Genomics & Health Impact Update
Volume 32 Number 7 February 20-27, 2014Previous Issue About the Update
Features of the Week
The Future of Genomic Medicine VII, [PDF 778.13 KB] March 6-7, 2014, Scripps Institute, LaJolla, CA
American College of Medical Genetics, March 25-29, 2014, Nashville TN
Ethics at the Crossroads: Where Public Health, Genomics, Data, and Translational Science Meet Indiana University, May 7th 2014 , Purdue University Indianapolis Campus Center, Indianapolis, IN
Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2
Jackson SA, et al. Cancer 2014 Feb
Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis
Metcalfe K, et al. BMJ 2014;348:g226
Determinants of genetic counseling uptake and its impact on breast cancer outcome: a population-based study
Ayme A, et al. Breast Cancer Res Treat 2014 Feb
Fine-mapping the HOXB region detects common variants tagging a rare coding allele: Evidence for synthetic association in prostate cancer
Edward J. Saunders, et al. PLOS Genetics 10(2): e1004129
Prostate cancer study suggests synthetic association between common SNPs and rarer causal variant, Genome Web, Feb 14 [by free subscription only]
Lynch Syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old
Baiocchi GL, et al. BMC Surg 2014 Feb;14(1):9
Patient-reported disease knowledge and educational needs in Lynch syndrome: findings of an interactive multidisciplinary patient conference.
Bannon SA, et al. Hered Cancer Clin Pract. 2014 Feb 5;12(1):1.
Screening colonoscopy in first-degree relatives of patients with colorectal cancer
Barzin G, et al. Arch Iran Med 2014 Feb;17(2):115-7
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: Results from the initial screening round of the IMPACT Study.
Bancroft EK, et al. Eur Urol. 2014 Jan 15.
Gene test helps patients avoid thyroid surgery. A molecular diagnosis gives doctors and patients better treatment options when suspicious lumps are found in the neck, by Susan Young, Tech Review, Feb 18
Seeking medical clues from the 'super responder', Frank Diamond, the Inquirer, Feb 16
If it works, new approach to detecting cancer may save your life, Christina Farr, Venture Beat, Feb 15
FDA faces regulatory challenges with new approaches to medicine.
British Medical Journal, February 14, 2014
The ethics of anonymous gamete donation: Is there a right to know one's genetic origins?
de Melo-Martin I Hastings Cent Rep 2014 Feb
Familial clustering in Italian progressive-onset and bout-onset multiple sclerosis
Guaschino C, et al. Neurol Sci 2014 Feb
Family history of coronary heart disease is more strongly associated with coronary than with carotid atherosclerosis in healthy asymptomatic adults
Suh B, et al. Atherosclerosis 2014 Jan;233(2):584-9
Prospective cohort studies of association between family history of liver cancer and risk of liver cancer
Yang Y, et al. Int J Cancer 2014 Feb
Quality of family history collection with use of a patient facing family history assessment tool
Wu RR, et al. BMC Fam Pract 2014 Feb;15(1):31
ASCO issues new recommendations for family history taking in oncology setting, by kjmonahan, Feb 15
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
Ricci MT, et al. Eur J Hum Genet. 2014 Feb;22(2):280-2.
Clinical utility gene card for: Maturity-onset diabetes of the young
Colclough K, et al. Eur J Hum Genet 2014 Feb
Clinical utility gene card for: Oculocutaneous albinism
Gronskov K, et al. Eur J Hum Genet 2014 Feb
Clinical whole-exome sequencing: are we there yet?
Atwal PS, et al. Genet Med 2014 Feb
Developing standards for chromosomal microarray testing counselling in paediatrics
Godfrey E & Clark P Acta Paediatr 2014 Feb
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels [PDF 65.70 KB]
European Journal of Human Genetics advance online publication, 19 February 2014
The $1000 genome, what does it mean for patients? Posted by kjmonahan , Feb 15
Finding out if high cholesterol is inherited could save a life, doctors say, by Erin Ellis, Vancouver Sun, Feb 13
50 years of newborn screening
Hoffmann GF, et al. J Inherit Metab Dis 2014 Feb
Newborn bloodspot screening: setting the Australian national policy agenda
Maxwell SJ & O'Leary P Med J Aust 2014 Feb;200(3):142-3
Cost-effectiveness of genotype-guided and dual antiplatelet therapies in acute coronary syndrome
Kazi D, et al. Ann Intern Med. 2014;160(4):221-232-232
Perception of the usefulness of drug/gene pairs and barriers for pharmacogenomics in Latin America
Quinones L, et al. Curr Drug Metab 2014 Feb
Pharmacogenetics in the community pharmacy: Thienopyridine selection post-coronary artery stent placement
Kisor DF, et al. J Pharm Pract 2014 Feb
Pharmacogenetics-based warfarin dosing in children
Hamberg AK & Wadelius M Pharmacogenomics 2014 Feb;15(3):361-74
Attitudes of mothers of children with Down syndrome towards noninvasive prenatal testing.
Kellogg G, et al. J Genet Couns. 2014 Feb 1.
Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients?
Bui TH, et al. Prenat Diagn. 2014 Jan;34(1):12-7.
Should parents be allowed to know their fetus will get Alzheimer’s? Chicago Sun-Times, Feb 15
From policy making to service use. Down's syndrome antenatal screening in England, France and the Netherlands
Vassy C, et al. Soc Sci Med 2014 Jan;106C:67-74
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
Vanakker O, et al. Eur J Med Genet 2014 Feb
In vitro screening of embryos by whole-genome sequencing: now, in the future or never?
Winand R, et al. Hum Reprod. 2014 Feb 2.
Next-generation carrier screening.
Mark A. Umbarger et al. Genetics in Medicine, February 15, 2014
DNA Sequencing of IVF embryos. Researchers are testing whether high-throughput DNA sequencing can help screen out abnormal embryos during in vitro fertilization, by Susan Young, MIT Technology Review, Feb 14
Accurate and robust genomic prediction of celiac disease using statistical learning
Gad Abraham, et al. PLoS Genetics, February 13, 2014
Detection of epistatic effects with logic regression and a classical linear regression model.
Magdalena Malina et al. Statistical Applications in Genetics and Molecular Biology, January, 2014
Strain/species identification in metagenomes using genome-specific markers.
Tu Q, et al. Nucleic Acids Res. 2014 Feb 12.
Subjects with familial hypercholesterolemia are characterized by an inflammatory phenotype despite long-term intensive cholesterol lowering treatment
Holven KB, et al. Atherosclerosis 2014 Jan;233(2):561-7
Fine-mapping the HOXB region detects common variants tagging a rare coding allele: Evidence for synthetic association in prostate cancer.
Edward J. Saunders et al. PloS Genetics, February 13, 2014
Ribosome profiling: new views of translation, from single codons to genome scale.
Nicholas T. Ingolia. Nature Reviews Genetics, February, 2014
Susceptibility to type 2 diabetes mellitus—from genes to prevention
Hivert MF, et al. Nature Reviews Endocrinology (2014)
Genomics and the origin of species
Seehausen O, et al. Nature Reviews Genetics 15,176–192 (2014) Feb 18
Why "big data" is a big deal- information science promises to change the world, Harvard Magazine, March 2014
The genetics of being a daredevil, The New York Times Blog Post, Feb 19
Whole genome analysis speeds up: 240 full genomes in 50 hours, Science Daily, Feb 19
The $1,000 genome is here, MIT Technology Review, Feb 18
Has the missing heritability of a common disease been found? PHG Foundation, Feb 18
Data to discovery: Genomes to health, [PDF 2.18 MB] a White Paper from the National Consortium for Data Science
Policy recommendations on using genomic big data for health, PHG Foundation, Feb 17
Top ten tech trends: Putting genetic data in clinicians' hands, by David Raths, Healthcare Informatics, Feb 17
Opinion: Translational Biotechnology- Regulators must consider both the promise and potential pitfalls of new technologies when determining whether to move them into clinical trials, by John D. Loike, the Scientist, Feb 17
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.
Justin M Zook et al. Nature Biotechnology, February 16, 2014
How to hide your genome, Science Now, February 16, 2014
Six persistent research misconceptions.
Ken Rothman, J Gen Int Medicine, January 2014
Building up biology.
Nature Chemical Biology, February 14, 2014
Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding
D Cohen et al. British Medical Journal, February 12, 2014
DNA testing used to dig up family roots
Technology opens doors in genealogical research, by Tony Gozalez. The Tennessean, Feb. 15
Computers select personal medicine, by Jonathan Amos, BBC News, February 15, 2014
In search of scientific blunders, by Ken Weiss, Mermaid Tale Blog, February 17, 2014
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
Intra-host diversity and evolution of hepatitis C virus endemic to Côte d'Ivoire.
Forbi JC, Campo DS, Purdy MA, Dimitrova ZE, Skums P, Xia GL, Punkova LT, Ganova-Raeva LM, Vaughan G, Ben-Ayed Y, Switzer WM, Khudyakov YE. J Med Virol. 2014 Feb 12.
Robust regression analysis of copy number variation data based on a univariate score.
Satten GA, Allen AS, Ikeda M, Mulle JG, Warren ST. PLoS One. 2014 Feb 7;9(2):e86272.
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