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: email@example.com.
Thursday, October 27, 2011 Volume 27 Number 17
New Publication: Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: Summary of a public health/clinical collaborative meeting. Bellcross CA, et al.. Genet Med. 2011 Oct 21.
- Call for Pharmacogenomic Tests Submissions - PLoS Currents Evidence on Genomic Tests
- World Stroke Day 2011
- 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.
PLoS Currents Evidence on Genomic Tests is an open-access online publication that accepts brief evidence summaries based on rapid review of available information on the analytic validity, clinical validity, and clinical utility of genomic tests. A template that illustrates the structure of the articles can be found here. Summaries published in PLoS Currents Evidence on Genomic Tests are permanently archived in PubMedCentral and searchable through PubMed. Potential authors are encouraged to look at the FDA Table of Pharmacogenomic Biomarkers in Drug Labels for ideas on topics to consider. We look forward to receiving your pharmacogenomics article submissions!
Clinical utility gene card for: Multi-minicore disease
Lillis S, et al. Eur J Hum Genet 2011 Oct
Current evidence for genetic testing in clopidogrel-treated patients undergoing coronary stenting
Sibbing D, et al. Circ Cardiovasc Interv 2011 Oct;4(5):505-13
CYP2C19 Genetic Testing Should Not Be Done in All Patients Treated With Clopidogrel Who Are Undergoing Percutaneous Coronary Intervention
Pare G, et al. Circ Cardiovasc Interv 2011 Oct;4(5):514-21
Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID)
Puck JM, et al. J Clin Immunol 2011 Oct
Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London
Kohut K, et al. Fam Cancer 2011 Oct
Prader-Willi syndrome: A Primer for Clinicians
Cataletto M, et al. Int J Pediatr Endocrinol 2011 Oct;2011(1):12
Valuing Gene Testing in Children with Possible Neurofibromatosis 1
Tsang E, et al. Clin Genet 2011 Oct
EGFR and KRAS quality assurance schemes in pathology: generating normative data for molecular predictive marker analysis in targeted therapy.
Thunnissen E, Bovée JV, Bruinsma H, et al. J Clin Pathol. 2011 Oct;64(10):884-92.
EGFR and KRAS quality assurance schemes in pathology, Medscape, October 25 [by free subscription only]
Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?
Howard HC, et al. Eur J Hum Genet 2011 Nov;19(11):1122-6
Direct-to-consumer pharmacogenomic testing
Howard HC & Borry P Pharmacogenomics 2011 Oct;12(10):1367-70
Legal battle over BRCA1 and BRCA2 patents continues
Am J Med Genet A 2011 Nov;155(11):x-xi
Whole genome sequencing in health services, PHG Foundation
New report: getting ready for genomics in health systems, PHG Foundation, October 25
Report on clinical genome sequencing, Genomes Unzipped, October 25
NHS must prepare for the genetic revolution, report says, BBC News, October 24
How can we move clinical genomics beyond the hype? Urban Institute, October 21
Pharmacogenomic characterization of US FDA-approved cytotoxic drugs
Peters EJ, et al. Pharmacogenomics 2011 Oct;12(10):1407-15
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
Walsh T, Casadei S, Lee MK, et al. Proc Natl Acad Sci U S A. 2011 Oct 17.
Linking of mutations in 12 genes to ovarian cancer may lead to more effective prevention, Medical News Today, October 26
APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy
Kopp JB, Nelson GW, Sampath K, et al. J Am Soc Nephrol. 2011 Oct 13
Gene variant increases risk of kidney disease in African-Americans, NIH News, October 24
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
Raychaudhuri S, Iartchouk O, Chin K, et al. Nat Genet. 2011 Oct 23.
Researchers ID genetic mutation associated with high risk of age-related macular degeneration, EurekAlert, October 24
Combined high-resolution genotyping and geospatial analysis reveals modes of endemic urban typhoid fever transmission
Baker S, Holt K, Clements A, et al. Open Biology 2011 Oct.
Google Earth and genomics tackle typhoid together, PHG Foundation, October 19
CDC authors are indicated in bold
Implementing screening for Lynch syndrome among patients with newly diagnosed with colorectal cancer: Summary of a public health/clinical collaborative meeting.
Bellcross CA, Bedrosian SR, Daniels E, Duquette D, Hampel H, Jasperson K, Joseph DA, Kaye C, Lubin I, Meyer LJ, Reyes M, Scheuner MT, Schully SD, Senter L, Stewart SL, St Pierre J, Westman J, Wise P, Yang VW, Khoury MJ. Genet Med. 2011 Oct 21.
Comparative evaluation of Aptima HIV-1 Qualitative RNA assay performance using plasma and serum specimens from persons with established HIV-1 infection
Ethridge SF, Wesolowski LG, Nasrullah M, Kennedy MS, Delaney KP, Candal D, Owen M. J Clin Virol. 2011 Oct 11.
Serotype and genotype distributions of pneumococcal carriage isolates recovered from Brazilian children attending day-care centres
Pimenta FC, Carvalho M. G., Gertz RE, Bastos-Rocha CG, Oliveira LS, Lacerda Pigosso L, Lima JA, Marquez Franco C, Andrade AL, Beall BW. J Med Microbiol. 2011 Oct;60(Pt 10):1455-9.
Genomics is not enough
Chakravarti A Science 2011 Oct;334(6052):15
Review: Do genome-wide association scans have potential for translation?
Lopes MC, et al. Clin Chem Lab Med 2011 Oct
Ladies and gentlemen, start your sequencers: Genomics X PRIZE takes on a new look, Science Insider, October 26
Longevity's secrets sought in DNA of 100-year-olds, Medical Press, October 26
Dana-Farber, Brigham and Women's launch large-scale genomic database project, EurekAlert, October 24
How will genetic technology shape personalized medicine? Discovery Fit & Health, October 25
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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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