Genomics & Health Impact Update
The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice. We highlight news and information on the use of genomic tests and other applications, including family health history, in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send your comments to: genetics@cdc.gov.
Thursday, April 28, 2011 Volume 26 Number 17
Spotlight
Report on Genetics Education and Training
The Secretary‘s Advisory Committee on Genetics, Health, and Society (SACGHS) has released its report on Genetics Education and Training [PDF 2.55 MB] which was developed in recognition of the importance of professional and public genetics education and training to assure that genomic research findings benefit the public‘s health. SACGHS used literature reviews, surveys and key informant interviews to identify the education and training needs of point-of-care health care professionals, public health providers, and consumers and patients and provides recommendations to address these needs.
Announcement
CDC-authored genomics publications
Starting this week, we will highlight CDC-authored scientific publications involving human and pathogen genomics.
Topics
Genomic Tests
Committee opinion no. 488: pharmacogenetics
Obstet Gynecol 2011 May;117(5):1240-1
Molecular diagnostics for pharmacogenomic testing of fluoropyrimidine based-therapy: costs, methods and applications
Di Francia R, et al. Clin Chem Lab Med 2011 Apr
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base.
Family Health History
Development and pilot testing of an online screening decision aid for men with a family history of prostate cancer
Wakefield CE, et al. Patient Educ Couns 2011 Apr;83(1):64-72
Understanding Patterns of Health Communication in Families at Risk for Hereditary Nonpolyposis Colorectal Cancer: Examining the Effect of Conclusive Versus Indeterminate Genetic Test Results
Ersig AL, et al. Health Commun 2011 Apr:1-8
Practice and Programs
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system
Bernstein IT, et al. Hum Mutat 2011 May;32(5):551-6
ThalInd, a beta-Thalassemia and hemoglobinopathies database for India: defining a model country-specific and disease-centric bioinformatics resource
Sinha S, et al. Hum Mutat 2011 Apr
Delivering genomic cancer data for clinical decisions, PHG Foundation, April 27
Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.
Link DC, et al. JAMA. 2011 Apr 20;305(15):1568-76.
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.
Welch JS, et al. JAMA. 2011 Apr 20;305(15):1577-84.
Whole-genome sequencing: a step closer to personalized medicine.
Pasche B, Absher D. JAMA. 2011 Apr 20;305(15):1596-7.
Whole genome sequencing reveals family cancer risk, PHG Foundation, April 26
Adding Alzheimer's risk option, 23andMe revives questions on utility of DTC Genomics, Genome Web, April 20 [by free subscription only]
Policy and Legislation
FDA tells Celera KIF6 test unapprovable without changes, Genome Web, April 21
US approves Swiss firm's cervical cancer test, Google, April 21
Data and Statistics
Economic impact of a genetic test for cisplatin-induced ototoxicity.
Dionne F, et al. Pharmacogenomics J. 2011 Apr 19.
Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium
Kho AN, et al. Sci Transl Med 2011 Apr;3(79):79re1
Evaluation of predictive models for the identification in daily practice of patients with lynch syndrome
Tresallet C, et al. Int J Cancer 2011 Apr
Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls
Lamy A, et al. Mod Pathol 2011 Apr
MRE11 Deficiency Increases Sensitivity to Poly(ADP-ribose) Polymerase Inhibition in Microsatellite Unstable Colorectal Cancers.
Vilar E, et al. Cancer Res. 2011 Apr 1;71(7):2632-2642.
New class of cancer drugs could work in colon cancers with genetic mutation, Medical News Today, April 26
Genomic Health announces launch of NCI RxPONDER Trial utilizing Oncotype DX® in women with node-positive breast cancer, PR Newswire, April 26
For this week's human genome epidemiology articles, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in boldAn efficient method for generating poxvirus recombinants in the absence of selection
Rice AD, Gray SA, Li Y, Damon I, Moyer RW. Viruses. 2011 Mar 1;3(3):217-232.
Genetic evidence for Rift Valley fever outbreaks in Madagascar resulting from virus introductions from the East African mainland rather than enzootic maintenance
Carroll SA, Reynes JM, Khristova ML, Andriamandimby SF, Rollin PE, Nichol ST. J Virol. 2011 Apr 20.
MTHFR 677C->T genotype is associated with folate and homocysteine concentrations in a large, population-based, double-blind trial of folic acid supplementation
Crider KS, Zhu JH, Hao L, Yang QH, Yang TP, Gindler J, Maneval DR, Quinlivan EP, Li Z, Bailey LB, Berry RJ. Am J Clin Nutr. 2011 Apr 20.
Newborn bloodspot screening for lysosomal storage disorders
Zhou H, Fernhoff P, Vogt RF. J Pediatr. 2011 Apr 12.
View previous CDC-Authored Publications
Let's Go Surfing
Cancer research, treatment move toward individualized care, HemOnc today, April 25
The dark matter of disease, The Scientist, April 25
Your genes in an envelope? More, please, The Wall Street Journal, April 23
Meet an Innovator: Muin J. Khoury, Genetic Alliance
Events and Training
17th Annual APHMG Workshop and Medical Genetics Residency Program Directors Meeting
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