Genomics & Health Impact Update
Volume 31 Number 23 December 12-19, 2013About the Update
Contents of the week
- Genome Sequencing in the Clinic
- Heart Disease & Genomics: What's Next?
- Newborn Screening Outcome tracking
- Evidence-based Pharmacogenomics
- Health Disparities & Genomics
- More on Personal Genomic Tests
- Immunization Awareness
- Pathogen Genomics & Public Health
- Women's Health & Genomics
January 28-30 ~ Boston, MA
Cancer Susceptibility and Cancer Susceptibility Syndromes
January 29 - February 1 ~ San Diego, CA
RNA Silencing (A9)
January 31 - February 5 ~ Seattle, WA
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
Eggington JM, et al. Clin Genet 2013 Nov
Attitudes and knowledge of medical practitioners to hereditary cancer clinics and cancer genetic testing
Teng I & Spigelman A Fam Cancer 2013 Dec
Clinical utility of a biopsy-based cell cycle gene expression assay in localized prostate cancer
Shore N, et al. Curr Med Res Opin 2013 Dec
Cost-effectiveness of a genetic test for breast cancer risk
Folse HJ, et al. Cancer Prev Res (Phila) 2013 Dec;6(12):1328-36
Perceived risk following melanoma genetic testing: A 2-year prospective study distinguishing subjective estimates from recall
Aspinwall LG, et al. J Genet Couns 2013 Dec
Prospective study of the effect of the 21-gene assay on adjuvant clinical decision-making in Japanese women with estrogen receptor-positive, node-negative, and node-positive breast cancer
Yamauchi H, et al. Clin Breast Cancer 2013 Oct
Cancer gene deactivated in over 1% of tumours, PHG Foundation Dec 11
Time to think beyond KRAS in metastatic colorectal cancer, by Caroline Helwick, ACSO Post Dec 1 2013 Volume 4, Issue 19
Preferences for results delivery from exome sequencing/genome sequencing
Martha F. Wright . Genetics in Medicine, Dec 5
Different influence of family history on survival between colon and rectal cancer
Lee SD, et al. J Dig Dis 2013 Dec
Let’s bring up family health history during the holidays, by Rebecca Sutphen, KevinMD Blog, Dec 8
Attitudes toward genetic testing for hypertension among African American women and girls
Taylor JY, et al. Nurs Res Pract 2013;2013:341374
Distinct communication patterns during genetic counseling for late-onset Alzheimer's risk assessment
Lerner B, et al. Patient Educ Couns 2013 Nov
On best practices: The Institute of Medicine scheme for developing, validating, and demonstrating clinical utility of omics-based diagnostic and predictive tests
Omenn GS Proteomics Clin Appl 2013 Dec;7(11-12):748-55
Predictive genetic testing, risk communication, and risk perception: an international expert meeting in Berlin, Germany
Fisher E, et al. J Community Genet 2013 Dec
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)
Madhuri Hegde et al. Genetics in Medicine, Dec 5
Canadian guideline on genetic screening for hereditary renal cell cancers
Reaume MN, et al. Can Urol Assoc J 2013 Sep;7(9-10):319-23
Infants at risk due to blood-test delays-delays in processing blood screening samples for newborns could be putting millions of infants at risk for disabilities or even death, National Public Radio Dec 9
Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: Qualitative study of parents' intentions, Views and support needs
Ulph F, et al. J Genet Couns 2013 Dec
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy
Wood MF, et al. Muscle Nerve 2013 Oct
Development of a scalable pharmacogenomic clinical decision support service
Fusaro VA, et al. AMIA Summits Transl Sci Proc 2013;2013:60
Impact of CYP2C19 genetic testing on provider prescribing patterns for antiplatelet therapy after acute coronary syndromes and percutaneous coronary intervention.
Desai NR, Circ Cardiovasc Qual Outcomes. 2013 Nov 1;6(6):694-9.
Integrating pharmacogenetic information and clinical decision support into the electronic health record
Goldspiel BR, et al. J Am Med Inform Assoc 2013 Dec
Pharmacogenetics and coumarin dosing — recalibrating expectations
Zineh I, et al. N Engl J Med 2013; 369:2273-2275 2013 Dec 12
Providing pharmacogenomics clinical decision support using whole genome sequencing data as input
Huser V & Cimino JJ AMIA Summits Transl Sci Proc 2013;2013:81
Hands-on workshops as an effective means of learning advanced technologies including genomics, proteomics and bioinformatics
Reisdorph N, et al. Genomics Proteomics Bioinformatics 2013 Dec
Gene therapy approach for haemoglobinopathies, PHG Foundation, Dec 11
siRNAs: Small molecules that pack a big punch, by Francis Collins, NIH Director's Blog, Dec 11
Insurers question health benefits of some genetic tests, by Michelle Andrews, Kaiser Health News, Dec 10
Qatar Genome launched. Project is road map for future treatment of personalized medicine, by Habib Toumi, Qatar News, Dec 10
Don't count on insurance to pay for genetic tests, by Michelle Andrews, National Public Radio, Dec 10
Driving forward infectious disease genomics, by Christine McCartney , Public Health Matters England, Dec 9
The global impact of genomics: Interview with Stylianos Antonarakis, by Mark Wanner, Genetics and Your Health blog post, Dec 9
Singularity: Reading our genes like computer code, by Jane Wakefield, BBC News, Dec 9
Building the next generation of quantitative biologists.
Pattin KA et al. Pac Symp Biocomput. 2014;19:417-21.
Gene therapy keeps 'Bubble boy' disease at bay in 8 children, by Richard Knox, National Public Radio, Dec 7
Gene therapy -- a technological challenge, but we're good at meeting technological challenges, byAnne Buchanan, The Mermaid Blog, Decr 6
CRISPR for cures? Studies in mice and human stem cells demonstrate that the genome-editing technique CRISPR can correct disease-causing mutations, by Kerry Grens, The Scientist, Dec 5
Education: Genetics in the schoolroom, by Erika Check Hayden, Nature, Dec 4
Genomics boosting cancer war, by Bradley J. Fikes, Biotech, Dec 4
Microbiome candy: Could a probiotic mint help prevent cavities? By Michaeleen Doucleff, National Public Radio, Dec 10
The NHGRI GWAS catalog, a curated resource of SNP-trait associations
Welter D, et al. Nucleic Acids Res 2013 Dec
CDC authors are indicated in bold
Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings
Hinton CF, Mai CT, Nabukera SK, Botto LD, Feuchtbaum L, Romitti PA, Wang Y, Piper KN, Olney RS. Genet Med. 2013 Dec 5
Potential increased risk of cancer from commonly used medications: an umbrella review of meta-analyses.
Ioannidis JP, Zhou Y, Chang CQ, Schully SD, Khoury MJ, Freedman AN. Ann Oncology, December 4, 2013
Elimination of Endemic Measles, Rubella, and Congenital Rubella Syndrome From the Western Hemisphere: The US Experience.
Papania MJ, Wallace GS, Rota PA, Icenogle JP, Fiebelkorn AP, Armstrong GL, Reef SE, Redd SB, Abernathy ES, Barskey AE, Hao L, McLean HQ, Rota JS, Bellini WJ, Seward JF. JAMA Pediatr. 2013 Dec 5.
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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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