 For information on genomic applications in cancer care and prevention, please visit the CancerGEM Knowledge Base |
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.
Wednesday, March 28, 2012 Volume 28 Number 13
Highlights of the Week:
Spotlight
New Blog Post: Evidence Matters in Genomic Medicine
- Consensus Report: Evolution of Translational Omics: Lessons Learned and the Path Forward, Institute of Medicine
- Lapses in oversight compromise omics results, Nature News, March 23
- IOM issues guidelines for development of 'Omics-based Tests`, Genome Web, March 23 [by free subscription only]
- Genome-Based Diagnostics: Clarifying Pathways to Clinical Use- Workshop Report, Institute of Medicine
- Evaluation of Genomic Applications in Practice and Prevention (EGAPP)
- Blog post: The public health approach to genetic testing in the 21st century: saving lives and saving unnecessary healthcare costs
- Improving Validation Practices in “Omics” research by Ioannidis JP and Khoury MJ
- Two new members of the EGAPP Working Group, with experience and expertise in pharmacogenomics and public health, will be selected in 2012. Nominate yourself or someone you know today!
Announcements
- March 27th was Diabetes Awareness Day
- The Association of State and Territorial Health Officials (ASTHO) posted five state case studies highlighting the role of genomics in public health
- Request for comments on issues of privacy and access with regard to human genome sequence data, Presidential Commission for the Study of Bioethical Issues, March 27
- DNA mapped in a day prompts U.S. review of genome ethics, Bloomberg Businessweek, March 26
- Blog Post: Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network
- Hereditary Breast Cancer: Practical Pursuit for Clinical Translation
Lynch HT, et al. Ann Surg Oncol 2012 Mar - 33 State Governors declare March 22 Lynch Syndrome Awareness Day
- Hereditary Breast Cancer: Practical Pursuit for Clinical Translation
- NCHPEG & AMA Release New Educational Tools on Colorectal Cancer
- Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database.
Lill CM, et al. PLoS Genet. 2012 Mar;8(3):e1002548.
Genomic Pulse
- Including family health history with traditional risk factors could identify more than 600,000 undiagnosed diabetics in the United States. To find out more, click here
Picks of the Week
- U.S. Supreme Court bounces BRCA gene patent case
- Justices send back gene case, The New York Times, March 26
- Supreme Court bounces Myriad BRCA gene patent case back to appeals court for review, Genome Web. March 26 [by free subscription only]
- Should genomic test results be returned to participants in research involving biobanks?
- Managing incidental findings and research results in genomic research involving biobanks and archived data sets.
Wolf SM, Crock BN, Van Ness B, et al. Genet Med. 2012 Mar 21. - Biobanks should inform participants of incidental findings, PHG Foundation, March 26
- Managing incidental findings and research results in genomic research involving biobanks and archived data sets.
- Genetic insight into severe influenza: why some people get hospitalized
- IFITM3 restricts the morbidity and mortality associated with influenza.
Everitt AR, Clare S, Pertel T, et al. Nature. 2012 Mar 25. - Genetic insight to some cases of severe flu, PHG Foundation, March 26
- IFITM3 restricts the morbidity and mortality associated with influenza.
- Water-testing genetic tool kit can detect dozens of dangerous pathogens
- B.C. scientists engineer water-testing tool kit that IDs bacteria by genetics, The Vancouver Sun, March 22
Topics
Genomic Tests
Patients who know their gene test results are more likely to regularly take and remain on statins, study at ACC shows, Market Watch, March 26
Some breast cancer patients spared chemotherapy by new genomic test, Medical News Today, March 23
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.
Family Health History
A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk
Vogel TJ, et al. Gynecol Oncol 2012 Mar
Increased risk of lung cancer in individuals with a family history of the disease: A pooled analysis from the International Lung Cancer Consortium
Cote ML, et al. Eur J Cancer 2012 Mar
Women with a family history of breast cancer but no genetic predisposition, Medical News Today, March 22
Practice and Programs
Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer
Zilliacus E, et al. Support Care Cancer 2012 Mar
The Level of Importance and Level of Confidence that Midwives in the United States Attach to Using Genetics in Practice
Crane MJ, et al. J Midwifery Womens Health 2012 Mar;57(2):114-9
Public support for neonatal screening for Pompe disease, a broad-phenotype condition.
Weinreich SS, Rigter T, van El CG, et al. Orphanet J Rare Dis. 2012 Mar 14;7(1):15.
Policy and Legislation
Pharmacogenomics and personalized medicine: wicked problems, ragged edges and ethical precipices
Fleck LM N Biotechnol 2012 Mar
Public Health Science
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
Stahl E, Wegmann D, Trynka G, et al. Nature Genetics 2012 Mar 25
A hidden architecture: Researchers use novel methods to uncover gene mutations for common diseases, EurekAlert, March 25
Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight
Ishida M, Monk D, Duncan A, et al. The American Journal of Human Genetics, 22 March 2012
'Granny gene' can affect babies' birthweight, PHG Foundation, March 26
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.
Santoro N, Zhang CK, Zhao H, et al. Hepatology. 2012 Mar;55(3):781-9.
Unraveling the genetics of fatty liver in obese children: Additive effect of P446L GCKR and I148M PNPLA3 polymorphisms.
Valenti L, Alisi A, Nobili V. Hepatology. 2012 Mar;55(3):661-3.
Study identifies genetic variants linked to fatty liver disease in obese children, EurekAlert, March 23
170 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
The 3' untranslated regions of influenza genomic sequences are 5'PPP-independent ligands for RIG-I
Davis WG, Bowzard JB, Sharma SD, Wiens ME, Ranjan P, Gangappa S, Stuchlik O, Pohl J, Donis RO, Katz JM, Cameron CE, Fujita T, Sambhara S. PLoS One. 2012 ;7(3):e32661.
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database.
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, Destefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe, The Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium; The International Parkinson's Disease Genomics Consortium (IPDGC); The Parkinson's Disease GWAS Consortium; The Wellcome Trust Case Control Consortium 2 (WTCCC2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. PLoS Genet. 2012 Mar;8(3):e1002548.
First reports of human rotavirus G8P[4] gastroenteritis in the United States
Weinberg GA, Payne DC, Teel EN, Mijatovic-Rustempasic S, Bowen MD, Wikswo M, Gentsch JR, Parashar UD. J Clin Microbiol. 2012 Mar;50(3):1118-21.
Genetic backgrounds of the Plasmodium falciparum chloroquine resistant transporter (pfcrt) alleles in Pakistan
Rawasia WF, Sridaran S, Patel JC, Abdallah J, Ghanchi NK, Barnwell JW, Escalante AA, Udhayakumar V, Beg MA.
Infect Genet Evol. 2012 Mar;12(2):278-81.
Genomic analysis of emm59 group A Streptococcus invasive strains, United States [PDF 221.09 KB]
Fittipaldi N, Olsen RJ, Beres SB, Van Beneden C, Musser JM.
Emerg Infect Dis. 2012 ;18(4):650-652.
Mutational analysis of the West Nile virus NS4B protein
Wicker JA, Whiteman MC, Beasley DW, Davis CT, McGee CE, Lee JC, Higgs S, Kinney RM, Huang CY, Barrett AD. Virology. 2012 Apr 25;426(1):22-33.
A new single-step PCR assay for the detection of the zoonotic malaria parasite Plasmodium knowlesi
Lucchi NW, Poorak M, Oberstaller J, Debarry J, Srinivasamoorthy G, Goldman I, Xayavong M, da Silva AJ, Peterson DS, Barnwell JW, Kissinger J, Udhayakumar V. PLoS One. 2012 ;7(2):e31848.
View previous CDC-authored publications
Let's Go Surfing
Direct-to-Consumer Genetic Testing: Introduction to the Special Issue
Myers MF & Bernhardt BA J Genet Couns 2012 Mar
Phylo: a citizen science approach for improving multiple sequence alignment
Kawrykow A, Roumanis G, Kam A, et al. PLoS One. 2012;7(3):e31362.
Gamers line up to solve gemonics challenge, PHG Foundation, March 27
Predisposed to risk but not change, CMAJ, March 26
EMERGE Network launches publicly available database of phenotype identification algorithms, Genome Web, March 23 [by free subscription only]
Genomic data on chronic lung disease made readily available on new website, Medical Xpress, March 22
Events and Training
Genomic Medicine Program Advisory Committee
April 17 ~ Arlington, VA
Molecular Epidemiology of Chronic Diseases
April 23-27 ~ Maastricht, Netherlands
25th Course in Medical Genetics
May 20-25 ~ Bologna, Italy
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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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