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, April 12, 2012       Volume 28   Number 15

Highlights of the Week:

Spotlight

New Blog Post: Ushering Public Health Practice into the 21^st Century

• Special issue of the journal Public Health Genomics: Using Genetic Information to Improve Health Now and in the Future
• New IOM report: For the public’s health: investing in a healthier future
• Recent blog: What is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics

 

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Announcements

• CDC Funding Announcement: Hemoglobinopathies Surveillance, Health Promotion, and Lab Capacity Demonstration Project
• New CDC Recommendations Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders
• April is Autism Awareness Month
  • New Data on Autism Spectrum Disorders, CDC Feature
  • Autism: New Training for Health Professionals, CDC Feature
  • Autism Spectrum Disorders: One Family's Story, CDC Feature
• April is Minority Health Month
  • April 2012 marks the first anniversary of the launch of the HHS Action Plan to Reduce Racial and Ethnic Health Disparities and the National Stakeholder Strategy for Achieving Health Equity
    “Health is determined by a complex interaction of biological, genetic, social, environmental, and developmental factors. Advances in science and scientific methods, particularly in our understanding of genetics and epigenetics, have greatly enhanced our ability to document and explore these interactions.” (Section 2, Page 93 [PDF 2.43 MB])
  • Finding a place for genomics in health disparities research.
    Fullerton SM, Knerr S, Burke W. Public Health Genomics. 2012;15(3-4):156-63.
    
• April is Cancer Control Month
  • Breast and Ovarian Cancer and Family Health History
  • CDC Podcast on Hereditary Breast and Ovarian Cancer
  • Lynch Syndrome EGAPP Recommendation
  • CDC Podcast on Lynch syndrome
    

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Genomic Pulse

• Since 2001, 410 genes in relation to autism have been described in 244 publications by 1450 scientists from 28 countries around the world. Over 80% of these studies were published since the beginning of 2006, including 9 genome-wide association studies and 5 meta analyses. To find out more, visit the HuGE Navigator

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Picks of the Week

• Progress in unraveling the genetics of autism
  • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    Sanders S, Murtha M, Gupta A, et al.  Nature 2012 Apr 4
    • Scientists link gene mutation to autism risk, The New York Times, April 4
  • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    O’Roak B, Vives L, Girirajan S, et al. Nature 2012 Apr 4
  • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Neale B, Kou Y, Liu L, et al. Nature 2012 Apr 4
    • More pieces in the genetic puzzle of autism, PHG Foundation, April 11
    • Autism studies confirm genetic complexity and risk for older fathers, Time, April 5
    • Spontaneous gene glitches linked to autism risk with older dads, NIH News, April 4
  • The autism wars, The New York Times, April 7
  • Autism researchers zeroing in on a genetic cause, NPR, April 5
  • Gene studies begin to unravel autism puzzle, Medscape, April 4 [by free subscription only]
  • Multiple strikes against autism, The Scientist, April 4
• CDC paper-Folic acid genetic variants associated with lower risk of cardiovascular mortality
  • Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
    Yang Q, Bailey L, Clarke R, et al. Am J Clin Nutr May 2012
• CDC paper-Clinical utility of cancer genomic tests is in the eye of the stakeholders
  • Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies.
    Deverka PA, Schully SD, et al. Genet Med. 2012 Apr 5.
• Managing incidental findings in genetics research
  • Special issue of Genetics in Medicine dedicated to "Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks and Archived Data Sets"
• Online tool to guide decisions for BRCA1 carriers
  • Online tool to guide decisions for BRCA1/2 mutation carriers.
    Kurian AW, Munoz DF, Rust P, et al.. J Clin Oncol. 2012 Feb 10;30(5):497-506.
    • Online tool helps those with BRCA mutations understand options, Medical Xpress, April 9
      
      

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Topics

Genomic Tests

For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.

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Family Health History

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Practice and Programs

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Policy and Legislation

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Public Health Science

337 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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Events and Training

Building an Accurate Family History, Constructing a Pedigree -- An Overview for Primary Care
April 26 ~ Webinar

Biomarker discovery: Driving technologies
May 17 ~ London, UK

Ordering the Right Tests -- Genetics in Primary Care
May 31 ~ Webinar

Access other events

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