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 1, 2012       Volume 29   Number 18

Spotlight

1000 Genomes Project

 

 

 

• Nature: special Issue October 28, 2012
• An integrated map of genetic variation from 1,092 human genomes-The 1000 Genomes Project Consortium, Nature, November 1
• A map of human genome variation from population-scale sequencing
• NIH News: The 1000 Genomes Project more than doubles catalog of human genetic variation
• 1000 genomes study is ‘guidebook’ to how genes vary, Wellcome Trust, November 1

Implementation of Genomic Medicine and Public Health Practice

• New CDC page on genomic implementation  
• New CDC Video: Cascade genetic screening and public health practice: An idea whose time has come.
• New CDC Blog: New strategies in public health genomics beyond newborn screening: Working meeting and action plan to save lives now

Genomics at the American Public Health Association 2012 Meeting

• The future of genomics in public health—APHA 2012
• The public health response to personalized medicine-APHA 2012
• Promoting Healthy People 2020 genomics objectives in Connecticut-APHA 2012
• Access to genomic services across the lifespan APHA12 session
• How can genomics be integrated into public health practice?  A day in the invisible life of public health genomics? CDC Blog
• Robert Wood Johnson Foundation: A dialogue about the future of health and healthcare
  

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)

Human and Pathogen Genomics: Bioinformatics

• Public health genomics work involves both human and pathogen genomics. See a list of CDC 2012 publications in genomics

• Bioinformatics 101: from the National Human Genome Research Institute
• Genomics and advanced technologies information: from the National Institute of Allergy and Infectious Diseases
• Bioinformatics for human genetics: promises and challenges. Human Mutation review 2011 
• Pathogen comparative genomics in the next-generation sequencing era. Functional Genomics Review 2011
• Encyclopedia of DNA Elements (ENCODE) at UCSC
• CaPSID: A bioinformatics platform for computational pathogen sequence identification in human genomes and transcriptomes
• PATRIC: the comprehensive bacterial bioinformatics resource with a focus on human pathogenic species.
• GEM: Genome mapper- a new tool for fast, accurate and versatile analysis of sequence data

Whole Genome Sequencing

• Special Review Issue: Genomic Medicine Human Molecular Genetics 2012
• Why cheaper genetic testing could cost us a fortune , Time, October 26
• How can we use genetic testing to save lives and save unnecessary healthcare costs? CDC Blog
• Whole Genome Sequencing: the problem of incidental findings and how to deal with it-CDC Blog
• I don’t want to know my genome sequence because the state of the science provides both too much and too little information - PLoS Blog

Genomics, Patient-Centered Outcomes Research and Comparative Effectiveness Research

• How can genomic and precision medicine benefit from patient-centered outcomes research? Check out PCORI definition
• Comparative effectiveness research and genomic medicine: an evolving relationship for 21st century medicine: CDC paper
• Comparative effectiveness research: Building the evidence base for decision making in  genomic medicine NCI paper
• Health economics of personalized health care and prevention [PDF 309.91] NIH July 2012 Consultation Summary Report 

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Publications of the Week

Cancer

• A role for common genomic variants in the assessment of familial breast cancer.
  Sawyer S, Mitchell G, McKinley J, et al. J Clin Oncol. 2012 Oct 29

• Evaluating breast cancer risk with genome-wide association studies: is this approach patient ready?
  Litton JK & Gonzalez-Angulo AM J Clin Oncol 2012 Oct

Family History

• Family history of schizophrenia as a risk factor for axis I psychiatric conditions
  Devylder JE & Lukens EP J Psychiatr Res 2012 Oct

Funding

• NHGRI to fund genomics courses for biomedical community, Genome Web, October 29 [by free subscription only]

Genomics in Practice

• Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market
  Harris A, et al. J Genet Couns 2012 Oct

• Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age
  Costain G, et al. Schizophr Bull 2012 Oct

• Genomic medicine: challenges and opportunities for physicians
  Burton H, et al. Clin Med 2012 Oct;12(5):416-9

• Why do people choose not to have screening for hemochromatosis?
  Wolthuizen M, et al. Genet Test Mol Biomarkers 2012 Oct

Guidelines and Recommendations

• Guidelines for the management of familial hypercholesterolemia
  Harada-Shiba M, et al. J Atheroscler Thromb 2012 Oct

Newborn Screening

• Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?
  Bailey DB Jr, et al. Genet Med 2012 Oct

• Effects of immediate telephone follow-up with providers on sweat chloride test timing after cystic fibrosis newborn screening identifies a single mutation
  La Pean A, et al. J Pediatr 2012 Oct

• Establishment of the first newborn screening program in the People's Democratic Republic of Laos
  Hoehn T, et al. J Trop Pediatr 2012 Oct

Policy

• The next controversy in genetic testing: clinical data as trade secrets? [PDF 166.67]
  Robert Cook-Deegan, et al. Eur J Human Genetics

Public Health Sciences

• Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
  Nature November 1, 2012
  

• Impact of genetic risk assessment on nutrition-related lifestyle behaviours
  Vernarelli JA Proc Nutr Soc 2012 Oct:1-7

• Revisiting global gene expression analysis
  Jakob Lovén, David A. Orlando, Alla A. Sigova, et al. 2012 Cell Oct 26

  • Major flaw identified in standard approach to global gene expression analysis, Medical News Today, October 29

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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