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 13, 2012       Volume 29   Number 11

Spotlight

Genomics, Surveillance Indicators and the Healthy People Initiative

• CDC new 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)
  

 

Cholesterol Education, Family History and Familial Hypercholesterolemia

• CDC Feature: National Cholesterol Education Month
• CDC Podcast on Familial Hypercholesterolemia
• September is National Cholesterol Education Month. Take steps to control your cholesterol.
• 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

 

Obesity: Genes and Environments

• What's the Main Cause of Obesity -- Our Genes or the Environment?
  • Are the causes of obesity primarily environmental? No
  • Are the causes of obesity primarily environmental? Yes
• CDC Blog: Shall we have pie or stew: genetic and environmental causes of disease
• CDC Information: Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese
• CDC Information: Genes and obesity
  

 

September 2012 is Ovarian Cancer Month

• Presidential Proclamation: September 2012 as National Ovarian Cancer Awareness Month.
• CDC information: Ovarian cancer
• CDC information: Breast and ovarian cancer and family health history
• CDC quick facts: Family health history and genetic testing for breast and ovarian cancer
• CDC paper: Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians
• CDC podcast: Hereditary Breast and Ovarian Cancer: BRCA and Your Patient
• U.S. Preventive Services Task Force Issues Final Recommendation on Screening for Ovarian Cancer [PDF 185.90 KB], USPSTF Bulletin, September 11
• Screening for Ovarian Cancer: U.S. Preventive Services Task Force Reaffirmation Recommendation Statement
  Moyer VA Ann Intern Med 2012 Sep
• USPSTF recommends against ovarian cancer screening. Women with increased risk of family history should be considered for genetic counseling

 

EGAPP Working Group News

• Sept 10-11, CDC hosted the 25th meeting of the EGAPP working group- a unique approach to evidence-based genomic medicine
• New EGAPP methods update paper: improving efficiency & relevance of evidence-based recommendations in the era of WGS
• EGAPP working group discussed prostate cancer, colorectal cancer, whole genome sequencing, clopidogrel and familial hypercholesterolemia

 

CDC Blog Post: Now Watch This: Genomic Epidemiology

• Köser CU, Ellington MJ, Cartwright EJP, Gillespie SH, Brown NM, Farrington M, et al. (2012) Routine Use of Microbial Whole Genome Sequencing in Diagnostic and Public Health Microbiology. PLoS Pathogens 8(8): e1002824.
• Loman NJ, Constantinidou C, Chan JZ, Halachev M, Sergeant M, Penn CW, Robinson ER, Pallen MJ. High-throughput bacterial genome sequencing: an embarrassment of choice, a world of opportunity. Nat Rev Microbiol. 2012 Aug 6.
• Genomic medicine steps closer to the clinic
  Lancet. 2012 Sep 1;380(9844):780.

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Topics of the Week

Cancer

• Familial pituitary adenomas - who should be tested for AIP mutations?
  Korbonits M, Storr H, Kumar AV. Clin Endocrinol (Oxf). 2012 Sep;77(3):351-6.

• Fumbled DNA tests mean peril for breast-cancer patients, Bloomberg, September 10

• Comprehensive genomic characterization of squamous cell lung cancers
  Govindan 2012 Nature Sept 9

  • TCGA discovers potential therapeutic targets for lung squamous cell carcinoma, NCI, September 10
  • Cancer study points to tighter pairing of drugs and patients, The New York Times, September 9
• Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)
  Pijpe A, Andrieu N, Easton DF, et al. BMJ. 2012 Sep 6;345:e5660.
  • X-rays may up breast cancer risk for women with certain genes: Study, Health Day, September 7
• Long-Range PCR and Next-Generation Sequencing of BRCA1 and BRCA2 in Breast Cancer.
  Ozcelik H, Shi X, Chang MC, et al. J Mol Diagn. 2012 Sep;14(5):467-75.
  • New BRCA1 and BRCA2 test may be more accurate, less expensive, Breast Cancer.org, September 5

Genomic Testing

• Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
  Skafidas E, Testa R, Zantomio D, et al. Mol Psychiatry. 2012 Sep 11.

• Questioning the limits of genomic privacy
  Knoppers BM, et al. Am J Hum Genet 2012 Sep;91(3):577-8
• Genomic Medicine: Evolving Science, Evolving Ethics
  Soden S, Farrow E, Saunders C, et al. Personalized Medicine. 2012;9(5):523-528
• CDC Report: Tuberculosis Genotyping — United States, 2004–2010
  MMWR 2012 Sep. 14; 61(36);723-725

Genomics in Practice

• Consumer gene tests poised for regulatory green light
  Mullard A. Nat Med. 2012 Sep 7;18(9):1306.

• Ethics: Genetic testing for MEN1-whose responsibility?
  Lips CJ & Hoppener JW Nat Rev Endocrinol 2012 Sep

• Original Investigation Pharmacogenetic Smoking Cessation Intervention in a Health Care Setting: A Pilot Feasibility Study
  McClure JB, et al. Nicotine Tob Res 2012 Sep

• Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans
  Candotti F, Shaw K, Muul L, et al. 2012 Blood Sept 11

  • NIH researchers restore children's immune systems with refinements in gene therapy, NIH News, September 11

Guidelines and Recommendations

• Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
  Thakker RV, Newey PJ, Walls GV, et al.J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011.

• Evaluation and treatment of hypertriglyceridemia: an endocrine society clinical practice guideline
  Berglund L, et al. J Clin Endocrinol Metab 2012 Sep;97(9):2969-89

• Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening
  Langer A, et al. BMC Health Serv Res 2012 Sep;12(1):300

Newborn Screening

• Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis?
  Moseley K, Nasr S, Schuette J, et al. 2012 Journal of Genetic Counseling

  • Parents of babies with sickle cell trait are less likely to receive genetic counseling, study says, EurekAlert, September 11

Public Health Sciences

• Personalized Medicine in a Phase I Clinical Trials Program:The MD Anderson Cancer Center Initiative
  Tsimberidou AM, et al. Clin Cancer Res 2012 Sep

• PharmGKB summary: zidovudine pathway
  Ghodke Y, et al. Pharmacogenet Genomics 2012 Sep

• The changing privacy landscape in the era of big data
  Schadt E. Molecular Systems Biology 8:612
  
  

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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