Genomics & Health Impact Update

Clinical utility gene card for: Central core disease
Lillis S, et al. Eur J Hum Genet 2011 Oct

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Palomaki G, Kloza E, Lambert-Messerlian G, et al. Genet Med. 2011 Oct 14.

A less risky Down Syndrome test is developed, The New York Times, October 17

Role of Family History for Alzheimer Biomarker Abnormalities in the Adult Children Study
Xiong C, Roe CM, Buckles V, et al. Arch Neurol. 2011 Oct;68(10):1313-9.

Family history of Alzheimer's linked to preclinical markers, Medscape, October 17 [by free subscription only]

Guidelines for genetic testing of inherited cardiac disorders
Ingles J, et al. Heart Lung Circ 2011 Nov;20(11):681-7

Integrating pharmacogenomics into pharmacy practice via medication therapy management
American Pharmacists Association J Am Pharm Assoc (2003) 2011 Oct:e64-e74

The Impact of Risk Information Exposure on Women's Beliefs about Direct-to-Consumer Genetic Testing for BRCA Mutations
Gray SW, et al. Clin Genet 2011 Oct

Trends in Telehealth versus On-site Clinical Genetics Appointments in Manitoba: A Comparative Study
Elliott AM, et al. J Genet Couns 2011 Oct

CDC funds states' breast cancer genomics initiatives, Genome Web, October 13 [by free subscription only]

Commentary: Save the Children: Direct-to-Consumer Testing of Children is Premature, Even for Research.
Patenaude AF. J Pediatr Psychol. 2011 Oct 12.

DTC Genetic Testing: Pendulum Swings and Policy Paradoxes
Caulfield T Clin Genet 2011 Oct

The role of health technology assessment in coverage decisions on newborn screening
Fischer KE, et al. Int J Technol Assess Health Care 2011 Oct;27(4):313-21

ACLU, PUBPAT to ask supreme court to take up gene patenting case, Genome Web, October 13 [by free subscription only]

Should researchers reveal genetic findings? PHG Foundation, October 13

Defining variations in survival of BRCA1 and BRCA2 mutation carriers
Grann VR & Parsons RE JAMA 2011 Oct;306(14):1597-8

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer
Yang D, et al. JAMA 2011 Oct;306(14):1557-65

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
Khor CC, Chau TN, Pang J, Davila S, et al. Nat Genet. 2011 Oct 16.

First genome-wide association study for dengue identifies candidate susceptibility genes, Science Daily, October 16

APOL1 Variants Increase Susceptibility to FSGS and HIV-1 Associated Nephropathy but not IgA Nephropathy in African Americans
Papeta N, Kiryluk K, Patel A, et al. J Am Soc Nephrol. 2011 Oct 13.

APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy
Kopp JB, Nelson GW, Sampath K, et al. J Am Soc Nephrol. 2011 Oct 13

Population-based Risk Assessment of APOL1 on Renal Disease.
Friedman DJ, Kozlitina J, Genovese G, et al. J Am Soc Nephrol. 2011 Oct 13

Genetic Variation in APOL1 Associates with Younger Age at Hemodialysis Initiation.
Kanji Z, Powe CE, Wenger JB, et al. J Am Soc Nephrol. 2011 Oct 13.

APOL1 Localization in Normal Kidney and Nondiabetic Kidney Disease.
Madhavan SM, O'Toole JF, Konieczkowski M, et al. J Am Soc Nephrol. 2011 Oct 13.

Better ways to predict kidney disease risk for African Americans, EurekAlert, October 14

The ACE I/D polymorphism in US adults: limited evidence of association with hypertension-related traits and sex-specific effects by race/ethnicity
Ned RM, Yesupriya A, Imperatore G, Smelser DT, Moonesinghe R, Chang MH, Dowling NF. Am J Hypertens. 2011 Oct 13.

Ancient ancestry of KFDV and AHFV revealed by complete genome analyses of viruses isolated from ticks and mammalian hosts
Dodd KA, Bird BH, Khristova ML, Albarino CG, Carroll SA, Comer JA, Erickson BR, Rollin PE, Nichol ST. PLoS Negl Trop Dis. 2011 Oct;5(10):e1352.

Development of multiplexed species specific polymerase chain reaction assays for identification of the Culex (Melanoconion) species (Diptera: Culicidae) of the southeastern United States based on rDNA
Williams MR, Savage HM. J Med Entomol. 2011 Sep;48(5):961-6.

Host genetic risk factors for West Nile virus infection and disease progression
Bigham AW, Buckingham KJ, Husain S, Emond MJ, Bofferding KM, Gildersleeve H, Rutherford A, Astakhova NM, Perelygin AA, Busch MP, Murray KO, Sejvar JJ, Green S, Kriesel J, Brinton MA, Bamshad M. PLoS One. 2011 ;6(9):e24745.

Human infection with novel G3P[25] rotavirus strain in Taiwan
Wu FT, Banyai K, Huang JC, Wu HS, Chang FY, Hsiung CA, Huang YC, Lin JS, Hwang KP, Jiang B, Gentsch JR. Clin Microbiol Infect. 2011 Oct;17(10):1570-1573.

Outbreak detectives embrace the genome era
Kupferschmidt K Science 2011 Sep;333(6051):1818-9

Genomic medicine has failed the poor, Nature News, October 19

Scripps launches sequencing study of mysterious diseases, Genome Web, October 18 [by free subscription only]

EMR-based algorithm portable, productive, and cost effective, Medscape, October 17 [by free subscription only]

Scientists map 115-year-old woman's genome to study longevity, Medical News Today, October 17

BGI to sequence thousands of genomes for autism speaks, Genome Web, October 13 [by free subscription only]