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, November 8, 2012       Volume 29   Number 19

Spotlight

November is National Diabetes Month

 

 

• Presidential Proclamation -- National Diabetes Month, 2012
• National Diabetes Education Program: If you have diabetes, 5 questions to ask healthcare team: Question #3 Are my children at risk?
• CDC Information: Family Health History
• CDC information: Check Your Risk for Developing Type 2 Diabetes
• For National Diabetes Month, NIH urges actions to reach health goals
• Sharp rise in diabetic eye disease makes American Diabetes Month ever more important, NIH, November 6

Evidence-based Genomic and Family History Applications in Practice

• Tier 1 evidence-based genomic applications that are ready for implementation in clinical practice include: HLA testing for abacavir hypersensitivity, HER2 testing in breast cancer, EGFR testing in non-small lung cancer, among others. For additional information click here
• Tier 1 evidence-based applications for family history use in clinical practice include: hereditary hemochromatosis, osteoporosis, heart disease, breast cancer among others. For additional information click here
• Read CDC blogs on evidence-based classification of genomic tests and family history:
  • Genomic tests and population health: An online catalog to promote a conversation on evolving evidence (May, 2012)
  • Evidence matters in genomic medicine- Round 2: Integrating cancer genomic tests, (August, 2012)
  • Evidence matters in genomic medicine—Round 3: Integrating family health history into clinical preventive services (September, 2012)

Whole Genome Sequencing

• Beyond the Genome and into the Clinic, Genome Medicine Oct 30
  • Bioinformatics for the masses (masses of data and masses of users)
  • Beyond Mendel: Other uses of the genome to improve public health
• PloS Blog: I don’t want to know my genome sequence because the science provides both too much & too little information
• My DNA Results Spur Alzheimer’s Anxiety
• A contest to sequence three kids’ genomes, Time, November 6
• BMJ Blog: Empowering patients and clinicians through social media  
• Can genomic information be next? Implications of internet availability of genomic i9nformation for public health practice, CDC paper 
• "Phonomics"--the convergence of genomics and the smartphone just getting going
• Whole Genome Sequencing: the problem of incidental findings and how to deal with it, CDC Blog
• Will we ever… reveal all the secrets of life from DNA? BBC Blog, Nov 2

Autism

• Epidemiology: Complex disorder- Researchers are digging into the myriad causes of autism to refine its definition and find elusive biological signatures, Nature, Nov 1.
• Genetic tests for autism debut amid concerns about validity, SFARI, Nov 1.
• CDC information: Autism and family history
• CDC information: New Data on Autism Spectrum Disorders

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Publications of the Week

Cancer

• Tackling the complexity of genes and environments in cancer, NCI Cancer Bulletin, October 30

• Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
  Thompson BA, Greenblatt MS, Vallee MP, et al. Hum Mutat. 2012 Sep 4.

  • A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the colon cancer family registry.
    Thompson BA, Goldgar DE, Paterson C, et al. Hum Mutat. 2012 Sep 4
  • Genetic test results for Lynch syndrome improved with new computer program, EurekAlert, November 1
• Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial.
  Robertson KA, Nalepa G, Yang FC, et al. Lancet Oncol. 2012 Oct 22.
  • Indiana University researchers report first effective treatment of tumors arising from common genetic disease NF1, Medical News Today, November 3

Cardiovascular Disease

• Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary?
  Richard P, et al. Br J Sports Med 2012 Nov;46 Suppl 1:i59-i68

Gene Therapy

• Early responses to adenoviral-mediated transfer of the aquaporin-1 cDNA for radiation-induced salivary hypofunction
  Bruce J. Baum, Ilias Alevizos, Changyu Zheng, et al. 2012 PNAS, Nov 5

  • First gene therapy study in human salivary gland shows promise, NIH News, November 5
• Gene therapy arrives in Europe, The Scientist, November 6
  • Gene therapy drug gets official European approval, PHG Foundation, November 5

Genomics in Practice

• Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs?
  Earle N, et al. Heart Rhythm 2012 Oct

• On averages and peaks: how do people integrate attitudes about multiple diseases to reach a decision about multiplex genetic testing?
  Shiloh S, et al. Med Decis Making 2012 Nov

• Patterns of cancer genetic testing: A randomized survey of Oregon clinicians
  Summer L. Cox, Amy I. Zlot, Kerry Silvey, et al. Journal of Cancer Epidemiology Vol 2012 (2012

Genomic Testing

• To tell or not to tell- what to do about p.C282Y heterozygotes identified by HFE screening
  Delatycki M, et al. Clin Genet 2012 Nov

• The Next Controversy in Genetic Testing: Clinical Data as Trade Secrets? [PDF 166.96 KB]
  Cook-Deegan R, Conley J, Evans J, et al.  2012  European Journal of Human Genetics

  • Policy experts say Myriad's proprietary variant database sets bad precedent for personalized medicine, Genome Web, November 1 [by free subscription only]
• Ethics panel urges cautious approach to DNA testing, The Copenhagen Post, November 1

Newborn Screening

• Applying genomic analysis to newborn screening
  Solomon BD, et al. Mol Syndromol 2012 Aug;3(2):59-67

• Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening
  Mechtler TP, et al. J Chromatogr B Analyt Technol Biomed Life Sci 2012 Nov;908:9-17

Public Health Sciences

• Evaluation and cost analysis of national health policy of thalassaemia screening in west-azerbaijan province of Iran
  Ahmadnezhad E, et al. Int J Prev Med 2012 Oct;3(10):687-92

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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