Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update offers links to genomics news and publications relevant to population health and health care. 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, March 1, 2012 Volume 28 Number 9
New Blog Post: Can Sudden Cardiac Death of the Young be Prevented?
- NIH's GTR: Genetic Testing Registry provides a central location for voluntary submission of genetic test information by providers.
- Confused by genetic tests? NIH’s new online tool may help, NIH News, February 29
- New NIH database brings clarity to genetic tests, Science Insider, February 29
- Medicare and Medicaid Programs; Electronic Health Record Incentive Program-- Stage 2[PDF 1.09 MB]
- Meaningful Use Stage 2 Notice of Proposed Rule-Making includes provisions to incentivize collection of structured family health history information as of 2014
- USPSTF posts Draft Research Plan on BRCA Mutation Risk Assessment and Testing for public comment
- Blog Post: Emerging Evidence for the Benefits of Systematic Collection of Family History in Primary Care
Gene-Z: a device for point of care genetic testing using a smartphone.
Stedtfeld RD, Tourlousse DM, Seyrig G, et al. Lab Chip. 2012 Feb 29.
Fecal DNA Testing in Screening for Colorectal Cancer in Average Risk Adults
Final Report, AHRQ, February 29
Targeted Medications- New Focus on Companion Tests- Validity vs. Utility
Reinke T. Managed Care Feb 2012;35-38
Blood test detects Down Syndrome during pregnancy, WBAY, February 23
BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.
Robertson L, Hanson H, Seal S, et al. Br J Cancer. 2012 Feb 14.
Calls for expanded BRCA1 genetic testing of women, PHG Foundation, February 23
Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch Syndrome among US cancer programs and follow-up of abnormal results
Beamer LC et al. J Clin Oncol 2012 Feb
Screening Patients With Colorectal Cancer for Lynch Syndrome: What Are We Waiting For?
Kastrinos F & Syngal S J Clin Oncol 2012 Feb
Screening for Lynch Syndrome varies among hospitals, Medscape, February 23 [by free subscription only]
Genetic testing for cancer saving lives, Today’s THV, February 27
What to ask before undergoing genetic testing, Detroit Free Press, February 26
Advancing personalized medicine: tailoring drugs to fit a patient's genetic predisposition, Science Daily, February 24
Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance.
Simon C, Shinkunas LA, Brandt D, et al. J Med Ethics. 2012 Feb 23.
ACLU challenges patents on breast cancer genes: BRCA, ACLU, February 22
Genomics, Intellectual Disability, and Autism
Mefford HC, Batshaw ML, Hoffman EP. N Engl J Med. 2012 Feb 23;366(8):733-43.
Realizing genomic medicine
Phimister EG, et al. N Engl J Med 2012 Feb;366(8):757-9
FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma.
Ma YP, van Leeuwen FE, Cooke R, et al. Blood. 2012 Jan 26;119(4):1029-31.
Breast cancer after radiation for Hodgkin's: Is it genetic? Medscape, February 24 [by free subscription only]
Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks.
Newman A, Gallo N, Hancox L, et al. Genome Medicine, 2012; 4 (2): 16
The genetic basis for age-related macular degeneration (AMD), Science Daily, February 24
Breast cancer-associated abraxas mutation disrupts nuclear localization and DNA damage response functions.
Solyom S, Aressy B, Pylkäs K, et al. Sci Transl Med. 2012 Feb 22;4(122):122ra23.
Researchers discover new member of the breast-cancer gene network, Medical News Today, February 23
CDC authors are indicated in bold
Dengue viremia in blood donors identified by RNA and detection of dengue transfusion transmission during the 2007 dengue outbreak in Puerto Rico
Stramer SL, Linnen JM, Carrick JM, Foster GA, Krysztof DE, Zou S, Dodd RY, Tirado-Marrero LM, Hunsperger E, Santiago GA, Munoz-Jordan JL, Tomashek KM. Transfusion. 2012 Feb 17.
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Mechtler TP, Stary S, Metz TF, De Jesus VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC. Lancet. 2012 Jan 28;379(9813):335-41.
Performance of commercial reverse line blot assays for HPV genotyping
Steinau M, Onyekwuluje JM, Scarbrough MZ, Unger ER, Dillner J, Zhou T. J Clin Microbiol. 2012 Feb 22.
Trends in population-based studies of human genetics in infectious diseases
Rowell JL, Dowling NF, Yu W, Yesupriya A, Zhang L, Gwinn M. PLoS One. 2012 ;7(2):e25431.
NIH spotlights research for rare eye diseases during Rare Disease Day, NIH News, February 28
Online toolkit for genetic research expands focus on substance abuse and addiction, Newswise, February 28
Popping the genetics bubble, CMAJ News, February 28
Separating hype from reality in the era of the affordable genome, CMAJ News, February 27
'Am I my genes?': Fate, family and genetic testing, NPR, February 27
Genomics as a final frontier, or just a way station, The New York Times, February 27
Genetic test reveals unexpected data, NPR, February 24
NHLBI to fund genomic studies of lung disease genes and variants, Genome Web, February 24 [by free subscription only]
International Conference on Emerging Infectious Diseases
March 11-14 ~ Atlanta, GA
The Conference of the Global Sickle Cell Disease Network
March 15 ~ Atlanta, GA
2012 ACMG Annual Clinical Genetics Meeting
March 27-31 ~ Charlotte, NC
Infectious Disease Genomics and Global Health
May 7-11 ~ Suzhou, China
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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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