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, December 20, 2012       Volume 29   Number 25

Spotlight

Genomics Implementation

 

 

• New report and recommendations from the September 7, 2012 CDC workshop: New strategies in public health genomics actions to save lives now [PDF 951.80 KB], University of Michigan Center for Community and Public Health Genomics. APHA Genomics Forum
• CDC video: Cascade genetic screening and public health practice: an idea whose time has come
• CDC genomics implementation: What public health can do now to save lives
• CDC blog: From genetic counseling in individuals and families to cascade screening in populations: An emerging role for public health practice

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Features of the Week

Michigan Department of Community Health Cancer Genomics Program

• Michigan State Public Health Genomics Program:  Vision is Improved health outcomes and enhanced quality of life for the people of Michigan through appropriate use of genetic information, technology and services 
• Michigan Department of Community Health has created a comprehensive cancer genomics program, including public health surveillance, health education & policy interventions
• BRCA ½ public health surveillance in Michigan 2008-2012 report [PDF 772.97 KB]
• Gene expression profiling (GEP) for breast cancer recurrence risk prediction, Public Health Surveillance in Michigan, 2008-2012 [PDF 577.26 KB]

Family Health History and the Holidays

• CDC Feature: Twelve health and safety tips for the holidays
• CDC Blog: Family health history and the holidays
• CDC Feature: Gather and share your family health history
• Could knowing your family health history save your life? Dec 7 blog
• Watch this video for twelve tips on how to stay safe and healthy during the holiday.

• MillionHeartsUS: Find out your 10-year risk of heart attack, especially if you have a family history, and what you can do about it!

Personal Genomics

• We're overselling the health-care 'revolution' of personal genomics – Tim Caulfield Dec 14 Blog

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Diseases of the Week

Duchenne Muscular Dystrophy

• CDC information: What should you know about muscular dystrophies?
• Duchenne muscular dystrophy: A genetic intervention stands a skip away from clinical tests J.S. Chamberlain- Science  Dec 14

Diabetes

• CDC feature: Managing diabetes during the holidays
• 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

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Select Events

Trends in 21st Century Epidemiology National Cancer Institute Dec 12-13

• Workshop: From scientific discoveries to population health impact
• Video cast: day 1
• Video cast day 2 
• Twitter feed from the meeting summarizing online dialogue
• The emergence of translational epidemiology. Khoury MJ et al. Am J Epidemiol 
• Cancer epidemiology matters blog

 

IOM Meeting of the Roundtable on Translating Genomics for Health December 3:

• Improving the efficiency and effectiveness of genomic science translation. Presentations available online

 

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Reports and Publications

Cancer

• Cancer family history triage: a key step in the decision to offer screening and genetic testing
  Brennan P, et al. Fam Cancer 2012 Dec

• Opportunities and challenges for selected emerging technologies in cancer epidemiology: mitochondrial, epigenomic, metabolomic, and telomerase profiling
  Verma M, et al. Cancer Epidemiol Biomarkers Prev 2012 Dec

• Prophylactic salpingectomy and delayed oophorectomy as an alternative for BRCA mutation carriers
  Kwon JS, et al. Obstet Gynecol 2012 Dec

• Identification of Lynch syndrome among patients with colorectal cancer
  Moreira L, Balaguer F, Lindor N, et al. JAMA. 2012 Oct 17;308(15):1555-65

  • Finding Lynch Syndrome among patients with colorectal cancer: Routine tumor testing looks best, The ASCO Post, December 15
• Progress in cancer genomic medicine: A year in review, 2012, Medscape, December 14 [by free subscription only]

Family History

• Family history as a risk factor for recurrent hospitalization for lone atrial fibrillation: a nationwide family study in Sweden
  Zoller B, et al. BMC Cardiovasc Disord 2012 Dec;12(1):121

• Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption
  Widmer C, et al. J Genet Couns 2012 Dec

• Should your family history of coronary heart disease scare you?
  Prabhakaran D & Jeemon P Mt Sinai J Med 2012 Nov;79(6):721-32

Funding Opportunity

• Health services research demonstration and dissemination grants, Agency for Healthcare Research Quality
• Patient-centered outcomes research institute funding announcements
  • Patient-centered outcomes research institute funding for first 25 comparative effectiveness research projects includes one project on genetic information

Genomics in Practice

• "It's about having the choice: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome"
  Archibald AD, et al. Am J Med Genet A 2012 Dec

• Consensus guidelines on the testing and clinical management issues associated with HLA and non-HLA antibodies in transplantation
  Tait BD, et al. Transplantation 2012 Dec

• Effective communication of molecular genetic test results to primary care providers
  Scheuner MT, et al. Genet Med 2012 Dec

• Ethical Issues in presymptomatic genetic testing for minors: A dilemma in Li-Fraumeni syndrome
  Fresneau B, et al. J Genet Couns 2012 Dec

  Evaluating genetic counseling for individuals with schizophrenia in the molecular age
  Costain G, et al. Schizophr Bull 2012 Dec

• Family communication following BRCA1/2 genetic testing: A close look at the process
  Lafreniere D, et al. J Genet Couns 2012 Dec

• The practice of adult genetics: A 7-year experience from a single center
  Eble TN, et al. Am J Med Genet A 2012 Dec

Genomic Testing

• Gene expression profiling for predicting outcomes in stage II colon cancer: systematic review and technology brief [PDF 437.77 KB]-AHRQ Effective Health Program, Dec 2012

• The EuroGentest Clinical Utility Gene Cards continued
  Anna Dierking, Jörg Schmidtke, Gert Matthijs and Jean-Jacques Cassiman European Journal of Human Genetics (2013) 21, 1

Guidelines and Recommendations

• Clinical pharmacogenetics implementation consortium guidelines for human leukocyte antigen-b genotype and allopurinol dosing 
  Hershfield MS, et al. Clin Pharmacol Ther 2012 Oct

New Reviews and Commentaries on Science & Technology

• Cancer pharmacogenomics: strategies and challenges
  Heather E. Wheeler. Nat Rev Genet Jan 2013

• Genetic causes of disease within reach of TALENs
  Haley Bridger, Broad Institute, December 17th
• Genomewide association studies and common disease — realizing clinical utility
  Lars Fugger, Gil McVean, and John I. Bell N Engl J Med 2012; 367:2370-2371Dec 20, 2012
• Multimodal dynamic profiling of healthy and diseased states for future personalized health care
  G I Mias and M Snyder. Clinical Pharmacology & Therapeutics (2013); 93 1, 29–32.
• Science news top 25: The year in science 2012, Science Dec 29
• Synthetic mRNA vaccine technique shows promise, PHG Foundation, Nov 27

Newborn Screening

• Association of State and Public Health Laboratories: Newborn Screening Technical assistance and Evaluation Program (NewSTEPs): New program to  provide quality improvement initiatives for newborn screening systems, a new innovative data repository, and technical and educational resources to state newborn screening programs and stakeholders

• Newborn screening and cascade testing for FMR1 mutations
  Sorensen PL, et al. Am J Med Genet A 2012 Dec

Pharmacogenomics

• Predicting the cost and pace of pharmacogenomic advances: An evidence-based study
  Arnaout R, et al. Clin Chem 2012 Dec

• Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain
  Agundez JA, et al. Front Genet 2012;3:273

Prenatal Testing

• NIH research matters: Genomic technology detects fetal problems. Dec 17

Public Health Sciences

• Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
  Potter BK, et al. Genet Med 2012 Dec

• Contribution of genome-wide association studies to scientific research: A bibliometric survey of the citation impacts of GWAS and candidate gene studies published during the same period and in the same journals
  Mansiaux Y & Carrat F PLoS One 2012;7(12):e51408

• DNA methylation as an adjunct to histopathology to detect prevalent, inconspicuous dysplasia and early-stage neoplasia in Barrett's esophagus
  Alvi MA, et al. Clin Cancer Res 2012 Dec

• The Toronto HCM genotype score for prediction of a positive genotype in hypertrophic cardiomyopathy
  Gruner C, et al. Circ Cardiovasc Genet 2012 Dec

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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