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 2, 2012       Volume 29   Number 5

Spotlight

New CDC Feature: Genetic Testing for Hereditary Colorectal Cancer

• EGAPP: Informing the effective integration of genomics into health practice—Lynch syndrome
• CDC Podcast: Genetic Testing for Lynch Syndrome in Colorectal Cancer

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Genomic Pulse

• Lynch Syndrome may affect as many as 800,000 people in the United States, and an estimated 98% of these people may be undiagnosed.

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Announcements

• Direct to Consumer Genetic Tests:
  • CDC Publication: Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice.
    Kolor K, Duquette D, Zlot A, et al. Genet Med. 2012 Jul 19.
  • CDC Blog Post: Think After You Spit: Personal Genomic Tests May Offer a Teachable Moment
  • US company seeks approval for personal DNA tests, PHG Foundation, August 1
  • CDC Podcast: Personal Genomic Tests
• CDC Feature: E. Coli Infection
  • Although most strains of E. coli are harmless, others can make you sick. Learn about E. coli and what you can do to help lower the risk of infection
    
  • CDC Paper: Trends in Population-Based Studies of Human Genetics in Infectious Diseases
  • CDC Blog Post: No genome is an island

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Topics of the Week

Cancer

• Direct-to-Consumer Personal Genome Testing and Cancer Risk Prediction
  Bellcross CA, et al. Cancer J 2012 Jul;18(4):293-302

• Do Breast Cancer Patients Tested in the Oncology Care Setting Share BRCA Mutation Results with Family Members and Health Care Providers?
  Vadaparampil ST, et al. J Cancer Epidemiol 2012;2012:498062

• Surveillance of women at increased risk of breast cancer using mammography and clinical breast examination: further evidence of benefit
  Maurice A, et al. Int J Cancer 2012 Jul;131(2):417-25

• Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas
  Grover S. Kastrinos F, Steyerberg E, et al. JAMA 2012;308(5):485-492

  • Study finds correlation between number of colorectal polyps and genetic mutations, EurekAlert, July 31

Cardiovascular Disease

• Genetic Markers Enhance Coronary Risk Prediction in Men: The MORGAM Prospective Cohorts
  Hughes MF, et al. PLoS One 2012;7(7):e40922

Genomics in Practice

• IRB chairs' perspectives on genotype-driven research recruitment
  Beskow LM, et al. IRB 2012 May-2012 Jun;34(3):1-10

• Stakeholder perspectives on decision-analytic modeling frameworks to assess genetic services policy
  Guzauskas GF, et al. Genet Med 2012 Jul

• Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.
  Lyon GJ, Wang K. Genome Med. 2012 Jul 26;4(7):58.

• Point of care tool to support healthcare providers in discussing non-invasive prenatal testing with patients, NCHPEG, July 31
  • Non-Invasive Prenatal Testing (NIPT) Factsheet

• A global roadmap to address birth defects at the local level, PHG Foundation, July 31

  • The Toolkit- A resource for change

Infectious Diseases

• Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak.
  Köser CU, Holden MT, Ellington MJ, et al. N Engl J Med. 2012 Jun 14;366(24):2267-75.

  • MRSA - rapid whole-genone sequencing impacts on infection control, Medical News Today, July 30

Funding

• Evaluation Support for the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children and Newborn Screening and Early Childhood Screening Programs

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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