Genomics & Health Impact Update

Clinical utility gene card for: Werner syndrome
Hisama FM, et al. Eur J Hum Genet 2012 Jan

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group on behalf of the Italian Society of Human Genetics (SIGU), November 2011
Novelli A, et al. Ultrasound Obstet Gynecol 2012 Jan

Health beliefs among individuals at increased familial risk for type 2 diabetes:  Implications for prevention
Dorman JS, et al. Diabetes Res Clin Pract 2012 Jan

Impact of Colon Cancer Screening on Family History Phenotype
Newcomb PA, et al. Epidemiology 2012 Jan

The Use of a Family History Risk Assessment Tool within a Community Health Care System: Views of Primary Care Providers
Christianson CA, et al. J Genet Couns 2012 Jan

The family tree, News Times, January 24

Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education
Padilla CD & Therrell BL Jr J Community Genet 2012 Jan

Knowledge, attitudes and education of pharmacists regarding pharmacogenetic testing, Medcape, January 24

Charting ELSI's future course: lessons from the recent past
Walker RL & Morrissey C Genet Med 2012 Jan

The role of disease characteristics in the ethical debate on personal genome testing
Bunnik EM, et al. BMC Med Genomics 2012 Jan;5(1):4

Effect of genetic testing for risk of type 2 diabetes mellitus on health behaviors and outcomes: Study rationale, development, and design
Cho AH, et al. BMC Health Serv Res 2012 Jan;12(1):16

Offering aggregate results to participants in genomic research: opportunities and challenges
Beskow LM, et al. Genet Med 2012 Jan

Racial and Ethnic Differences in Direct-to-Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates
Langford AT, et al. J Genet Couns 2012 Jan

Rare and common variants: twenty arguments.
Gibson G. Nat Rev Genet. 2012 Jan 18;13(2):135-45

Genetic abnormality predicts treatment benefit for patients with rare brain tumor, NCI Cancer Bulletin, January 24

Genetic abnormality predicts benefit from treatment for a rare brain tumor, NCI, January 19

Genetic contributions to stability and change in intelligence from childhood to old age.
Deary IJ, Yang J, Davies G, et al. Nature. 2012 Jan 18.

Genes may help brains age better, PHG Foundation, January 24

Life-long intelligence in the genes, Nature News, January 24

Cardiometabolic risk and the MTHFR C677T variant in children treated with second-generation antipsychotics
Devlin A, Ngai Y, Ronsley R, et al. Translational Psychiatry (2012) 2, e71

Genetic variation increases risk of metabolic side effects in children on some antipsychotics, EurekAlert, January 24

Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
Bolton K, Chenevix-Trench G, Goh C, et al. JAMA 2012; 307(4):382-389

Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study.
Goodwin PJ, Phillips KA, West DW, et al. J Clin Oncol. 2012 Jan 1;30(1):19-26.

Ovarian cancer patients with BRCA mutations may fare better than non-carriers, NCI Cancer Bulletin, January 24

Women with certain type of ovarian cancer and BRCA gene mutation have improved survival at 5 years, Science Daily, January 24

Does a BRCA mutation influence breast cancer outcomes? Medscape, January 20

Discovery of common variants associated with low TSH levels and thyroid cancer risk.
Gudmundsson J, Sulem P, Gudbjartsson DF, et al. Nat Genet. 2012 Jan 22.

Decode-led team tracks down thyroid cancer related variants, Genome Web, January 23 [by free subscription only]

Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Ghoussaini M, Fletcher O, Michailidou K, et al. Nat Genet. 2012 Jan 22.

Large analysis leads to three new breast cancer risk loci, Genome Web, January 23 [by free subscription only]

Genetic Signatures of Exceptional Longevity in Humans
Sebastiani P, Solovieff N, DeWan AT, Walsh KM, Puca A, et al. (2012) PLoS ONE 7(1): e29848.

Link between genetic variants and extreme old age confirmed, PHG Foundation, January 22

Long life is still (somewhat) in your genes, Science, January 20

Association between Tumor Epidermal Growth Factor Receptor Mutation and Pulmonary Tuberculosis in Patients with Adenocarcinoma of the Lungs.
Luo YH, Wu CH, Wu WS, et al. J Thorac Oncol. 2012 Feb;7(2):299-305.

TB and a gene mutation that causes lung cancer linked, Medical News Today, January 19

Neuraminidase H275Y and hemagglutinin D222G mutations in a fatal case of 2009 pandemic influenza A (H1N1) virus infection
Devries A, Wotton J, Lees C, Boxrud D, Uyeki T, Lynfield R.
Influenza Other Respi Viruses. 2012 Jan 14.

Pertussis pseudo-outbreak linked to specimens contaminated by Bordetella pertussis DNA from clinic surfaces
Mandal S, Tatti KM, Woods-Stout D, Cassiday PK, Faulkner AE, Griffith MM, Jackson ML, Pawloski LC, Wagner B, Barnes M, Cohn AC, Gershman KA, Messonnier NE, Clark TA, Tondella ML, Martin SW.
Pediatrics. 2012 Jan 16.

It's Time for Gene Therapy to Get Disruptive!
Wilson JM. Hum Gene Ther. 2012 Jan;23(1):1-3.

Gene therapy is a 'disruptive science' ready for commercial development, EurekAlert, January 24