Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update offers links to genomics news and publications relevant to population health and health care. The Update highlights family health history and genomic tests, along with relevant data, policy, and legislation. Please send your comments to: firstname.lastname@example.org.
Thursday, February 16, 2012 Volume 28 Number 7
- Read the Blog Post "A Million Hearts, A Thousand Genes, and Your Family History"
- Heart disease and family history
- CDC podcast on familial hypercholesterolemia
- Cascade Screening for Familial Hypercholesterolemia (FH), PLoS Currents: Evidence on Genomics Tests
- EGAPP recommendation on genomic profiling in risk assessment for heart disease
- CDC Director Dr. Tom Frieden talks about Million Hearts and Family History on the Dr. Oz Show
- New Publication: Trends in Population-Based Studies of Human Genetics in Infectious Diseases
Rowell J, Dowling N, Yu W, Yesupriya A, Zhang L, Gwinn M, 2012 PLoS ONE 7(2): e25431
- New report: Building on our inheritance: Genomic technology in healthcare [PDF 824.29 KB], by the Human Genomics Strategy Group in the UK
- Also read: Genomic medicine and the NHS: it is possible Lancet 2012 Feb;379(9814):386
Breast cancer test makers will attempt to sway UK's NICE in wake of initial negative opinion, Genome Web, February 8 [by free subscription only]
A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis
Wapner R. American Journal of Obstetrics & Gynecology 2012; 206(1)S2
New prenatal genetic test is much more powerful at detecting fetal abnormalities, Science Daily, February 9
Machine Learning Amplifies the Effect of Parental Family History of Alzheimer's Disease on List Learning Strategy
Chang TS, et al. J Int Neuropsychol Soc 2012 Feb:1-12
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice
Brett GR, et al. Eur J Hum Genet 2012 Feb
Developing National Guidance on Genetic Testing for Breast Cancer Predisposition: The Role of Economic Evidence?
Sullivan W, et al. Genet Test Mol Biomarkers 2012 Feb
Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program
Watts KD, et al. J Genet Couns 2012 Feb
Impact of Web-Based Case Conferencing on Cancer Genetics Training Outcomes for Community-Based Clinicians
Blazer KR, et al. J Cancer Educ 2012 Feb
Long-Term Psychosocial Outcomes of BRCA1/BRCA2 Testing: Differences across Affected Status and Risk-Reducing Surgery Choice
Graves KD, et al. Cancer Epidemiol Biomarkers Prev 2012 Feb
Personalized medicine. New cystic fibrosis drug offers hope, at a price
Kaiser J Science 2012 Feb;335(6069):645
Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”
Sturm AC, Manickam K, J Genet Couns. 2012 Feb 1.
Ohio State genetics expert cautions about direct-to-consumer tests, Ohio State, February 9
Engaging children in genomics research: decoding the meaning of assent in research
Wilfond BS & Diekema DS Genet Med 2012 Feb
The Genetic Information Nondiscrimination Act (GINA): Public Policy and Medical Practice in the Age of Personalized Medicine
Feldman EA J Gen Intern Med 2012 Feb
The legal risks of returning results of genomics research
Clayton EW & McGuire AL Genet Med 2012 Feb
European pharmacogenetics guidance for drug development, PHG Foundation, February 15
A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes
Lee YC, et al. J Data Mining Genomics Proteomics 2011 Jan;2(1)
dbPTB: a database for preterm birth
Uzun A, et al. Database (Oxford) 2012;2012:bar069
Phenotypic information in genomic variant databases enhances clinical care and research: The ISCA consortium experience
Riggs ER, et al. Hum Mutat 2012 Feb
Large-Scale Gene-Centric Meta-Analysis across 39 studies Identifies Type 2 Diabetes Loci
Saxena et al. American Journal of Human Genetics, March 9, 2012
Type 2 diabetes genes identified in multiple ethnic groups, PHG Foundation, February 15
Largest-ever gene study of Type 2 diabetes finds variants across many ethnic groups, EurekAlert, February 9
Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study
Win AK, Young JP, Lindor NM, et al. J Clin Oncol. 2012 Feb 13.
First prospective analysis links breast and pancreatic cancer risk with Lynch syndrome, Medical News Today, February 15
CDC authors are indicated in bold
CFTR mutation analysis and haplotype associations in CF patients
Cordovado SK, Hendrix M, Greene CN, Mochal S, Earley MC, Farrell PM, Kharrazi M, Hannon WH, Mueller PW. Mol Genet Metab. 2012 Feb;105(2):249-54.
Evaluation of new biomarker genes for differentiating Haemophilus influenzae from Haemophilus haemolyticus
Theodore MJ, Anderson RD, Wang X, Katz LS, Vuong JT, Bell ME, Juni BA, Lowther SA, Lynfield R, Macneil JR, Mayer LW. J Clin Microbiol. 2012 Feb 1.
Recommendations for publication of viral genetic data and sample access for novel viruses and strains
Arrigo NC, Briese T, Calisher CH, Drebot MA, Hjelle B, Leduc JW, Powers AM, Repik PM, Roehrig JT, Schmaljohn CS, Tesh RB, Weaver SC. Am J Trop Med Hyg. 2012 Feb;86(2):189-191.
Biostatistics: Revealing analysis
Hayden E. Nature 482, 263-265 (09 February 2012)
Francis Collins: 3 Scientific Breakthroughs Changing Medicine, Medscape, February 15 [by free subscription only]
Darwin Day Celebrations, The Scientist, February 13
Genomics key to new $130M Alzheimer's Initiative, Genome Web, February 10 [by free subscription only]
How DNA finds its match, Medical News Today, February 10
Beyond the $1,000 genome, Forbes, February 9
The Future of Genomic Medicine V
March 1-2 ~ La Jolla, CA
Genetic Testing and Data Management Summit
March 12 ~ Washington, DC
Second Symposium on Translational Genomics
March 15-16 ~ Bethesda, MD
Why We Can't Wait: Conference To Eliminate Health Disparities In Genomic Medicine
May 31 - June 1 ~ Miami, FL
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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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