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, February 14, 2013       Volume 30   Number 7

Spotlight

February is Heart Disease Month-Happy Valentine's Day

• CDC feature: This Valentine’s Day, love your heart
• CDC feature: February is American Heart Month-heart disease is preventable and controllable
• CDC feature: Heart disease and family history
  You cannot change your family history of heart disease but you can do a lot to reduce your risk of getting heart disease
• CDC information: How we can use genomics and family history to reduce the burden of heart disease: an evidence-based approach
• CDC podcast: Cascade screening for familial hypercholesterolemia
• CDC blog: A million hearts, a thousand genes and your family history

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Features of the Week

The Human Genome Epidemiology Network (HuGENet)

• What is HuGENet? For more than a decade, HuGENet has advanced a population perspective on human genetic variation in health and disease through data synthesis, interpretation, and dissemination 
• HuGE Navigator: A searchable, online knowledge base in human genome epidemiology, updated weekly from PubMed
• Published HuGENet recommendations for enhancing the reporting, synthesis, and translation of human genome epidemiology research
• HuGENet Self-guided online case studies for teaching concepts in human genome epidemiology
• HuGENet Published guidelines, methods, analyses, and commentaries in human genome epidemiology

Congenital Heart Defects Awareness Week

• February 7-14 marks Congenital Heart Defects Awareness Week. About 1 out of every 100 babies born in the US has a congenital heart defect
• CDC feature: Screening for heart defects: A mother’s story
• CDC information: Facts about congenital heart defects including genetic factors
• Did you know that 295 genes have been reported in relation to the risk of congenital heart defects including 4 genomewide association studies. To find out more, check out the HuGE Navigator
  

Evidence on Genomic Tests

• PLOS Currents: Evidence on Genomic Tests:  Genomic tests are increasingly available but information on their validity and utility is often fragmented and difficult to access. This online collection aims to provide summaries of available data and to highlight important gaps in knowledge
• Use of the gene expression classifier for preoperative identification of benign thyroid nodules with indeterminate fine needle aspiration cytopathology.
  Ali SZ et al. PLoS Currents: Evidence on Genomic Tests  Feb 11
• Genomic Applications in Practice and Prevention Knowledge Base: online resource providing access to information on applications of genomic research for use in public health and health care. Since September 2009, the knowledge base has information on 519 genomic and other molecular tests
  

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Diseases of the Week

Hypertrophic Cardiomyopathy

• From the American Heart Association: Hypertrophic cardiomyopathy (HCM) is very common and can affect people of any age. About one out of every 500 people has HCM. It affects men and women equally. HCM is a common cause of sudden cardiac death in young people, including young athletes.
• What is hypertrophic cardiomyopathy? Information from the National Heart, Lung and Blood Institute
• Guidelines for the diagnosis and treatment of hypertropic cardiomyopathy. From the American College of Cardiology/American Heart Association
• Hypertrophic cardiomyopathy kills 7 in one family, ABC News story, Feb 7
• CDC blog: Can sudden cardiac death of the young be prevented?
• Did you know that 85 genes have been reported with hypertrophic cardiomyopathy? For more information, check out the HuGENavigator
  

Cystic Fibrosis

• Cystic Fibrosis Foundation: There are 30,000 children and adults affected with cystic fibrosis in the United States and 70,000 worldwide
• CDC facts about cystic fibrosis [PDF 298.67 KB]
• Did you know that all 50 states conduct newborn screening for cystic fibrosis?
• Cystic fibrosis is of 31 core disorders recommended for newborn screening by The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children
• Newborn screening: Info for new parents (Cystic Fibrosis Foundation)
• Was your baby diagnosed with cystic fibrosis? Watch videos on CF infant care (Cystic Fibrosis Foundation)

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Select Events

• Genetic Alliance monthly webinar series: What about privacy and progress
  in whole genome sequencing?
• IOM Cancer Forum: Implementing a national cancer clinical trials system for the 21st century. [PDF 197.25 KB] Feb 11-12 agenda

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Reports and Publications

Cancer

• A new genome-driven integrated classification of breast cancer and its implications
  Dawson S et al. The EMBO Journal 8 Feb 2013

• A prospective evaluation of a breast cancer prognosis signature in the observational RASTER study
  C.A. Drukker, J.M. Bueno-de-Mesquita, V.P. Retèl, et al. International Journal of Cancer 2013
  • Confirmed: MammaPrint predicts treatment in breast cancer, Medscape, Feb 8 [by free subscription only]

• Dealing with the unexpected: Consumer responses to direct-access BRCA mutation testing
  Uta Francke, Cheri Dijamco, Amy K. Kiefer, et al. Peer Journal 2013 Feb 12

  • Consumers have few negative reactions to the results of genetic testing for cancer mutations, EurekAlert, Feb 12
• Evaluating use characteristics for the Oncotype Dx 21-gene recurrence score and concordance with chemotherapy use in early-stage breast Cancer
  Chen C et al. J Oncol Practice February 2013
• Increasing Lynch syndrome identification through establishment of a hereditary colorectal cancer registry.
  Sturgeon D et al,   Dis Colon Rectum. 2013 Mar;56(3):308-14
• miRCancer: a microRNA–cancer association database constructed by text mining on literature
  Boya Xie, et al. Bioinformatics Feb 2013

• Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors
  Glanz KL, et al. Cancer Epidemiol Biomarkers Prev 2013 Feb

• Risk of asynchronous contralateral breast cancer in noncarriers of BRCA1 and BRCA2 mutations with a family history of breast cancer: A report from the women's environmental cancer and radiation epidemiology study
  Reiner AS et al. J Clin Oncol Feb 1

• Vemurafenib for treating locally advanced or metastatic BRAF V600 mutation-positive malignant melanoma
  National Institute of Health and Clinical Excellence Technology appraisals, TA269, 2012 Dec

  • NICE guidance on vemurafenib for treating locally advanced or metastatic BRAF V600 mutation-positive malignant melanoma 
    Perampaladas K, et al. Lancet Oncol 2013 Jan;14(1):20-1
    

Ethics

• Disclosure of incidental findings from next-generation sequencing in pediatric genomic research
  Abdul-Karim R, et al. Pediatrics 2013 Feb

• Do researchers have an obligation to actively look for genetic incidental findings?
  Gliwa C & Berkman BE Am J Bioeth 2013 Feb;13(2):32-42

• Arrivederci, GINA by Alex Philippidis, Center for Genetics and Society February 4th, 2013
• The first rule of genomic identifiability. Price-Ball M, Feb 8. Personal Genome Project Blog

Genomics in Practice

• Characteristics of genomic test consumers who spontaneously share results with their health care provider
  Darst BF, et al. Health Commun 2013 Feb

• Screening for diabetes and prediabetes should be cost-saving in patients at high risk.
  Chatterjee R et al. Diabetes Care Feb 2013

• Physicians' preparedness for integration of genomic and pharmacogenetic testing into practice within a major healthcare system
  Selkirk CG, et al. Genet Test Mol Biomarkers 2013 Feb

• The challenge of juvenile Huntington disease: To test or not to test
  Koutsis G, et al. Neurology 2013 Feb

Public Health Sciences

• Getting ready for the human phenome project: The 2012 Forum of the Human Variome Project
  Oetting WS, et al. Hum Mutat 2013 Feb

• HDAM: a resource of human disease associated mutations from next generation sequencing studies
  Jia M, et al. BMC Med Genomics 2013;6 Suppl 1:S16

• MRSA transmission on a neonatal intensive care unit: Epidemiological and genome-based phylogenetic analyses
  Ulrich Nübel et al. PloS One 2013 Jan 31

• Whole genome sequencing versus traditional genotyping for investigation of a mycobacterium tuberculosis outbreak: A longitudinal molecular epidemiological study
  Andreas Roetzer et al. PLoS Medicine Feb 2013

Reviews and Commentaries on Science & Technology

• Waiting for the human intestinal eukaryotome.
  Lee O'Brien Andersen LO et al The ISME Journal , 14 Feb 2013

• Visualizing multidimensional cancer genomics data
  Schroeder MP et al. Genome Med Feb 2013 
• Visualizing genetic variation Discover Blog Post Khan R  February 12
• Reuse of public genome-wide gene expression data.
  Rung J, Brazma A. Nat Rev Genet. 2013 Feb;14(2):89-99.
• Genes that may confer resistance to nearly all antibiotic classes found in chinese agricultural waste
  Kuehn B, JAMA News Feb 11
• The human gut microbiome and body metabolism: Implications for obesity and diabetes
  Sridevi Devaraj et al. Clin Chem Feb 11
• Could the future of dieting be based on your genetics? Ducharme J, Feb 11 post
• Stanford geneticist talks tracking biological data points and personalized medicine (video). Steakley L. February 12th
• How genomics is changing clinical outcomes: Q&A with Heidi Rehm. New York Genome Center Blog Post, Feb 12
• Sequencing a complete human genome may soon cost less than an iPhone? MIT Technology Review Feb 11
• The other microbiome–exploring the human virome. Harris D, Feb 8, PNAS First Look Blog
• What is personalized medicine? Global Genes Project Guest Blog Feb 8

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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