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, February 7, 2013       Volume 30   Number 6

Spotlight

World Cancer Day

• World Health Organization: Cancer is a leading cause of death worldwide. 7.6 million people died from cancer worldwide in 2008- Half of countries worldwide do not have a functional cancer control plan that incl. prevention, early detection, treatment and care
• CDC feature: World Cancer Day
• National Cancer Institute: World Cancer Day: Learn about the global burden of cancer
• CDC information: Breast and ovarian cancer and family health history
• CDC information: Genomics and health-colorectal cancer awareness
• How can genomics and family history be used today to reduce the burden of cancer? A CDC evidence-based approach to genomic applications in practice

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Features of the Week

February is Heart Disease Month

• CDC feature: February is American Heart Month-Heart disease is preventable and controllable
• CDC feature:  Women and heart health awareness
• CDC information: Heart disease and family history
• CDC information: How we can use genomics and family history to reduce the burden of heart disease: an evidence-based approach
• CDC feature: African American History Month-African Americans are at higher risk of heart disease and stroke than other groups
• CDC podcast: Cascade screening for familial hypercholesterolemia
• If you have a family history of early heart disease you need cholesterol screening starting at age 20: recommendations from the USP Preventive Services Task Force
• CDC blog: A Million hearts, a thousand genes and your family history
  

Healthy People 2020: Review of Progress in Cancer & Genomics

• What is Healthy People 2020? Healthy people provides science-based, 10-year national objectives for improving the health of all Americans. Healthy people 2020 establishes benchmarks and monitors progress over time. To find out more
• Healthy People 2020 Progress Review: Cancer and Genomics Topic Areas February 6, 2013 -Recorded webinar available soon
• Did you know that 2 tier 1 genomic applications (BRCA and Lynch syndrome) are included in  Healthy People 2020 objectives?
• CDC blog post: What gets measured gets done: Genomics and Healthy People 2020

The Human Genome Epidemiology Network (HuGENet)

• What is HuGENet? For more than a decade, HuGENet has advanced a population perspective on human genetic variation in health and disease through data synthesis, interpretation, and dissemination  
• HuGE Navigator: A searchable, online knowledge base in human genome epidemiology, updated weekly from PubMed
• Published HuGENet recommendations for enhancing the reporting, synthesis, and translation of human genome epidemiology research
• HuGENet Self-guided online case studies for teaching concepts in human genome epidemiology.
• HuGENet Published guidelines, methods, analyses, and commentaries in human genome epidemiology

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Diseases of the Week

Stroke

• American Heart Association new public service announcement to teach  ‏Americans how to spot a stroke F.A.S.T. (Face drooping, Arm weakness, Speech difficulty, Time to call 911)
• Check out this F.A.S.T. infographic
• CDC stroke information: Stroke is a leading cause of death in the United States.
• CDC stroke information: Genomics and family history
• American Stroke Association Meeting Report - Tuesday, Feb, 5, 2013: Many African-Americans with family history of stroke don't acknowledge risks
• Did you know that more than 900 genes have been studied in relation to risk of stroke? This includes 47 genomewide association studies. To find out more, visit the HuGENavigator
  

Rheumatoid Arthritis

• Rheumatoid Patient Foundation: February 2 was Rheumatoid Awareness Day
• CDC information on rheumatoid arthritis
• Since 2001, there have been 1431 publications on genetic factors in rheumatoid arthritis, involving 769 genes. Publications include 50 genomewide association studies. To find out more, visit the HuGENavigator

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Select Events

• NIH Rare Disease Day February 28- March 1, 2013

• What about privacy and progress in whole genome sequencing? Webinar Series, Genethics.ca
  

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Reports and Publications

Cancer

• 10 rare tumors that warrant a genetics referral
  Banks K. Familial Cancer Vol 12, Issue 1:1-18

• Genetic testing for hereditary melanoma and pancreatic cancer: a longitudinal study of psychological outcome
  Aspinwall LG, et al. Psychooncology 2013 Feb;22(2):276-89

• Genetic studies provide new insights into breast cancer biology and treatment
  Tracy Hampton, JAMA Feb 6

• Improvement in the quality of molecular analysis of EGFR in non-small-cell lung cancer detected by three rounds of external quality assessment
  Deans ZC, et al. J Clin Pathol 2013 Feb

• Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral
  Bellcross CA, et al. Cancer Epidemiol Biomarkers Prev 2013 Jan

• Risks of colorectal and other cancers after endometrial cancer for women with lynch syndrome.
  Win AK, et al. J Natl Cancer Inst. 2013 Feb 5

• Screening patterns in patients with a family history of colorectal cancer often do not adhere to national guidelines
  Lin OS, et al. Dig Dis Sci 2013 Jan

• Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy?
  Narod SA, et al. Breast Cancer Res Treat 2013 Feb

• Stratified cancer screening: The practicalities of implementation
  Dent T, et al. Public Health Genomics 2013 Jan

  
  

Ethics

• Arrivederci, GINA, Center for Genetics and Society, Alex Philippidis, Feb 4
  
• Questions that will remain unanswered from the US Supreme Court gene patent case,  R Cook-Deegan Feb 6
• Genetic privacy front and center at Supreme Court, Wired, Feb 6

Genomics in Practice

• 2012 highlights in translational ‘omics [PDF 411.03 KB]
  Charles Auffray, Timothy Caulfied, Muin J Khoury, et al. Genome Medicine Jan 2013
• Journal of Nursing Scholarship special issue articles on genomics and health care
  • A blueprint for genomic nursing science
    Calzone KA, et al. J Nurs Scholarsh 2013 Jan
  • Ethical, legal, and social issues in the translation of genomics into health care
    Badzek L, et al. J Nurs Scholarsh 2013 Jan
  • Implications of newborn screening for nurses
    Deluca J, et al. J Nurs Scholarsh 2013 Jan
• FDA pursuing personalized medicine agenda, New York Genome Center Blog, Feb 6  

• Genetic discrimination and life insurance: a systematic review of the evidence
  Joly Y, et al. BMC Med 2013 Jan;11(1):25

• Use of a web-based risk appraisal tool for assessing family history and lifestyle factors in primary care
  Baer HJ, et al. J Gen Intern Med 2013 Jan

  • Web-based tools, EHRs help physicians identify genetic risks, EHR Intelligence, Feb 4

Genomic Tests

• Clinical utility gene card for: Gorlin syndrome - update 2013
  Muzio LL, et al. Eur J Hum Genet 2013 Jan

Guidelines and Recommendations

• BRAF mutation testing algorithm for vemurafenib treatment in melanoma: recommendations from an expert panel
  Gonzalez D, et al. Br J Dermatol 2013 Jan

• Incidental genetic findings in randomized clinical trials: recommendations from the Genomics and Randomized Trials Network (GARNET)
  Bookman EB, et al. Genome Med 2013 Jan;5(1):7

Newborn Screening

• Expectations and values about expanded newborn screening: a public engagement study
  Hayeems RZ, et al. Health Expect 2013 Feb

Pharmacogenomics

• Pharmacogenetics in the evaluation of new drugs: a multiregional regulatory perspective
  Maliepaard M, et al. Nat Rev Drug Discov 2013 Feb;12(2):103-15

Public Health Sciences

• Phenome-wide association study (PheWAS) for detection of pleiotropy within the population architecture using genomics and epidemiology (PAGE) network.
  Ritchie MD, et al. PLoS Genetics Jan 31

• Early detection of abnormal prion protein in genetic human prion diseases now possible using real-time QUIC assay
  Sano K, et al. PLoS One 2013;8(1):e54915

• The prognostic value of epigenetic silencing of p16 gene in NSCLC patients: A systematic review and meta-analysis
  Lou-Qian Z, et al. PLoS One 2013;8(1):e54970

Reviews and Commentaries on Science & Technology

• Database tools in genetic diseases research.
  Bianco AM, et al. Genomics 101 (2013) 75–85
• Four barriers that must fall before the personalized medicine revolution can start, Jan 28 by Asadi, Narges Bani
• Genomic transition of enterococci from gut commensals to leading causes of multidrug-resistant hospital infection in the antibiotic era.
  Michael S Gilmore et al. Current Opinion Microbiology, Feb 2013
• The microbiome explored: recent insights and future challenges.
  Blaser M, et al. Nat Rev Microbiol. 2013 Feb 4
• Where’s the heritability? Right where you’d expect—if you look close enough, The Molecular Ecologist, Feb 6
  
• RNA fragments may yield rapid, accurate cancer diagnosis, Scientific American b,y William Ferguson, Jan 30
• Who knew? Gut bacteria contribute to malnutrition,Francis Collins, Feb 5, 2013
• Genomic analysis, the office edition, by A. Eisenberg New York Times: Feb 2
• Advanced DNA sequencing is poised to provide pathologists with a new tool for the management of infection control in hospitals, Dark Daily Post, Feb

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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