-5.
Population-based association and gene by environment interactions in genetic analysis workshop 18.
Satten GA, Biswas S, Papachristou C, Turkmen A, König IR. Genet Epidemiol. 2014 Sep;38 Suppl 1:S49-56.
Molecular xenomonitoring using mosquitoes to map lymphatic filariasis after mass drug administration in American Samoa.
Schmaedick MA, Koppel AL, Pilotte N, Torres M, Williams SA, Dobson SL, Lammie PJ, Won KY. PLoS Negl Trop Dis. 2014 Aug 14;8(8):e3087.
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