Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update offers links to genomics news and publications relevant to public health. The Update highlights family health history and genomic tests, along with relevant data, policy, and legislation. Please send your comments to: firstname.lastname@example.org.
Thursday, October 13, 2011 Volume 27 Number 15
New blog post "A Million Hearts, A Thousand Genes, and Your Family History"
- October is National Breast Cancer Awareness Month
- Hereditary Breast and Ovarian Cancer: BRCA and Your Patient, CDC Expert Commentary on Medscape
- CDC Awards Programmatic Funding to Support Breast Cancer Genomics
- Breast and Ovarian Cancer and Family History
- Quick Facts About Family Health History and Genetic Testing for Breast Cancer and Ovarian Cancer
- CDC Feature: Breast Cancer Awareness
- The EGAPP Working Group (EWG) will be adding at least 3 new members in 2011. Nominations for membership on the EWG are accepted on a continuous basis.
- Health and Human Services Secretary adopts new recommendation on newborn screening [PDF 211.61 KB]
- PCORI Funding Announcement: Pilot Projects Grants
This grant program will support development and enhancement of national research priorities for patient-centered outcomes research, preliminary data collection, and identification of methodologies that can be used to advance the field while identifying gaps in research. PCORI will award up to $13 million through this program in 2012.
The Patient-Centered Outcomes Research Institute — Promoting Better Information, Decisions, and Health
Washington A, Lipstein S; N Engl J Med. 2011 Oct 5
PCORI grants could encourage personalized medicine-focused CER, Genome Web, October 5
The family history: The first genetic test, and still useful after all those years?
Pyeritz RE Genet Med 2011 Oct
Canadian College of Medical Geneticists guidelines for the indications, analysis, and reporting of cancer specimens
Dawson AJ, et al. Curr Oncol 2011 Oct;18(5):e250-5
Genomics education program for physicians launches at El Camino Hospital, Genetic Alliance, October 10
2012 Baby's First Test Challenge Awards - request for proposals, Genetic Alliance, October 6
The Coming Explosion in Genetic Testing — Is There a Duty to Recontact?
Pyeritz R, N Engl J Med 2011; 365:1367-1369
NIH funds study of ethics of sharing DNA information with relatives, Genome Web, October 10 [by free subscription only]
Chromosomal microarray testing influences medical management.
Coulter ME, Miller DT, Harris DJ, et al. Genet Med. 2011 Sep;13(9):770-6.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, et al. Genet Med. 2011 Sep;13(9):777-84.
Advanced genetic test influences medical treatment, reports Genetics in Medicine, Medical News, October 12
A draft genome of Yersinia pestis from victims of the Black Death
Bos K, Schuenemann V, Golding G, et al. Nature 2011 Oct 12
Secrets of the Black Death, Nature Video, October 12
Researchers reconstruct genome of the Black Death; Bacteria found to be ancestor of all modern plagues, Science Daily, October 12
Association of BRCA1 and BRCA2 Mutations With Survival, Chemotherapy Sensitivity, and Gene Mutator Phenotype in Patients With Ovarian Cancer
Yang D, Khan S, Sun Y, et al. JAMA 2011;306:1557-1565, 1597-1598.
BRCA2 genetic mutation associated with improved survival and chemotherapy response in ovarian cancer, Medical News Today, October 12
The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study
Do R, Xie C, Zhang X, et al. PLoS medicine 2011 9(10): e1001106
Faulty heart disease gene modified by eating fruit and raw vegetables, Medical News Today, October 12
Role of Family History for Alzheimer Biomarker Abnormalities in the Adult Children Study
Xiong C, Roe C, Buckles V, et al. Arch Neurol. 2011 Oct;68(10):1313-9.
Family history may have more important role than previously thought in development of Alzheimer disease, Science Daily, October 10
A gene signature in histologically normal surgical margins is predictive of oral carcinoma recurrence
Reis R, Waldron L, Perez-Ordonez B, et al; BMC Cancer 2011, 11:437
Oral cancer recurrence predicted by gene signature, Medical News Today, October 11
The brain-derived neurotrophic factor gene in suicidal behaviour: a meta-analysis.
Zai CC, Manchia M, De Luca V, et al. Int J Neuropsychopharmacol. 2011 Aug 30:1-6.
Genetic link to suicidal behavior confirmed by CAMH study, Medical News Today, October 10
CDC authors are indicated in bold
Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States
Hertzberg VS, Hinton CF, Therrell BL, Shapira SK. J Pediatr. 2011 Oct;159(4):555-60.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
Luo Y, Hermetz KE, Jackson JM, Mulle JG, Dodd A, Tsuchiya KD, Ballif BC, Shaffer LG, Cody JD, Ledbetter DH, Martin CL, Rudd MK. Hum Mol Genet. 2011 Oct 1;20(19):3769-78.
Effect of D222G mutation in the hemagglutinin protein on receptor binding, pathogenesis and transmissibility of the 2009 pandemic H1N1 influenza virus
Belser JA, Jayaraman A, Raman R, Pappas C, Zeng H, Cox NJ, Katz JM, Sasisekharan R, Tumpey TM. PLoS One. 2011 ;6(9):e25091.
Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: A report from the National Down Syndrome Project Lora J. H. Bean, Emily G. Allen, Stuart W. Tinker, NaTasha D. Hollis, Adam E. Locke, Charlotte Druschel, Charlotte A. Hobbs, Leslie O'Leary, Paul A. Romitti, Marjorie H. Royle, Claudine P. Torfs, Kenneth J. Dooley, Sallie B. Freeman, Stephanie L. Sherman. Birth Defects Res A Clin Mol Teratol 2011 Oct;91(10):885-93
Qualitative assessment of study materials and communication strategies used in studies that include DNA collection
Jenkins MM, Reed-Gross E, Barfield WD, Prue CE, Gallagher ML, Rasmussen SA, Honein MA. Am J Med Genet A. 2011 Oct 4.
The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States
Adam BW, Hall EM, Sternberg M, Lim TH, Flores SR, O'Brien S, Simms D, Li LX, De Jesus VR, Hannon WH. Clin Biochem. 2011 Sep 21.
Using next generation sequencing to identify yellow fever virus in Uganda
McMullan LK, Frace M, Sammons SA, Shoemaker T, Balinandi S, Wamala JF, Lutwama JJ, Downing RG, Stroeher U, Macneil A, Nichol ST. Virology. 2011 Sep 30.
Genomics is not enough
Chakravarti A Science 2011 Oct 7;334(6052):15
The UCSC Genome Browser
Karolchik D, et al. Curr Protoc Hum Genet 2011 Oct;Chapter 18:Unit18.6
Nature readers flirt with personal genomics.
Maher B. Nature. 2011 Oct 5;478(7367):19.
Curiosity driving personal genetic testing among scientists, PHG Foundation, October 11
Human genetics: Genomes on prescription.
Maher B. Nature 2011 Oct 5;478(7367):22-4.
Clinical genome sequencing - a glimpse of the future? PHG Foundation, October 10
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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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