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, August 23, 2012       Volume 29   Number 8

Spotlight

CDC Updated List of Genomic Tests by Levels of Evidence: Cancer Genomics

• The Office of Public Health Genomics presents an updated list of genomic tests by levels of evidence taking into account emerging cancer genomic tests
• New Blog post: Evidence Matters in Genomic Medicine- Round 2: Integrating Cancer Genomic Tests
• CDC paper: Current priorities for public health practice in addressing the role of human genomics in improving population health.

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Announcements

• Hepatitis C Testing
  • CDC Recommendations for the Identification of Chronic Hepatitis C Virus Infection Among Persons Born During 1945–1965
  • Baby boomers are 5 times more likely to have Hepatitis C- Talk to your doctor about getting tested
  • CDC recommends that an FDA-approved Hepatitis C Nucleic Acid test should be used to identify active Hepatitis C infection among persons who test anti-HCV positive
  • CDC urges molecular testing as follow up for positive HCV antibody test result, Genome Web, August 21 [by free subscription only]
  • Since 2001, 1252 publications have examined 1218 genes in relation to hepatitis C infection and outcomes including 35 genomewide association studies
  • Interleukin-28B genotype testing suggested to determine response to treatment of hepatitis C but no evidence based recommendations currently exist
• Public Health Genomics in Action: Whole Genome Sequencing of Pathogens in Hospital Outbreak Investigations
  • Tracking a Hospital Outbreak of Carbapenem-Resistant Klebsiella pneumoniae with Whole-Genome Sequencing
    Evan S. Snitkin et al (NIH)Sci Transl Med 22 August 2012
    • NIH uses genome sequencing to help quell bacterial outbreak in clinical center, NIH News, August 22
    • Genome detectives solve a hospital’s deadly outbreak, The New York Times, August 22
  • Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak.
    Köser CU et al N Engl J Med. 2012 Jun 14;366(24):2267-75.
  • Commentaries:
    Routine Use of Microbial Whole Genome Sequencing in Diagnostic and Public Health Microbiology
    PLoS Pathogenes 2012; August 12
    
    Are diagnostic and public health bacteriology ready to become branches of genomic medicine?
    Genome Medicine 2011, 3:53 
• Nature and nurture in Human Disease: Genes and Environments
  • “Your ZIP code is more important than your genetic code” for your health
  • Zip code or genetic code? Pies or stews? CDC Blog: Understanding genetic and environmental causes of human disease
  • HuGENavigator and gene-environment interaction:

    Since 2001, the HuGENavigator has collected information on more than 73000 articles on genetic factors in human diseases. Less than 1 in 5 of these studies assess genetic and environmental factors. Search the Phenopedia  by disease and look for gene-environment interaction

  • Recent publications:
    Gene-environment interactions in the development of type 2 Diabetes: recent progress and continuing challenges Cornelis MC and Hu F, Annual Review of Nutrition 2012 Vol. 32: 245-259
    
    Air pollution, genetics, and allergy: an update. Carlsten C, Melen E. Curr Opin Allergy Clin Immunol. 2012 Aug 9.

• Type 2 Diabetes, Genes and Family History
  • A meta analysis report first use Metabochip to characterize genetic architecture type 2 diabetes, glycemic traits
  • Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
    Scott RA, Lagou V, Welch RP, et al. Nat Genet. 2012 Aug 12.
  • Ten new gene regions linked to diabetes, PHG Foundation, August 22
  • Genetic clues for type 2 diabetes, Medical Xpress, August 14
  • Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) reveal new genetic regions influencing blood glucose traits, Wellcome Trust Sanger Institute, August 12
  • Since 2001, 2615 publications have assessed 3270 genes for risk of type 2 diabetes, including 101 GWAS and 201 meta analyses
  • Knowing your family history of diabetes is still more useful than testing for many genetic variants related to diabetes
  • Does diabetes run in your family? Take steps towards better health!
  • CDC Diabetes Public Health Resource

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Topics of the Week

Cancer

• Life Events may Contribute to Family Communication About Cancer Risk Following BRCA1/2 Testing
  Lapointe J, et al. J Genet Couns 2012 Aug

Evaluation of Genomic Tests

• Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012
  Mayer K, et al. Eur J Hum Genet 2012 Aug

• Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) -  update 2012
  Rahner N, et al. Eur J Hum Genet 2012 Aug

Policy and Legislation

• Federal circuit judges considered USPTO policy, industry impact in ruling on Myriad's gene patents, Genome Web, August 20 [by free subscription only]

  • US court upholds human gene patents, PHG Foundation, August 17
  • Court reaffirms right of Myriad genetics to patent genes, The New York Times, August 16 16 [by free subscription only]

Newborn Screening

• Factors associated with knowledge of and satisfaction with newborn screening education: a survey of mothers
  Araia MH, et al. Genet Med 2012 Aug

• Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy
  Sobczynska-Tomaszewska A, et al. Eur J Hum Genet 2012 Aug

Guidelines and Recommendations

• Quality in genetic counselling for presymptomatic testing - clinical guidelines for practice across the range of genetic conditions
  Skirton H, et al. Eur J Hum Genet 2012 Aug

Genomics in Practice

• Assessing Personalized Medicines in Australia: A National Framework for Reviewing Codependent Technologies
  Merlin T, et al. Med Decis Making 2012 Aug

• Consumer Perspectives on Genetic Testing for Psychiatric Disorders: The Attitudes of Veterans with Posttraumatic Stress Disorder and Their Families
  Dedert EA, et al. Genet Test Mol Biomarkers 2012 Aug

• Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates
  Finney Rutten LJ, et al. J Cancer Epidemiol 2012;2012:309109

• "I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
  Townsend A, et al. Am J Med Genet A 2012 Aug

Funding

• Family Health History Tool Awareness and Screening Project, FedBizOpps.gov

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