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, July 12, 2012       Volume 29   Number 2

Spotlight

July is National Hemochromatosis Awareness Month

• CDC Feature: Hemochromatosis: Online Training   

 

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Genomic Pulse

• Hereditary hemochromatosis remains the most common, identified, genetic disorder in populations of northern European origin with a prevalence of approximately 1 per 220-250 individuals.

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Tweets of the Week:

• Follow Dr. Khoury on Twitter

  • CDC healthy living tips for you & your child http://www.cdc.gov/Features/ChildHealth/ include knowing family health history http://www.cdc.gov/ncbddd/pediatricgenetics/family_history.html

  • July is #hemochromatosis month: learn how to identify & treat this genetic disorder http://www.cdc.gov/features/HemochromatosisAwareness/

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Announcements

• CDC Feature: Healthy living tips for you and your child
  • Family health history and your child
• New Publication: A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
  Jonsson T, Atwal J, Steinberg S, et al 2012 Nature Jul 11
  • Gene mutation defends against Alzheimer’s disease, Nature News, July 11
• President Obama signed the Food and Drug Administration Safety and Innovation Act (FDASIA)
  • Obama signs FDA user fee legislation bringing hope to rare disease patients, PR Newswire, July 10
    
• Blog Post: Peeling the pyramid, scaling the onion—how to implement genomic medicine

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Topics of the Week

Cancer

• Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome
  Serrano M, et al. Fam Cancer 2012 Jul
• Clinical Validity/Utility, Change in Practice Patterns, and Economic Implications of Risk Stratifiers to Predict Outcomes for Early-Stage Breast Cancer: A Systematic Review
  Hornberger J, et al. J Natl Cancer Inst 2012 Jul
• Collaborative Ocular Oncology Group Report Number 1: Prospective Validation of a Multi-Gene Prognostic Assay in Uveal Melanoma.
  Onken MD, Worley LA, Char DH, et al. Ophthalmology. 2012 Apr 20.
  • A life-death predictor adds to a cancer’s strain, The New York Times, July 9
• A new treatment’s tantalizing promise brings heartbreaking ups and downs, The New York Times, July 8
• In treatment for leukemia, glimpses of the future, The New York Times, July 7

• Conventional cancer therapy and whole genome sequencing, The New York Times, July 8

• FDA approves genetic test to help some colon cancer patients, physicians considering Erbitux therapy, FDA, July 6
  • FDA approves genetic test for KRAS mutation in CRC patients, Medscape, July 6

Cardiovascular Disease

• Cost-Effectiveness of Dabigatran versus Genotype-Guided Management of Warfarin Therapy for Stroke Prevention in Patients with Atrial Fibrillation
  You JH, et al. PLoS One 2012;7(6):e39640

• Warning symptoms and family history in children and young adults with sudden cardiac arrest
  Drezner JA, et al. J Am Board Fam Med 2012 Jul;25(4):408-15

Genetic Testing in Practice

• To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk.
  Rahman B, Meiser B, Sachdev P, et al. Genet Test Mol Biomarkers. 2012 Jun 25.

• 23 and You? Genome research, direct-to-consumer genetics and informed consent, Bio News, July 9

• Direct-to-consumer genetic testing for health-related purposes in the European Union: the view from EASAC and FEAM [PDF 861.89 KB]
  • New policy recommendations for DTC genetic testing, PHG Foundation, July 9

Newborn Screening

• Birth prevalence of disorders detectable through newborn screening by race/ethnicity
  Feuchtbaum L, et al. Genet Med 2012 Jul

• Enhanced interpretation of newborn screening results without analyte cutoff values
  Marquardt G, et al. Genet Med 2012 Jul;14(7):648-55

Prenatal Testing

• From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges.
  Bianchi DW. Nat Med. 2012 Jul 6;18(7):1041-51.
  • Researcher outlines clinical challenges with new genomic prenatal Dx technologies, Genome Web, July 6 [by free subscription only]
• Non-invasive prenatal measurement of the fetal genome.
  Fan HC, Gu W, Wang J, et al. Nature. 2012 Jul 4.
  • Stanford team develops fetal genome sequencing method, Genome Web, July 5 [by free subscription only]

Public Health Sciences

• Limitations of the Human Reference Genome for Personalized Genomics
  Rosenfeld J, Mason C, Smith T. 2012 PLoS ONE 7(7): e40294

• Genome study highlights risk factor for multiple sclerosis, Nature News, July 9

• Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
  Emond MJ, Louie T, Emerson J, et al. Nat Genet. 2012 Jul 8.
  • Exome sequencing of health condition extremes can reveal susceptibility genes, Science Daily, July 8
• Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
  arcOGEN Consortium and arcOGEN Collaborators. Lancet. 2012 Jul 2.
  • New genetic culprits found in world-leading study of osteoarthritis, Wellcome Trust Sanger Institute, July 3

Funding

• Biomarkers for Early Detection of Hematopoietic Malignancies (R21)

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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