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
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
- Confused about this gene sequencing business? Explainer video from Time Magazine
- 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?
- 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
- An example of public health registry for rare disease is the ATSDR National Amyotrophic Lateral Sclerosis Registry
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
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
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
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
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
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
CDC authors are indicated in bold
Diversity and relationships of cocirculating modern human rotaviruses revealed using large-scale comparative genomics
McDonald SM, McKell AO, Rippinger CM, McAllen JK, Akopov A, Kirkness EF, Payne DC, Edwards KM, Chappell JD, Patton JT. J Virol. 2012 Sep;86(17):9148-62.
Comparison of Ahlstrom grade 226, Munktell TFN, and Whatman 903 filter papers for dried blood spot (DBS) specimen collection and subsequent HIV-1 viral load and drug-resistance genotyping analysis
Rottinghaus E, Bile E, Modukanele M, Maruping M, Mine M, Nkengasong J, Yang C. J Clin Microbiol. 2012 Oct 17.
Su JR, Pillay A, Hook EW, Ghanem KG, Wong W, Jackson D, Smith LD, Pierce E, Philip SS, Wilson S, Golden MR, Workowski KA, Chi KH, Parrish DD, Chen CY, Weinstock HS. Sex Transm Dis. 2012 October;39(10):794-798
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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