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, October 25, 2012       Volume 29   Number 17

Spotlight

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
• CDC article: Multilevel interventions and the challenge of implementing genomic medicine
• CDC Blog: What do pyramids and onions have to do with implementing genomic medicine

Human Genome Sequencing

• Confused about this gene sequencing business? Explainer video from Time Magazine

• Will my son develop cancer? Exploring the promise & pitfalls of genome sequencing, Time, October 22

• Test Your DNA For Diseases — No Doctor Required, Time, October 23
• What your doctor is not telling you about your DNA: The problem of incidental findings, Time October 25
• Whole Genome Sequencing: the problem of incidental findings and how to deal with it-CDC Blog
• Review: Exome sequencing & complex disease: practical aspects of rare variant association studies
• Review: How to infer causality and functional significance of human DNA variants?

Public Health Surveillance and Registries

• Implementation of validated genomic applications can benefit from public health surveillance & registries
• Michigan state cancer surveillance program: only 42% of women diagnosed with breast cancer <age 50 years receive genetic counseling

• An example of a population registry for genetic diseases is the Cystic Fibrosis Foundation nationwide patient registry

• CDC Data Collection/Harmonization-Registry/Surveillance for Hemoglobinopathies.

• An example of public health registry for rare disease is the ATSDR National Amyotrophic Lateral Sclerosis  Registry

• CDC Blog: The importance of measurement-what gets measured gets done

• CDC Tracking Network to learn how the environment might be affecting children’s health

Epidemiology in the 21st Century

• Models for large cohort studies to identify genetic & environmental factors in common diseases: Is there a better way?
• October 25 NCI Cohort Consortium Symposium: When Bigger is Better- Combining and Designing Cohorts for Power

• NCI epidemiology matters blog-join the conversation on the future of epidemiology
• NCI Meeting on Trends in 21st Century Epidemiology, December 12-13, 2012
• Genetic Factors in Human Diseases-The HuGENavigator now has more than 75,000 curated articles. Check it out

Public Health Careers and Education

• Working in Public Health: Twitter Chat with CDC Director Friday October 26
• CDC Detectives Respond to Disease Outbreaks
• CDC Genomic Competencies for Public Health Practice

• Undergraduate public health education expands nationwide: Classes, programs expand for students

Colorectal Cancer, Family History and Genetics

• NCI online tool to estimate your risk for developing colorectal cancer, includes family history & other information

• JAMA Editorial: Finding the Needle in the Haystack: Lynch Syndrome among patients with  colorectal
• JAMA paper: Should patients with colorectal cancer be screened for Lynch Syndrome?

• CDC information: Colorectal cancer awareness, family history and genetic testing
• CDC podcast: Genetic testing for Lynch syndrome in colorectal cancer

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Topics of the Week

Cancer

• Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival
  Xiaoyun Liao, Paul Lochhead, Reiko Nishihara, et al. N Engl J Med 2012; 367:1596-1606

• Clinical applications of gene-based risk prediction for lung cancer and the central role of chronic obstructive pulmonary disease
  Young RP, et al. Front Genet 2012;3:210

• Family History of Cancer and Its Association With Breast Cancer Risk Perception and Repeat Mammography
  Haber G, et al. Am J Public Health 2012 Oct

• Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation  carriers
  Schackmann EA, et al. Fam Cancer 2012 Oct

Family History

• Effect of family history of type-2 diabetes on coronary flow reserve and it's relationship with insulin resistance: an observational study
  Caliskan M, et al. Anadolu Kardiyol Derg 2012 Oct

Genomics in Practice

• Evaluating genomic tests from bench to bedside: a practical framework
  Jennifer S Lin, Matthew Thompson, Katrina AB Goddard, et al. BMC Medical Informatics and Decision Making 2012, 12:117

• Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective
  Darr A, et al. J Community Genet 2012 Oct

• Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing
  Vieira TP, et al. J Community Genet 2012 Oct

Newborn Screening

• Translational genetics: Whole-genome sequencing diagnostics for newborns
  Louisa Flintoft Nature Reviews Genetics 13, 758 (November 2012)

• Thirty-years of screening for cystic fibrosis in East Anglia
  Calvin J, et al. Arch Dis Child 2012 Oct

Pharmacogenomics

• Combinatorial Pharmacogenetic Interactions of Bucindolol and β(1), α(2C) Adrenergic Receptor Polymorphisms.
  O'Connor CM, Fiuzat M, Carson PE, et al. PLoS One. 2012;7(10):e44324

  • "Genetic Scorecard" predicts which patients with heart failure respond best to beta-blocker drug, Medical News Today, October 18

Public Health Sciences

• Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
  Carvalho B, et al. Exp Clin Endocrinol Diabetes 2012 Oct;120(9):535-9

• PESNPdb: A comprehensive database of SNPs studied in association with pre-eclampsia
  Tuteja G, et al. Placenta 2012 Oct

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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