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: email@example.com.
Thursday, September 1, 2011 Volume 27 Number 9
- NIH Requests Public Comments on the Genetic Testing Registry (GTR)
- CDC Feature: Newborn Screening Can Help Prevent Problems
- Blog post: "Shall We Have Pie or Stew? Understanding Genetic and Environmental Causes of Human Disease"
- New funding opportunity, Ethical Legal and Social Implications (ELSI) of Genomic Research Regular Research Program
- CDC Public Health Grand Rounds session Newborn Screening: Improving Outcomes held on August 18th. Materials available on website
Clinical utility gene card for: Cystinuria
Eggermann T, et al. Eur J Hum Genet 2011 Aug
Clinical utility gene card for: Mucopolysaccharidosis type II
Beck M, et al. Eur J Hum Genet 2011 Aug
Clinical utility gene card for: multiple endocrine neoplasia type 2
Raue F, et al. Eur J Hum Genet 2011 Aug
Familiar transmission of coronary heart disease: A cohort study of 80,214 Swedish adoptees linked to their biological and adoptive parents.
Sundquist K, Winkleby M, Li X, et al. Am Heart J. 2011 Aug;162(2):317-23.
Genetics key factor in coronary heart disease, not lifestyle, Medical News Today, August 28
Canadian Expert Group consensus recommendations: KRAS testing in colorectal cancer
Aubin F, et al. Curr Oncol 2011 Aug;18(4):e180-4
Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric Cohort
Munck A, et al. J Pediatr Gastroenterol Nutr 2011 Sep;53(3):296-302
Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: A Vignette-Based Study.
Trivers KF, Baldwin LM, Miller JW, et al. Cancer. 2011 Jul 25
Genetic cancer test often urged for wrong women, Reuters, August 28
Inclusion of racial and ethnic minorities in genetic research: advance the spirit by changing the rules?
Knerr S, et al. J Law Med Ethics 2011 Sep;39(3):502-12
When Public Health and Genetic Privacy Collide: Positive and Normative Theories Explaining How ACA's Expansion of Corporate Wellness Programs Conflicts with GINA's Privacy Rules
Bard JS J Law Med Ethics 2011 Sep;39(3):469-87
FDA approves Pfizer drug to treat lung cancer in patients with genetic mutation, The Washington Post, August 26
Despite gene patent victory, Myriad Genetics faces challenges, The New York Times, August 25
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Perez-Carbonell L, et al. Gut 2011 Aug
Differences between women who pursued genetic testing for hereditary breast and ovarian cancer and their at-risk relatives who did not
Katapodi MC, et al. Oncol Nurs Forum 2011 Sep;38(5):572-81
Is there evidence of involvement of DNA repair polymorphisms in human cancer?
Ricceri F, et al. Mutat Res 2011 Aug
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case—control study
Owen A Ross, Alexandra I Soto-Ortolaza, Michael G Heckman, et al. Lancet Neurology 2011 Aug
Mayo Clinic finds genetic variation that protects against Parkinson's disease, Medical News Today, August 31
Temporal Dynamics of Host Molecular Responses Differentiate Symptomatic and Asymptomatic Influenza A Infection
Yongsheng Huang, Aimee K. Zaas, Arvind Rao, et al. PLoS Genetics 2011 Aug
Genes explain why you catch the flu, Ivanhoe, August 29
Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.
Miki D, Ochi H, Hayes CN, et al. Nat Genet. 2011 Jul 3;43(8):797-800.
Genetic variant linked to development of liver cancer in Hepatitis C virus carriers, Science Daily, August 29
Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer
Cybulski D, Wokołorczyk D, Jakubowska A, et al. J Clin Oncol. 2011 Aug 29.
New breast cancer gene may help predict risk, Reuters, August 29
Germline BAP1 mutations predispose to malignant mesothelioma.
Testa JR, Cheung M, Pei J, et al. Nat Genet. 2011 Aug 28.
NIH-funded researchers discover genetic link to mesothelioma, NIH News, August 26
Long-term persistence of a polyclonal T cell repertoire after gene therapy for x-linked severe combined immunodeficiency.
Gaspar HB, Cooray S, Gilmour KC, et al. Sci Transl Med. 2011 Aug 24;3(97):97ra79.
A ten-year check-up shows gene therapy patients are alive and well, Discover Magazine, August 25
CDC authors are indicated in bold
Common ancestry and novel genetic traits of Francisella novicida-like isolates from North America and Australia as revealed by comparative genomic analyses
Siddaramappa S, Challacombe JF, Petersen JM, Pillai S, Hogg G, Kuske CR. Appl Environ Microbiol. 2011 Aug;77(15):5110-22.
Cost-effectiveness analysis of diagnostic options for pneumocystis pneumonia (PCP)
Harris JR, Marston BJ, Sangrujee N, Duplessis D, Park B. PLoS One. 2011 ;6(8):e23158.
Demographic but not geographic insularity in HIV transmission among young black men who have sex with men, Mississippi, USA
Oster AM, Pieniazek D, Zhang X, Switzer WM, Ziebell RA, Mena LA, Wei X, Johnson KL, Singh SK, Thomas PE, Elmore KA, Heffelfinger JD. AIDS. 2011 Aug 23.
Detection of the first G6P human rotavirus strain from a child with diarrhea in Egypt
El Sherif M, Esona MD, Wang Y, Gentsch JR, Jiang B, Glass RI, Baker SA, Klena JD. Infect Genet Evol. 2011 Aug;11(6):1436-42.
Emergence of a new pathogenic Ehrlichia species, Wisconsin and Minnesota, 2009
Pritt BS, Sloan LM, Johnson DK, Munderloh UG, Paskewitz SM, McElroy KM, McFadden JD, Binnicker MJ, Neitzel DF, Liu G, Nicholson WL, Nelson CM, Franson JJ, Martin SA, Cunningham SA, Steward CR, Bogumill K, Bjorgaard ME, Davis JP, McQuiston JH, Warshauer DM, Wilhelm MP, Patel R, Trivedi VA, Eremeeva ME. N Engl J Med. 2011 Aug 4;365(5):422-9.
Genotypic distribution of hepatitis B Virus (HBV) among acute cases of HBV infection, selected US counties, 1999-2005
Teshale EH, Ramachandran S, Xia GL, Roberts H, Groeger J, Barry V, Hu DJ, Holmberg SD, Holtzman D, Ward JW, Teo CG, Khudyakov Y. Clin Infect Dis. 2011 Aug 22.
Mycobacterium shinjukuense sp. nov., a slowly growing, non-chromogenic species isolated from human clinical specimens
Saito H, Iwamoto T, Ohkusu K, Otsuka Y, Akiyama Y, Sato S, Taguchi O, Sueyasu Y, Kawabe Y, Fujimoto H, Ezaki T, Butler R. Int J Syst Evol Microbiol. 2011 Aug;61(Pt 8):1927-32.
Genetic Risk Prediction in Complex Disease
Jostins L & Barrett JC Hum Mol Genet 2011 Aug
The new generation of microbe hunters, The New York Times, August 29
Britain to launch personalized medicine project, Nature News, August 26
NIA plans to fund innovative genotype-phenotype studies of aging, Genome Web, August 26 [by free subscription only]
Sequencing kids' genomes to learn how cancer grows, Fast Company, August 26
9th Malaysia Genetic Congress
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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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