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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, June 2, 2011 Volume 26 Number 22
Spotlight
New Blog Post
What is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics
Announcements
- New articles of interest in the June 2011 issue and supplement of Journal of Clinical Lipidology
For additional information on familial hypercholesterolemia:
- Cascade Screening for Familial Hypercholesterolemia (FH), published in PLoS Currents- Evidence on Genomic Tests, May 23, 2011 Authors: Renée M. Ned, Eric. J.G. Sijbrands
- CDC Podcast on Familial Hypercholesterolemia
- New publication, Screening for sudden cardiac death in the young: report from a National Heart, Lung, and Blood Institute working group, published in Circulation, 2011 May 3;123(17):1911-8. Authors: Kaltman JR, Thompson PD, Lantos J, Berul CI, Botkin J, Cohen JT, Cook NR, Corrado D, Drezner J, Frick KD, Goldman S, Hlatky M, Kannankeril PJ, Leslie L, Priori S, Saul JP, Shapiro-Mendoza CK, Siscovick D, Vetter VL, Boineau R, Burns KM, Friedman RA.
- New publication, Understanding the role of human variation in vaccine adverse events: the Clinical Immunization Safety Assessment Network, published in Pediatrics. 2011 May;127 Suppl 1:S65-73. Authors: LaRussa PS, Edwards KM, Dekker CL, Klein NP, Halsey NA, Marchant C, Baxter R, Engler RJ, Kissner J, Slade BA.
- Skin Cancer Awareness
Skin cancer is the most common form of cancer in the United States. Most skin cancers are caused by exposure to ultraviolet rays from the sun. People who have a close relative (parent, sibling, or child) with a specific type of skin cancer called melanoma may be at greater risk of developing the disease than the general population. Read more
Topics
Genomic Tests
Clinical utility gene card for: Dyskeratosis congenita
Dokal I, et al. Eur J Hum Genet 2011 May
New guidelines on genetic testing for heritable arrhythmias, Internal Medicine News, May 31
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base.
Family Health History
Hereditary Breast and Ovarian Cancer
Alfons Meindl, Nina Ditsch, Karin Kast, et al. Dtsch Arztebl Int 2011;108(19):323–30
Does it run in the family? Toolkit will soon be available at federal health centers nationwide, Genetic Alliance, June 2
Take time to create family health history, it could save a life, Press & Guide, May 27
Practice and Programs
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Goldberg AC, et al. J Clin Lipidol 2011 May-Jun;5(3):133-40.
Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Hopkins PN, et al. J Clin Lipidol 2011 Jun;5(3 Suppl):S9-17
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Goldberg AC, et al. J Clin Lipidol 2011 Jun;5(3 Suppl):S1-8
Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Ito MK, et al. J Clin Lipidol 2011 Jun;5(3 Suppl):S38-45
Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Daniels SR, et al. J Clin Lipidol 2011 Jun;5(3 Suppl):S30-7
Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Robinson JG & Goldberg AC. J Clin Lipidol 2011 Jun;5(3 Suppl):S18-29
Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors
Sheets KB, et al. J Genet Couns 2011 May
Policy and Legislation
Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Goldberg AC, et al. J Clin Lipidol 2011 Jun;5(3 Suppl):S46-51
Genetic information and discrimination: a policy analysis
Snyder C Clin J Oncol Nurs 2011 Jun;15(3):330-2
FDA continues crackdown on DTC genetics companies, PHG Foundation, May 26
Data and Statistics
Availability of pharmacogenetic and pharmacogenomic information in anticancer drug monographs in France: personalized cancer therapy
Albertini L, et al. Pharmacogenomics 2011 May;12(5):681-91
Comparison of Effect Sizes Associated With Biomarkers Reported in Highly Cited Individual Articles and in Subsequent Meta-analyses
John P. A. Ioannidis, MD, DSc; Orestis A. Panagiotou, MD. JAMA. 2011;305(21):2200-2210
Links between biomarkers or genes to diseases exaggerated too often, experts say, Medical News Today, June 1
Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project.
Skinner D, Choudhury S, Sideris J, et al. Pediatrics. 2011 May 29.
Should babies be screened for untreatable diseases, Reuters, June 1
The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and bedside
Luciano JS, et al. J Biomed Semantics 2011;2 Suppl 2:S1
Direct-to-consumer genetic tests neither accurate in their predictions nor beneficial to individuals, Science Daily, May 31
Gene change identifies brain cancer patients that respond better to treatment, EurekAlert, May 31
New advances in lipid genetics lead to better detection and prevention of major diseases, Medical News Today, May 31
Novel method to compare risk prediction models, PHG Foundation, May 31
Quality standards in risk prediction, PHG Foundation full report
Study finds clinical worries over DTC tests in Europe, Genome Web, May 31 [by free subscription only]
The human sex odds at birth after the atmospheric atomic bomb tests, after Chernobyl, and in the vicinity of nuclear facilities.
Scherb H, Voigt K. Environ Sci Pollut Res Int. 2011 Jun;18(5):697-707.
New study challenges belief that exposure to nuclear radiation has no or negligible genetic effects in humans, Medical News Today, May 27
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
Wright FA, Strug LJ, Doshi VK, et al. Nat Genet. 2011 Jun;43(6):539-46.
Identification of genes that may influence severity of cystic fibrosis, PHG Foundation, May 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 bold
Screening for sudden cardiac death in the young: report from a National Heart, Lung, and Blood Institute working group
Kaltman JR, Thompson PD, Lantos J, Berul CI, Botkin J, Cohen JT, Cook NR, Corrado D, Drezner J, Frick KD, Goldman S, Hlatky M, Kannankeril PJ, Leslie L, Priori S, Saul JP, Shapiro-Mendoza CK, Siscovick D, Vetter VL, Boineau R, Burns KM, Friedman RA.
Circulation. 2011 May 3;123(17):1911-8.
Understanding the role of human variation in vaccine adverse events: the Clinical Immunization Safety Assessment Network
LaRussa PS, Edwards KM, Dekker CL, Klein NP, Halsey NA, Marchant C, Baxter R, Engler RJ, Kissner J, Slade BA.
Pediatrics. 2011 May;127 Suppl 1:S65-73.
Feasibility, diagnostic accuracy, and effectiveness of decentralised use of the Xpert MTB/RIF test for diagnosis of tuberculosis and multidrug resistance: a multicentre implementation study
Boehme CC, Nicol MP, Nabeta P, Michael JS, Gotuzzo E, Tahirli R, Gler MT, Blakemore R, Worodria W, Gray C, Huang L, Caceres T, Mehdiyev R, Raymond L, Whitelaw A, Sagadevan K, Alexander H, Albert H, Cobelens F, Cox H, Alland D, Perkins MD.
Lancet. 2011 Apr 30;377(9776):1495-505.
Meningococcal disease: shifting epidemiology and genetic mechanisms that may contribute to serogroup C virulence
MacNeil JR, Thomas JD, Cohn AC.
Curr Infect Dis Rep. 2011 May 21.
The molecular epidemiology of hepatitis E virus infection
Purdy MA, Khudyakov YE.
Virus Res. 2011 May 11.
Blood gene expression profiling detects silica exposure and toxicity
Sellamuthu R, Umbright C, Roberts JR, Chapman R, Young SH, Richardson D, Leonard H, McKinney W, Chen B, Frazer D, Li S, Kashon M, Joseph P.
Toxicol Sci. 2011 May 19.
View previous CDC-authored publications
Let's Go Surfing
New evidence favors the folate hypothesis for autism, Medscape, May 31 [by free subscription only]
Scientists find genetic basis for key parasite function in malaria, NIH News, May 26
Events and Training
Policy Workshop on Whole Genome Sequencing
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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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