Genomics & Health Impact Update

Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive this update electronically every week sign-up here.

Thursday, September 20, 2012       Volume 29   Number 12

Spotlight

Genomics and Evidence-based Practice

• CDC new blog: More Workings of an Evidence-Based Genomic Panel: Modernizing the Evidence Review Process
• Sept 10-11, CDC hosted the 25th meeting of the EGAPP working group- a unique approach to evidence-based genomic medicine
• EGAPP methods update: Improving efficiency & relevance of evidence-based recommendations in the era of WGS
  

Genomics, Evidence Levels and Public Health Action

• New CDC article: Public Health Action in Genomics Is Now Needed beyond Newborn Screening
  Bowen MS, Kolor K, Dotson WD, et al. Public Health Genomics 2012 Sept 11
• Genomic Tests by Levels of Evidence

Genomics and Heart Disease

• New CDC feature: Genomics and Heart Disease
  Available in both English and Spanish and also on Facebook
• Cholesterol screening is recommended to begin at age 20 for adults with family history of early heart disease(< age 50 years in men & < 60 years in women)
• What do you know about familial hypercholesterolemia?
• September 20th is Familial Hypercholesterolemia Awareness Day
• American Heart Association: It’s all in the family (history). Learn how your roots could impact your heart health with the Go Red Better U program

Genomics, Surveillance Indicators and the Healthy People Initiative

• CDC blog: What Gets Measured Gets Done: Genomics, Surveillance Indicators and Healthy People 2020
• Healthy People 2020: 10-year national objectives for improving the health of all Americans
• CDC blog: Feeling the genomics pulse of the United States
• Public health genomics surveillance data from selected states (2001-2010)
• CDC article: Public health surveillance in the United States: evolution and challenges.
  Thacker SB, Qualters JR, Lee LM, et al. MMWR Surveill Summ. 2012 Jul 27;61:3-9.

Personal Genomics and Personalized Medicine

• NPRNews "It is not theoretical or futuristic. It is today. And it is everyone," Is personal genomics ready?
• NPRNews: The upside & downside of human  of human genome sequencing” will it improve health outcomes?
• FDA consumer update:  Personalized Medicine Will Fit You Like a Glove
• CDC Blog: Having our cake and eating it too: the whole genome sequence in clinical and public health practice
• G2P: An example of Research in Translational Genomics and Health Outcomes include MEDSEQ project
• PHG foundation: Do patients have a right to access their clinical sequence data?

Genetics and Primary Care Practice

• The 10-part webinar series is to increase awareness and education regarding the provision of genetic medicine in primary care practice. It is designed for primary care clinicians, pediatricians, pediatric sub-specialists, family physicians, nurse practitioners, genetic counselors, geneticists, and other stakeholders.
• The next webinar “Genetics and Coding: What the Primary Care Provider Needs to Know” will take place on Thursday, September 27 from 12-12:30pm Central
• Previous webinar presentations include:
  • Archived: Integrating Genetics in Primary Care -- Why Does it Matter?
  • Archived: Building an Accurate Family History, Constructing a Pedigree -- An Overview for Primary Care
  • Archived: Ordering the Right Tests -- Genetics in Primary Care
  • Archived: Myths of Primary Care Providers and Patients/Families Regarding Genetics -- Setting the Record Straight

 

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Topics of the Week

Cancer

• Barriers and facilitators to BRCA genetic counseling among at-risk Latinas in New York City
  Sussner KM, et al. Psychooncology 2012 Sep

• Cost-effectiveness of the 21-gene recurrence score assay in the context of multifactorial decision making to guide chemotherapy for early-stage breast cancer
  Reed SD, et al. Genet Med 2012 Sep

• Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer
  Wakefield CE, et al. Genet Med 2012 Sep

• Legal Liability and the Uncertain Nature of Risk Prediction: The Case of Breast Cancer Risk Prediction Models
  Black L, et al. Public Health Genomics 2012 Sep

• Prediction of breast cancer risk by genetic risk factors, overall and by hormone  receptor status
  Husing A, et al. J Med Genet 2012 Sep;49(9):601-8

• Using the 21-gene assay to guide adjuvant chemotherapy decision-making in early-stage breast cancer: a cost-effectiveness evaluation in the German setting
  Blohmer JU, et al. J Med Econ 2012 Sep

• X-Ray Repair Cross-Complementing Group 1 (XRCC1) Genetic Polymorphisms and Cervical Cancer Risk: A HuGE Systematic Review and Meta-Analysis
  Li Y, et al. PLoS One 2012;7(9):e44441

• Individuality in FGF1 expression significantly influences platinum resistance and progression-free survival in ovarian cancer
  Smith G, Ng M, Shepherd L, et al. British Journal of Cancer, 2012 Sept 18

  • Gene activity predicts ovarian cancer chemotherapy response, PHG Foundation, September 19
• Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project.
  Schleiermacher G, Mosseri V, London WB, et al. Br J Cancer. 2012 Sep 13.
  • Best treatment option for childhood cancer offered by whole-genome scan, Medical News Today, September 18
• Genomic landscape of non-small cell lung cancer in smokers and never-smokers.
  Govindan R, Ding L, Griffith M, et al. Cell. 2012 Sep 14;150(6):1121-34.
  • Smokers with lung cancer have tenfold genetic damage, Medical News Today, September 17

Cardiovascular Disease

• A gender-specific blood-based gene expression score for assessing obstructive coronary artery disease in nondiabetic patients: Results of the Personalized Risk Evaluation and Diagnosis in the Coronary Tree (PREDICT) Trial
  Lansky A, et al. Am Heart J 2012 Sep;164(3):320-6

Funding

• New NIH/NHGRI grants to harness nanoscale technologies to cut DNA sequencing costs, NIH News, September 14

Genomic Testing

• Clinical utility gene card for: Pseudohypoparathyroidism
  Mantovani G, et al. Eur J Hum Genet 2012 Sep

• Cost-effectiveness of pharmacogenetics in anticoagulation: international differences in healthcare systems and costs
  Verhoef TI, et al. Pharmacogenomics 2012 Sep;13(12):1405-17

• Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.
  Skafidas E, Testa R, Zantomio D, et al. Mol Psychiatry. 2012 Sep 11.
  • Genetic test predicts risk for autism, Medical News Today, September 14

Public Health Sciences

• Immune genes are associated with human glioblastoma pathology and patient survival
  Vauleon E, et al. BMC Med Genomics 2012 Sep;5(1):41

• FTO genotype is associated with phenotypic variability of body mass index
  Yang J, Loos R, Powell J, et al. Nature 2012 Sept 16
  • Single change in genetic sequence can significantly impact BMI variability, Medical Xpress, September 17

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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