Genomics|Update|Current: Public Health Sciences

Genomics|Update|Current

The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic
information and family health history can improve health and influence policy and practice. We highlight
news and information on the use of genomic tests and other applications, including family health history,
in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send
your comments to: genetics@cdc.gov

Public Health Sciences

• Power and predictive accuracy of polygenic risk scores.
  Frank Dudbridge. PLoS Genetics Mar 21


• Inherited mutations in pheochromocytoma and paraganglioma: Why all patients should be offered genetic testing
  Fishbein L, et al. Ann Surg Oncol 2013 Mar


• Nature Genetics presents a collection of 13 papers from COGS, representing a significant advance in our understanding of genetic susceptibility to three hormone-related cancers: breast, ovarian and prostate cancer April 2013


• 74 new susceptibility genes found for breast, ovarian and prostate cancer, Nature Medicine, Spoonful of Medicine Post, 27 Mar 2013


• Predicting the influence of common variants.
  Nature Genetics 45; 339: Mar 27 2013


• Evidence of gene–environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
  Stefan Nickels et al. PLoS Genetics, Mar 27


• Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
  Couch FJ et al. PloS Genetics Mar 27


• Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
  Jason O'Rawe et al. Genome Medicine Mar 27, 2013

• Polygenic risk and the developmental progression to heavy, persistent smoking and nicotine dependence: Evidence from a 4-decade longitudinal study
  Daniel W. Belsky, et al. JAMA Psychiatry online, Mar 27, 2013


• Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss
  Sivakumaran TA, et al. Otolaryngol Head Neck Surg 2013 Mar


• Rhinovirus wheezing illness and genetic risk of childhood-onset asthma
  Minal Çalışkan et al. New England Jorunal Medicine, Mar 27, 2013


• RASSF1A in maternal plasma as a molecular marker of preeclampsia
  Papantoniou N, et al. Prenat Diagn 2013 Mar:1-6


• Public health implications from COGS and potential for risk stratification and screening
  Hilary Burton et al. Nature Genetics 2013; 45: 349-351