Genomics & Health Impact Update

Validation of a Screening Tool for the Rapid and Reliable Detection of CGG Trinucleotide Repeat Expansions in FMR1
Basehore MJ, et al. Genet Test Mol Biomarkers 2012 Jan

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
Jang JH, Lee JE, Kwon MJ, et al. J Hum Genet. 2012 Jan 5.

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers
Heald B, et al. Eur J Hum Genet 2012 Jan

By the pricking of my thumbs, something wicked this way comes: sporadic cancers versus eponymous hereditary cancer predisposition syndromes
Vaklavas C, et al. J Natl Compr Canc Netw 2012 Jan;10(1):7-13

Colorectal Cancer Survivors' Interest in Genetic Testing for Hereditary Cancer: Implications for Universal Tumor Screening
Cragun D, et al. Genet Test Mol Biomarkers 2012 Jan

Communication about DTC Testing: Commentary on a 'Family Experience of Personal Genomics'
Middleton A J Genet Couns 2012 Jan

A Family Experience of Personal Genomics
Corpas M J Genet Couns 2012 Jan

Effect of Ambiguous Hemochromatosis Gene Test Results on Physician Utilization
Speechley M, et al. Med Care 2012 Jan

Newborn screening for lysosomal diseases: current status and potential interface  with population medical genetics in Latin America
Giugliani R J Inherit Metab Dis 2012 Jan

Online Tool to Guide Decisions for BRCA1/2 Mutation Carriers
Kurian AW, et al. J Clin Oncol 2012 Jan

Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers?
Evans DG & Howell A J Clin Oncol 2012 Jan

'Personalized medicine' to identify genetic risks for type 2 diabetes and focus prevention: can it fulfill its promise?
Spiegel AM, Hawkins M. Health Aff (Millwood). 2012 Jan;31(1):43-9.

Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease
Bombard Y, et al. Am J Med Genet B Neuropsychiatr Genet 2012 Jan

Knowledge, attitudes and preferences regarding genetic testing for smoking cessation. A cross-sectional survey among Dutch smokers
Quaak M, et al. BMJ Open 2012;2:e000321

Population differences in genetic risk for age-related macular degeneration and implications for genetic testing
Spencer KL, et al. Arch Ophthalmol 2012 Jan;130(1):116-7

Technical desiderata for the integration of genomic data into Electronic Health Records
Masys DR, et al. J Biomed Inform 2011 Dec

When parents disclose BRCA1/2 test results: Their communication and perceptions of offspring response
Bradbury AR, et al. Cancer 2012 Jan

Most parents who get tested for breast cancer genes share results with their children, EurekAlert, January 9

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
Denny JC, Crawford DC, Ritchie MD, et al. Am J Hum Genet. 2011 Oct 7;89(4):529-42.

VU study applies random genotype sets to new disease, Vanderbilt University, January 6

Analysis of a non-structural gene reveals evidence of possible hepatitis C virus (HCV) compartmentalization
Blackard JT, Ma G, Welge JA, Martin CM, Sherman KE, Taylor LE, Mayer KH, Jamieson DJ. J Med Virol. 2012 February;84(2):242-252.

Diversity of 16S-23S rDNA internal transcribed spacer (ITS) reveals phylogenetic relationships in Burkholderia pseudomallei and its near-neighbors
Liguori AP, Warrington SD, Ginther JL, Pearson T, Bowers J, Glass MB, Mayo M, Wuthiekanun V, Engelthaler D, Peacock SJ, Currie BJ, Wagner DM, Keim P, Tuanyok A. PLoS One. 2011 ;6(12):e29323.

Japanese encephalitis virus genotype replacement, Taiwan, 2009-2010
Chen YY, Fan YC, Tu WC, Chang RY, Shih CC, Lu IH, Chien MS, Lee WC, Chen TH, Chang GJ, Chiou SS. Emerg Infect Dis. 2011 Dec;17(12):2354-6.

Molecular epidemiology of anthrax cases associated with recreational use of animal hides and yarn in the United States
Marston CK, Allen CA, Beaudry J, Price EP, Wolken SR, Pearson T, Keim P, Hoffmaster AR. PLoS One. 2011 ;6(12):e28274.

Analysis: Human genome hype or reality? BBC News, January 10

Entire human genome sequenced for $1,000, Medical News Today, January 10

Insight: New DNA reader to bring promise, Reuters, January 10