 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.
Thursday, April 19, 2012 Volume 28 Number 16
Highlights of the Week:
Spotlight
New Blog Post: Smokescreen... Never Let Genetics Blind You to the Harsh Reality of Cigarettes
Announcements
- April 20th is DNA Day
- The American Society of Human Genetics, the European Society of Human Genetics and states like North Carolina are featuring DNA Day
- Visit DNA Day on Facebook and Twitter
- World Hemophilia Day: One Family's Story, CDC Feature
- CDC Funding Announcement: Hemoglobinopathies Surveillance, Health Promotion, and Lab Capacity Demonstration Project
- New CDC Recommendations Good Laboratory Practices for Biochemical Genetic Testing and Newborn Screening for Inherited Metabolic Disorders
- April is Autism Awareness Month
- Why Are Autism Spectrum Disorders Increasing? CDC Feature
- New Data on Autism Spectrum Disorders, CDC Feature
- Autism: New Training for Health Professionals, CDC Feature
- Autism Spectrum Disorders: One Family's Story, CDC Feature
- Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD.
Constantino JN, Todorov A, Hilton C, et al. Mol Psychiatry. 2012 Feb 28. - Study of half siblings provides genetic clues to autism, Science Daily, April 17
Genomic Pulse
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About 1 in 1,000 people have an inherited bleeding disorder. However, 75% receive inadequate treatment, no treatment, or treatment does not work. Comprehensive treatment centers can improve health outcomes. Learn more
Picks of the Week
- Genetic testing in patients with obesity
- Genetic testing in patients with obesity
Phan-Hug F, et al. Best Pract Res Clin Endocrinol Metab 2012 Apr;26(2):133-43
- Genetic testing in patients with obesity
- Telemedicine in genetics services: a systematic review
- Telegenetics: a systematic review of telemedicine in genetics services
Hilgart JS, et al. Genet Med 2012 Apr
- Telegenetics: a systematic review of telemedicine in genetics services
- The downside of genetic screening
- The downside of genetic screening
Collier R CMAJ 2012 Apr
- The downside of genetic screening
- Breast cancer classification promises better therapies
- The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups
Curtis C, Shah S, Chin S, et al. Nature 2012 Apr 18 - Breast cancer classification promises better therapies, Los Angeles Times, April 19
- The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups
- Exome sequencing projects on intellectual disability and developmental delay in children
- Gene hunt is on for mental disability, Nature News, April 17
- Familial effects on ischemic stroke
- Familial Effects on Ischemic Stroke: The Role of Sibling Kinship, Sex and Age of Onset.
Kasiman K, Lundholm C, Sandin S, et al. Circ Cardiovasc Genet. 2012 Apr 10. - Your stroke risk considerably higher if a sibling has had a stroke, Medical News Today, April 12
- Familial Effects on Ischemic Stroke: The Role of Sibling Kinship, Sex and Age of Onset.
- Screen uncovers hidden ingredients of Chinese medicine
- Deep Sequencing of Plant and Animal DNA Contained within Traditional Chinese Medicines Reveals Legality Issues and Health Safety Concerns
Megan L. Coghlan, James Haile, Jayne Houston, et al. 2012 PLoS Genet 8(4): e1002657 - Screen uncovers hidden ingredients of Chinese medicine, Nature News, April 12
- Deep Sequencing of Plant and Animal DNA Contained within Traditional Chinese Medicines Reveals Legality Issues and Health Safety Concerns
Topics
Genomic Tests
A DNA Repair Pathway-Focused Score for Prediction of Outcomes in Ovarian Cancer Treated With Platinum-Based Chemotherapy
Kang J, et al. J Natl Cancer Inst 2012 Apr
Ovarian cancer - using genetics to predict chemotherapy response, Medical News Today, April 16
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 Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome
Kardashian A, et al. Hered Cancer Clin Pract 2012 Apr;10(1):4
How to compile your family medical history, USA Weekend, April 12
Young women with breast cancer genes face tough choices, CMAJ, April 12
Practice and Programs
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?
Ooi CY, et al. Thorax 2012 Apr
Effectiveness of a condensed protocol for disclosing APOE genotype and providing risk education for Alzheimer disease
Roberts JS, et al. Genet Med 2012 Apr
Genetics for clinicians: From candidate genes to whole genome scans (technological advances)
Bochud M Best Pract Res Clin Endocrinol Metab 2012 Apr;26(2):119-32
Policy and Legislation
An analysis of US fertility centre educational materials suggests that informed consent for preimplantation genetic diagnosis may be inadequate
Labonte ML J Med Ethics 2012 Apr
Public Health Science
A Genome-Wide Association Study Identifies UGT1A1 as a Regulator of Serum Cell-Free DNA in Young Adults: The Cardiovascular Risk in Young Finns Study
Jylhävä J, Lyytikäinen L, Kähönen M, et al. 2012 PLoS ONE 7(4): e35426
Research Guidelines in the Era of Large-scale Collaborations: An Analysis of Genome-wide Association Study Consortia
Austin MA, et al. Am J Epidemiol 2012 Apr
Commentary: The Seven Plagues of Epigenetic Epidemiology, Medscape, April 17
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K, Styrkarsdottir U, Evangelou E, et al. Nat Genet. 2012 Apr 15.
Certain genetic regions may be tied to osteoporosis, Medline Plus, April 15
Identification of common variants associated with human hippocampal and intracranial volumes.
Stein JL, Medland SE, Vasquez AA, et al. Nat Genet. 2012 Apr 15.
Crowd-sourcing expands power of brain research, The New York Times, April 15
Association between a Genome-Wide Association Study-Identified Locus and the Risk of Lung Cancer in Japanese Population
Ito H, McKay J, Hosono S, et al. Journal of Thoracic Oncology 2012 7(5):790-798
Latest research confirms genetic susceptibility to lung cancer, EurekAlert, April 15
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
Comparison of HIV-1 resistance profiles in plasma RNA versus PBMC DNA in heavily treated patients in Honduras, a resource-limited country
Diallo K, Murillo WE, de Rivera IL, Albert J, Zhou Z, Nkengasong J, Zhang G, Sabatier JF, Yang C. Int J Mol Epidemiol Genet. 2012 ;3(1):56-65.
Evaluation of a high-throughput diagnostic system for detection of HIV-1 in dried blood spot samples from infants in Mozambique
Jani IV, Sabatier J, Vubil A, Subbarao S, Bila D, de Sousa A, Mabunda N, Garcia A, Skaggs B, Ellenberger D, Ramos A. J Clin Microbiol. 2012 Apr;50(4):1458-60.
Existence of the Rdl mutant alleles among the Anopheles malaria vector in Indonesia
Asih PB, Syahrani L, Rozi IE, Pratama NR, Marantina SS, Arsyad DS, Mangunwardoyo W, Hawley W, Laihad F, Shinta S, Sukowati S, Lobo NF, Syafruddin D. Malar J. 2012 Feb 25;11(1):57.
F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
Gouw SC, van den Berg HM, Oldenburg J, Astermark J, de Groot PG, Margaglione M, Thompson AR, van Heerde W, Boekhorst J, Miller CH, le Cessie S, van der Bom JG. Blood. 2012 Mar 22;119(12):2922-34.
Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
Yang Q, Bailey L, Clarke R, Flanders WD, Liu T, Yesupriya A, Khoury MJ, Friedman JM. Am J Clin Nutr. 2012 Apr 4.
Severe outcomes are associated with genogroup 2 genotype 4 norovirus outbreaks: a systematic literature review
Desai R, Hembree CD, Handel A, Matthews JE, Dickey BW, McDonald S, Hall AJ, Parashar UD, Leon JS, Lopman B. Clin Infect Dis. 2012 Apr 4.
View previous CDC-authored publications
Let's Go Surfing
You Want to Do What? My Mother's Choice to Have Direct-to-Consumer Genetic Testing
Varga EA J Genet Couns 2012 Apr
Gene hunt is on for mental disability, Nature News, April 17
Lost on the gene map, The Walrus, April 17
Value of genomics and personalized medicine is wrongly downplayed, Medical Xpress, April 17
NHGRI to fund more ethics, legal, social research centers, Genome Web, April 16 [by free subscription only]
Events and Training
Evolution in the genome era
May 7-9 ~ Venice, Italy
Genetic Analysis of Complex Human Diseases
May 21-24 ~ Miami Beach, FL
Why We Can't Wait: Conference To Eliminate Health Disparities In Genomic Medicine
May 31 - June 1 ~ Miami, FL
Translating genomics into health: meeting the challenges, PHG Foundation
Making Science Work for Health: Translating Genomics
December 4 ~ Cambridge, UK
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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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