Genomics & Health Impact Update

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
Ingles J, et al. Heart 2011 Nov

Clinical utility gene card for: Trimethylaminuria
Shephard EA, et al. Eur J Hum Genet 2011 Nov

Economic Evaluation of Genomic Test-Directed Chemotherapy for Early-Stage Lymph Node-Positive Breast Cancer
Hall PS, et al. J Natl Cancer Inst 2011 Dec

Gene test could spare women from unnecessary radiation, USA Today, December 6

New breast cancer test may help curtail treatments, The News York Times, December 6

Potential clinical utility of gene-expression profiling in identifying tumors of uncertain origin, Medscape, December 4

Stakeholders say NIH underestimated money, time needed to submit data to Genetic Test Registry, Genome Web, November 30 [by free subscription only]

Why you need to record family health history, KARE 11, December 6

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors
Riley BD, et al. J Genet Couns 2011 Dec

Hemoglobinopathy newborn screening knowledge of physicians
McWalter KM, et al. Am J Prev Med 2011 Dec;41(6 Suppl 4):S384-9

Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers
Ready K, et al. Fertil Steril 2011 Dec

Knowledge and therapeutic gaps a public health problem in the rare coagulation disorders population
Shapiro AD, et al. Am J Prev Med 2011 Dec;41(6 Suppl 4):S324-31

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Mechtler TP, et al. Lancet 2011 Nov

Preferences for Genetic Testing to Identify Hereditary Colorectal Cancer: Perspectives of High-Risk Patients, Community Members, and Clinicians
Walsh J, et al. J Cancer Educ 2011 Dec

Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand
Ameratunga R, et al. Ann N Y Acad Sci 2011 Nov;1238(1):53-64

Propionic acidemia: neonatal versus selective metabolic screening
Grunert SC, et al. J Inherit Metab Dis 2011 Dec

Quality evaluation of guidelines on genetic screening, surveillance and management of hereditary colorectal cancer
Simone B, et al. Eur J Public Health 2011 Dec

Sickle cell disease the need for a public health agenda
Yusuf HR, et al. Am J Prev Med 2011 Dec;41(6 Suppl 4):S376-83

The evaluation of cascade testing for familial hypercholesterolemia
Morris JK, et al. Am J Med Genet A 2011 Dec

Molecular diagnostics: Harmonization through reference materials, documentary standards and proficiency testing, Medscape, December 2

Consent forms in genomics: the difference between law and practice
Boddington P, et al. Eur J Health Law 2011 Dec;18(5):491-519

Genomics and privacy: implications of the new reality of closed data for the field
Greenbaum D, et al. PLoS Comput Biol 2011 Dec;7(12):e1002278

Screening U.S. College athletes for their sickle cell disease carrier status
Jordan LB, et al. Am J Prev Med 2011 Dec;41(6 Suppl 4):S406-12

Next-Generation DNA Sequencing, Regulation, and the Limits of Paternalism
Evans J, Berg J.  JAMA 2011;306(21):2376-2377

The power to help, hurt and confuse: Direct-to-consumer whole genome testing, Medical News Today, December 7

Association of direct-to-consumer genome-wide disease risk estimates and self-reported disease Bloss CS, et al. Genet Epidemiol 2011 Nov

AutismKB: an evidence-based knowledgebase of autism genetics
Xu LM, et al. Nucleic Acids Res 2011 Dec

GWASdb: a database for human genetic variants identified by genome-wide association studies
Li M, Wang P, Liu X, et al. Nucleic Acids Research 2011 Nov 14

Lessons Learned from Genetic Analysis Workshop 17: Transitioning from Genome-Wide Association Studies to Whole-Genome Statistical Genetic Analysis
Wilson A, Ziegler A. Genetic Epidemiology 2011 35:S107-S114

SNPedia: a wiki supporting personal genome annotation, interpretation and analysis
Cariaso M & Lennon G Nucleic Acids Res 2011 Dec

STrengthening the Reporting of OBservational studies in Epidemiology - Molecular Epidemiology (STROBE-ME): An Extension of the STROBE Statement.
Gallo V, Egger M, McCormack V, et al. PLoS Med. 2011 Oct;8(10):e1001117.

Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition.
Ramsey LB, Bruun GH, Yang W, et al. Genome Res 2011

Pharmacogenomics study finds rare gene variants critical for personalized drug treatment, EurekAlert, December 5

A KRAS variant is a biomarker of poor outcome, platinum chemotherapy resistance and a potential target for therapy in ovarian cancer
Ratner E, Keane F, Lindner F, et al. Oncogene 2011 Dec 5

Tiny genetic variation can predict ovarian cancer outcome, EurekAlert, December 5

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Elia J, Gelessner J, Wang K, et al. Nature Genetics 2011 Dec 4

New ADHD gene study points to defects in brain signaling pathways, Science Daily, December 4

Population composition, public policy, and the genetics of smoking.
Boardman JD, Blalock CL, Pampel FC, et al. Demography. 2011 Nov;48(4):1517-33.

Genes may make quitting tougher for smokers, US News, December 2

Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector.
Bowles DE, McPhee SW, Li C, et al. Mol Ther. 2011 Nov 8.

Safety of customized gene therapy demonstrated by clinical trial for muscular dystrophy, Medical News Today, December 2

Beyond base pairs to bedside: a population perspective on how genomics can improve health
Khoury MJ, Gwinn M, Bowen MS, Dotson WD. Am J Public Health. 2011 Nov 17.

CFTR mutation analysis and haplotype associations in CF patients.
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW. Mol Genet Metab. 2011 Oct 26.

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
Miller CH, Benson J, Ellingsen D, Driggers J, Payne A, Kelly FM, Soucie JM, Hooper WC. Haemophilia. 2011 Nov 21.

Optimization of a low cost and broadly sensitive genotyping assay for HIV-1 drug resistance surveillance and monitoring in resource-limited settings
Zhou Z, Wagar N, Devos JR, Rottinghaus E, Diallo K, Nguyen DB, Bassey O, Ugbena R, Wadonda-Kabondo N, McConnell MS, Zulu I, Chilima B, Nkengasong J, Yang C. PLoS One. 2011 ;6(11):e28184.

Rapid typing of Coxiella burnetii
Hornstra HM, Priestley RA, Georgia SM, Kachur S, Birdsell DN, Hilsabeck R, Gates LT, Samuel JE, Heinzen RA, Kersh GJ, Keim P, Massung RF, Pearson T. PLoS One. 2011 ;6(11):e26201.

Semi-quantitative analysis of influenza samples using the Luminex xTAG(R) respiratory viral panel kit
Smith J, Sammons D, Toennis C, Butler MA, Blachere F, Beezhold D. Toxicol Mech Methods. 2011 Nov 23.

Personalized Medicine: A Patient-Centered Paradigm [PDF 202.09 KB]
Chouchane L, et al. J Transl Med 2011 Dec;9(1):206

NHGRI broadens sequencing program focus on inherited diseases, medical applications, NIH News, December 6

Funds dedicated to personalized genetics, Nature, December 6

Video game players advancing genetic research, McGill Newsroom, December 6

Computer scientists may have what it takes to help cure cancer, The New York Times, December 5

A decade of exploring the cancer epigenome, Medscape, December 2 [by free subscription only]

Human Genome Untangled in 3-D, Scientific American, December 2