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 30, 2012       Volume 29   Number 9

Spotlight

Public health genomics in action: Newborn screening

• CDC feature: Newborn screening can help prevent problems
• Secretary's Advisory Committee on Heritable Disorders in Newborns and Children recommends 31 conditions for a universal newborn screening panel
• CDC Grand Rounds: newborn screening and improved outcomes
• List of recommended “tier 1” genomic applications starts with newborn screening but now includes other conditions  
• Newborn screening and whole genome sequencing: NIH funding announcement
  

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
• Since 2009, genomic tests for cancer treatment, prognosis & prevention account for most emerging genomic tests
• Cancer genomic tests & highest level of evidence (e.g., BRCA, Lynch, HER2, EGFR) can improve health for thousands
• How can we accelerate the movement of cancer genomic tests from discovery to practice? A population approach
  

Family health history included in stage 2 meaningful use of electronic health records. Read the CMS Final Rule, page 633. [PDF 1.80 MB] Read the ONC Final Rule, page 456. [PDF 1.25 MB]

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Topics of the Week

• Public health: the big idea
  • BMJ Essay: Public health of the 21st century must integrate, biological, social, and cultural aspects of health
  • CDC Blog: Ushering public health practice into the 21st century
  • IOM Report: For the public's health: investing in a healthier future
• New August 2012 horizon scan report, includes genetic tests on pages 66, 117 & 400, available from AHRQ [PDF 3.83 MB]
• CDC National Cancer Conference Poster Abstract winner
  • Abstract #131: Health Insurance Medical Policy for Genetic Counseling and Testing for Hereditary Breast/Ovarian Cancer - Juan Rodriguez, CDC, Lucy Peipins, CDC, Nikki Hawkins, CDC and Florence Tangka, CDC.

• Cancer
  • The utility of molecular diagnostics to predict recurrence of head and neck carcinoma
    Pena Murillo C, et al. Br J Cancer 2012 Aug
  • Genetic Variants in the PI3K/PTEN/AKT/mTOR Pathway Predict Head and Neck Cancer Patient Second Primary Tumor/Recurrence Risk and Response to Retinoid Chemoprevention.
    Hildebrandt MA, Lippman SM, Etzel CJ, et al. Clin Cancer Res. 2012 Jul 1;18(13):3705-13.
    • Preventing head and neck tumors the genetic way, Medscape, August 28 [by free subscription only]

• Cardiovascular Disease
  • Familial hypercholesterolemia in children and adolescents.
    McCrindle BW. Curr Opin Lipidol. 2012 Aug 21.
• Family History
  • Family history of premature death and risk of early onset cardiovascular disease
    Ranthe MF, et al. J Am Coll Cardiol 2012 Aug;60(9):814-21
  • The Impact of Family History on the Risk of Colorectal Neoplasia: Don't Change the Guidelines Just Yet!
    Samadder NJ, Cannon-Albright LA, Burt RW. Dig Dis Sci. 2012 Aug 25.
• Funding
  • NIH funding: Human Heredity and Health in Africa (H3Africa): Collaborative Centers
  • Genetic and Genomic Analysis and Policy Fellowship Program, FedBizOpps.gov, August 24
• Genetic Testing
  • Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing: A Report of the Association for Molecular Pathology
    Schrijver I, et al. J Mol Diagn 2012 Aug
  • Reliable and Sensitive Detection of Fragile X (Expanded) Alleles in Clinical Prenatal DNA Samples with a Fast Turnaround Time
    Seneca S, et al. J Mol Diagn 2012 Aug
  • Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome as an Example
    Pohjola P, et al. Genet Test Mol Biomarkers 2012 Aug
• Genomics in Practice
  • Clinical decision support for genetically guided personalized medicine: a systematic review
    Welch BM & Kawamoto K J Am Med Inform Assoc 2012 Aug
  • Physicians' Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families
    Reiff M, et al. Clin Genet 2012 Aug
  • Strategies for Personalized Medicine-Based Research and Implementation in the Clinical Workflow
    Lieb W, et al. Clin Pharmacol Ther 2012 Aug
• Public Health Sciences
  • Support of the 'fallopian tube hypothesis' in a prospective series of risk-reducing salpingo-oophorectomy specimens
    Reitsma W, et al. Eur J Cancer 2012 Aug
  • Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans.
    Beyan H, Down T, Ramagopalan S, et al. Genome Res. 2012 Aug 23.
    • Guthrie cards could provide invaluable epigenetic archive, PHG Foundation, August 29
  • Genes now tell doctors secrets they can’t utter, The New York Times, August 25 [by free subscription only]

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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