Genomics & Health Impact Update

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes, Medscape, November 28 [by free subscription only]

Direct-to-consumer testing: more risks than opportunities.
Lippi G, Favaloro EJ, Plebani M. Int J Clin Pract. 2011 Dec;65(12):1221-9.

Breast cancer patients with lobular cancer more commonly have a father than a mother diagnosed with cancer
Ellberg C, Olsson H. BMC Cancer 2011, 11:497

Genetic, lifestyle factors, and HRT increase risk of breast cancer, News-Medical.Net, November 28

Holidays handy for learning family health history, My Web Times, November 28

Holidays a great time to talk to relatives about health history, Quad-City Times, November 17

This Holiday: Eat, laugh, create a family health tree, Hospitals & Health Networks, November 23

A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women
Vadaparampil ST, et al. J Community Genet 2011 Dec;2(4):211-21

Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies
Sanders DB, et al. J Cyst Fibros 2011 Nov

Genetic testing and screening of individuals at risk of NF2
Evans DG, et al. Clin Genet 2011 Nov

Interest in Newborn Genetic Testing: A Survey of Prospective Parents and the General Public
Etchegary H, et al. Genet Test Mol Biomarkers 2011 Nov

Tracking clinical genetic services for newborns identified through newborn dried  bloodspot screening in the United States-lessons learned
Livingston J, et al. J Community Genet 2011 Dec;2(4):191-200

A re-examination of the use of ethnicity in prenatal carrier testing
Ross LF Am J Med Genet A 2011 Nov

Should Patients Get Direct Access to Their Laboratory Test Results?
Giardina T, Singh H. JAMA 2011 Nov 28

Court battle: Who owns your genes? First Coast News, November 28

Drug approval challenges in the age of personalized cancer treatment, Medscape, November 28 [by free subscription only]

Tell me what’s in my genome! Slate, November 25

Evaluation of the BOADICEA risk assessment model in women with a family history of breast cancer
Stahlbom AK, et al. Fam Cancer 2011 Nov

Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality  control procedures to maintain high data quality
Zuvich RL, et al. Genet Epidemiol 2011 Dec;35(8):887-98

The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients
Birdwell KA, et al. Pharmacogenet Genomics 2011 Nov

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study
Kho AN, et al. J Am Med Inform Assoc 2011 Nov

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Yokoyama S, Woods SL, Boyle GM, et al. Nature. 2011 Nov 13.

Rare variant increases risk to familial and sporadic melanoma, PHG Foundation, November 25

• Genetic epidemiology with a capital E, ten years after
  Khoury MJ, Gwinn M, Clyne M, Yu W. Genet Epidemiol 2011 Dec;35(8):845-52

From pharmacogenomic knowledge acquisition to clinical applications: the PharmGKB as a clinical pharmacogenomic biomarker resource
McDonagh EM, et al. Biomark Med 2011 Dec;5(6):795-806

DNA sequencing caught in deluge of data, The New York Times, November 30

Largest biobank in the US poised to advance knowledge, Medscape, November 30 [by free subscription only]

Interpreting Risk: Direct-to-Consumer Genetic Testing, NCI Cancer Bulletin, November 29

The doctor will see your genome now, Slate, November 25

Sickle cell anemia as malaria defense, The Los Angeles Times, November 25

Genome Medicine announces 'Disease metabolomics' special issue, BioMed Central Blog