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: firstname.lastname@example.org.
Thursday, May 19, 2011 Volume 26 Number 20
Newborn Screening as one of ten great public health achievements
Newborn screening is featured in this week's MMWR as one of the 10 great public health achievements in the United States in the past decade.
- New publication, Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk, published in PloS Currents Evidence on Genomics Tests. Authors: Nguyen CM, Mendes M, Ma JD.
- New commentary, Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time, published May 2011 in Genetics in Medicine. Authors: Berg JS, Khoury MJ, Evans JP.
- In the Genomics and Health Impact blog, we will offer comments from a public health perspective on genomic research and programs conducted by CDC and other institutions around the world. We will not provide individual medical advice or endorse specific commercial products. We encourage respectful comments and dialogue.
- Multiple State Genetics Programs have collected population-based genomic data using state surveillance systems which have been posted by the Oregon Public Health Division.
- A report “Generating Evidence for Genomic Diagnostic Test Development – Workshop Summary” based on the November 2010 workshop from the Institute of Medicine’s Roundtable on Translating Genomic-Based Research for Health has been released.
- The second issue of the GAPPNet Quarterly Newsletter has been posted on the GAPPNet website.
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
Goldman JS, et al. Genet Med 2011 May
New diagnostic guidelines and DTC testing for Alzheimer’s disease, Genomics Law Report, May 12
Confirmation of Family Cancer History Reported in a Population-Based Survey
Mai PL, et al. J Natl Cancer Inst 2011 May
Patient Reports of Relatives’ Cancer History Often Not Accurate
JNCI J Natl Cancer Inst (2011)
Most patients don't know family's cancer history, CBC News, May 12
Providing Genetic Risk Information to Parents of Newborns with Sickle Cell Trait: Role of the General Practitioner in Neonatal Screening
Vansenne F, et al. Genet Test Mol Biomarkers 2011 May
Chrysler D, McGee H, Bach J, et al. J Law Med Ethics. 2011 Mar;39 Suppl 1:98-101.
Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases
Piana C, et al. J Clin Pharmacol 2011 May
Law-Medicine Interfacing: Patenting of Human Genes and Mutations
Fialho AM & Chakrabarty AM Recent Pat DNA Gene Seq 2011 May
FDA warns more DTC genetics firms, Genome Web, May 17 [by free subscription only]
AMP releases statement on diagnostics in drug labels, EurekAlert, May 16
Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome
Dewanwala A, et al. Fam Cancer 2011 May
CRP Polymorphisms and Chronic Kidney Disease in the Third National Health and Nutrition Examination Survey
Hung AM, et al. BMC Med Genet 2011 May;12(1):65
Systematic Review and Meta-Analysis of the Association Between Complement Component 3 and Age-related Macular Degeneration: A HuGE Review and Meta-Analysis
Thakkinstian A, et al. Am J Epidemiol 2011 May
Telomere length and early severe social deprivation: linking early adversity and cellular aging.
Drury SS, Theall K, Gleason MM, et al. Mol Psychiatry. 2011 May 17.
Deprivation and neglect found to age children's chromosomes, Medical News Today, May 18
Projecting Individualized Absolute Invasive Breast Cancer Risk in Asian and Pacific Islander American Women.
Matsuno RK, Costantino JP, Ziegler RG, et al. J Natl Cancer Inst. 2011 May 11.
Breast cancer risk calculator updated for Asian-Americans, NIH News, May 16
The S1103Y Cardiac Sodium Channel Variant Is Associated With Implantable Cardioverter-Defibrillator Events in Blacks With Heart Failure and Reduced Ejection Fraction.
Sun AY, Koontz JI, Shah SH, et al. Circ Cardiovasc Genet. 2011 Apr 1;4(2):163-8
Gene variant linked to sudden cardiac death risk in blacks, Bio-Medicine, May 13
MicroRNA signatures in tissues and plasma predict development and prognosis of computed tomography detected lung cancer.
Boeri M, Verri C, Conte D, et al. Proc Natl Acad Sci U S A. 2011 Mar 1;108(9):3713-8.
MiRNA profiling could lead to a blood test for lung cancer, Medical News Today, May 13
Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication.
Breitling LP, Yang R, Korn B, et al. Am J Hum Genet. 2011 Apr 8;88(4):450-7.
Genetic alteration may represent early stage of smoking-induced cardiovascular damage, Science Daily, May 12
CDC authors are indicated in bold
Comparative evaluation of automated and manual commercial DNA extraction methods for detection of Francisella tularensis DNA from suspensions and spiked swabs by real-time polymerase chain reaction
Dauphin LA, Walker RE, Petersen JM, Bowen MD. Diagn Microbiol Infect Dis. 2011 May 3.
CXCL4 and CXCL10 predict risk of fatal cerebral malaria
Wilson NO, Jain V, Roberts CE, Lucchi N, Joel PK, Singh MP, Nagpal AC, Dash AP, Udhayakumar V, Singh N, Stiles JK. Dis Markers. 2011 Jan;30(1):39-49.
Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time
Berg JS, Khoury MJ, Evans JP. Genet Med. 2011 May 9.
Evaluation of a broadly protective Chlamydia-cholera combination vaccine candidate
Eko FO, Okenu DN, Singh UP, He Q, Black C, Igietseme JU. Vaccine. 2011 May 12;29(21):3802-10.
Functional analysis of the Borrelia burgdorferi bba64 gene product in murine infection via tick infestation
Patton TG, Dietrich G, Dolan MC, Piesman J, Carroll JA, Gilmore Jr RD. PLoS One. 2011 ;6(5):e19536.
Genome-wide copy number alterations in subtypes of invasive breast cancers in young white and African American women
Loo LW, Wang Y, Flynn EM, Lund MJ, Bowles EJ, Buist DS, Liff JM, Flagg EW, Coates RJ, Eley JW, Hsu L, Porter PL. Breast Cancer Res Treat. 2011 May;127(1):297-308.
Livestock genes could protect against one of Africa's oldest animal plagues, Seed Daily, May 18
High economic impact of Human Genome Project, PHG Foundation, May 12
Research to Reality, National Cancer Institute
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