Genomics & Health Impact Update:
Volume 32 Number 9 March 6 - 13, 2014 Previous Issue Back Issues About the Update
Features of the Week
The Future of Genomic Medicine VII: Scripps Insitute, [PDF 1.02 MB] LaJolla, CA, March 6-7, 2014
American College of Medical Genetics 2014 meeting, Nashville TN, March 25-29, 2014
Acceptability of prophylactic salpingectomy with delayed oophorectomy as risk-reducing surgery among BRCA mutation carriers
Holman LL, et al. Gynecol Oncol 2014 Feb
An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing
Lundy MG, et al. J Genet Couns 2014 Feb
Dawning of the epigenetic era in hereditary cancer.
Hitchins MP, et al. Clin Genet. 2014 Mar 3.
External quality assessment of BRAF molecular analysis in melanoma
Deans ZC, et al. J Clin Pathol 2014 Feb;67(2):120-4
Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: Investigation in the QUASAR2 study, systematic review, and meta-analysis
Rosmarin D, et al. J Clin Oncol 2014 Mar
Genetic biomarkers for fluorouracil toxicity prediction: The long road to clinical utility
Lee AM & Diasio RB J Clin Oncol 2014 Mar
In their own words: Treating very young BRCA1/2 mutation-positive women with care and caution
Hoskins LM, et al. PLoS One 2014;9(2):e87696
Traditional roles in a non-traditional setting: Genetic counseling in precision oncology
Everett JN, et al. J Genet Couns 2014 Mar
Genetics of breast and ovarian cancer (PDQ®), update from the National Cancer Institute, Feb 2014
A human rights approach to an international code of conduct for genomic and clinical data sharing
Knoppers BM, et al. Hum Genet 2014 Feb
Identifying personal genomes by surname inference.
Gymrek M, et al. Science. 2013 Jan 18;339(6117):321-4.
Scientists explore safeguards for genomic data privacy, Medical Press, Mar 1
Anonymous genetic profiles aren't completely anonymous, by Sarah Witman, Inside Science, Feb 27
In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail
Strong K, et al. The American Journal of Bioethics Volume 14, Issue 3, 2014
Industry involvement in publicly funded biobanks
Timothy Caulfield et al. Nature Reviews Genetics 25 February 2014
Innovation, risk, and patient empowerment: the FDA-mandated withdrawal of 23andMe's personal genome service
Downing NS & Ross JS JAMA 2014 Feb;311(8):793-4
Return of genomic results in the genomic medicine projects of the eMERGE Network
Iftikhar J. Kullo et al. Frontiers in Genetics, February 2014
Scientists explore safeguards for genomic data privacy, by Nancy Owano, Medical Xpress Mar 1
Whole genome sequencing is here to stay. What does that mean for genetic privacy? Véronique LaCapra, Northern Public Radio, Feb 26
Pilot trial of an electronic family medical history in US faith-based communities
Newcomb P, et al. J Prim Care Community Health 2014 Feb
A genetic counseling intervention to facilitate family communication about inherited conditions
Gaff C & Hodgson J J Genet Couns 2014 Mar
An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program
Williams JL, et al. J Genet Couns 2014 Feb
Clinical utility gene card for: Phosphomannose isomerase deficiency
Jaeken J, et al. Eur J Hum Genet 2014 Feb
Clinical utility gene card for: Transient neonatal diabetes mellitus, 6q24-related
Mackay D, et al. Eur J Hum Genet 2014 Feb
Clinical utility gene card for: Williams-Beuren syndrome
Koehler U, et al. Eur J Hum Genet 2014 Feb
Impact of delivery models on understanding genomic risk for type 2 diabetes
Haga SB, et al. Public Health Genomics 2014 Feb
Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment
Hardcastle SJ, et al. Int J Behav Med 2014 Mar
Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
O'Brien EC, et al. Am Heart J 2014 Mar;167(3):342-9.e17
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population
Feldman GL, et al. Genet Med 2014 Feb
The incorporation of predictive genomic testing into genetic counseling programs
Noss R, et al. J Genet Couns 2014 Mar
Vision and change through the Genome Consortium for Active Teaching Using Next-Generation Sequencing (GCAT-SEEK)
Buonaccorsi V, et al. CBE Life Sci Educ 2014 Spring;13(1):1-2
Updated guidelines for colon cancer, [PDF 1.30 MB] NCCN Clinical Practice Guidelines in Oncology, March 2014 [by free subscription only]
Newborn screening for SCID in New York State: Experience from the first two years
Vogel BH, et al. J Clin Immunol 2014 Mar
Global pharmacogenomics: Where is the research taking us?
Olivier C & Williams-Jones B Glob Public Health 2014 Feb
A randomized trial of a prenatal genetic testing interactive computerized information aid
Yee LM, et al. Prenat Diagn 2014 Feb
DNA sequencing versus standard prenatal aneuploidy screening.
Bianchi DW, et al. N Engl J Med. 2014 Feb 27;370(9):799-808.
Screening for trisomies in circulating DNA.
Greene MF, Phimister EG. N Engl J Med. 2014 Feb 27;370(9):874-5.
Non-invasive prenatal testing outperforms screening, PHG Foundation, Mar 3
An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing
Bernhardt BA, et al. J Genet Couns 2014 Feb
Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models
Milton JN, et al. Circ Cardiovasc Genet 2014 Mar
Easy test. tough answers, by Timothy Caulfield, IRPP, Mar 2014
Prenatal-screening companies expand scope of DNA tests, Nature News, Mar 4
Accurate and robust prediction of genetic relationship from whole-genome sequences
Hong Li, et al. PloS One February 28, 2014
Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.
Cheng AY, et al. Bioinformatics. 2014 Feb 27.
Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: An observational study of 17,345 persons
Fisher K, et al. PLoS Med 2014 Feb 25
Economic utility of a blood-based genomic test for the assessment of patients with symptoms suggestive of obstructive coronary artery disease
Hochheiser LI, et al. Popul Health Manag 2014 Feb
Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV
Tebas P, et al. N Engl J Med. 2014 Mar 12
Engineering cellular resistance to HIV
Kay M and Walker B N Engl J Med 2014; 370:968-969 March 6, 2014
A genotype-first approach to defining the subtypes of a complex disease.
H Stessman, Cell, February 2014
Harvard Personal Genome Project: lessons from participatory public research [PDF 460.59 KB]
Madeleine P Ball et al. Genome Medicine, February 2014
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont et al. Am J Hum Genetics, February 26, 2014
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Jason Flannick et al. Nature Genetics, March 2, 2014
Rare mutation kills off gene responsible for diabetes, by Gina Kolata, The New York Times, Mar 2
A penalized robust method for identifying gene–environment interactions
Xingjie Shi et al. Genetic Epidemiology, February 2014
CRISPR-Cas systems for editing, regulating and targeting genomes
Sander J, et al. Nature Biotechnology (2014) Mar 2
The rise of big data, by Nancy B. Williams, March 2014 Clinical Laboratory News: Volume 40, Number 3
Epigenetics: The sins of the father: The roots of inheritance may extend beyond the genome, but the mechanisms remain a puzzle, by Virginia Hughes, Nature News, Mar 5
Global Alliance for genomics & health: losing sight of health? By Dr Philippa Brice, PHG Foundation, Mar 5
Top 10 emerging technologies for 2014, World Economic Forum, Mar
A powerful new way to edit DNA, by Andrew Pollack, New York Times, Mar 3
Tracking genes on the path to genetic treatment, BioScience Technology Blog, Mar 3
Kaiser Permanente, UCSF provide 55 billion bits of genetic data to researchers, Chris Rauber, San Francisco Business Times, Feb 26
The HuGENavigator database now has almost 90K publications including ~2750 genomewide association studies & > 5500 meta analyses
Did you know that the HuGENavigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. Users can also switch to a gene-centered view (Genopedia)
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
CDC authors are indicated in bold
Application of a reverse dot blot DNA-DNA hydridization method to quantify host-feeding tendencies of two sibling species in the Anopheles gambiae complex
Fritz ML, Miller JR, Bayoh MN, Vulule JM, Landgraf JR, Walker ED. Med Vet Entomol. 2013 Dec;27(4):398-407.
Deletion of the NSm virulence gene of Rift Valley fever virus inhibits virus replication in and dissemination from the midgut of Aedes aegypti mosquitoes
Kading RC, Crabtree MB, Bird BH, Nichol ST, Erickson BR, Horiuchi K, Biggerstaff BJ, Miller BR. PLoS Negl Trop Dis. 2014 Feb;8(2):e2670.
Evolution and structural organization of the C proteins of paramyxovirinae.
Lo MK, Søgaard TM, Karlin DG. PLoS One. 2014 Feb 25;9(2):e90003.
Human papillomavirus genotype prevalence in invasive penile cancers from a registry-based United States population
Hernandez BY, Goodman MT, Unger ER, Steinau M, Powers A, Lynch CF, Cozen W, Saber MS, Peters ES, Wilkinson EJ, Copeland G, Hopenhayn C, Huang Y, Watson M, Altekruse SF, Lyu C, Saraiya M. Front Oncol. 2014 ;4:9.
A public health economic assessment of hospitals' cost to screen newborns for critical congenital heart disease
Peterson C, Grosse SD, Glidewell J, Garg LF, Van Naarden Braun K, Knapp MM, Beres LM, Hinton CF, Olney RS, Cassell CH. Public Health Rep 2014 Jan-2014 Feb;129(1):86-93
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