Genomics & Health Impact Update
Volume 33 Number 5 August 7-14, 2014About the Update
Association for State and Territorial Health Officials Annual Meeting and Policy Summit.
September 9-11, 2014 ~ Albuquerque, NM
Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study
Schofl C, et al. J Clin Endocrinol Metab 2014 Aug:jc20142094
Genetic education and sickle cell disease: Feasibility and efficacy of a program tailored to adolescents
Porter JS, et al. J Pediatr Hematol Oncol 2014 Aug
Molecular diagnostic testing by eyeGENE(R).Analysis of patients with hereditary retinal dystrophy phenotype involving central vision loss
Alapati AN, et al. Invest Ophthalmol Vis Sci 2014 Jul
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, et al. Am J Hum Genet. 2014 Jul 29. pii: S0002-9297(14)00312-7.
Having more than one set of DNA carries legacy of risk, The New York Times, Jul 31
Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.
Aizati NA Daud et al. Pharmacogenomics May 2014
BRAF mutation analysis is a valid tool to implement in Lynch syndrome diagnosis in patients classified according to the Bethesda guidelines
Molinari F, et al. Tumori 2014 May-2014 Jun;100(3):315-20
Breast-cancer risk in families with mutations in PALB2
Antoniou AC, et al. New England Journal of Medicine 2014 Aug 13
Study shows third gene as indicator for breast cancer, by Nicholas Bakalar, The New York Times, Aug 6
Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
Gronwald J et al, Breast Cancer Res Treat. 2014 Jul;146(2):421-7.
Economic assesment of the routine use of Oncotype DX assay for early breast cancer in Franche-Comte region
Nerich V, et al. Bull Cancer 2014 Aug;101(7-8):681-9
Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia
Bernardes CM, et al. Aust N Z J Public Health 2014 Aug;38(4):344-8
Fourfold increased detection of Lynch syndrome by raising age limit for tumour genetic testing from 50 to 70 years is cost-effective.
Sie AS, et al. Ann Oncol. 2014 Jul 31
Knowledge and attitudes of oncology nurses regarding pharmacogenomic testing
Dodson C Clin J Oncol Nurs 2014 Aug;18(4):E64-E70
Identification and replication of a combined epigenetic and genetic biomarker predicting suicide and suicidal behaviors
Jerry Guintivano et al. AM J Psychiatry, July 31, 2014
Meta-analysis of the association between lumican gene polymorphisms and susceptibility to high myopia.
He M, Wang W, et al PLoS One. 2014 Jun 23;9(6):e98748.
Piecing together the puzzle of coronary artery disease.
Esther Lau. Nature Reviews Genetics, August 5, 2014
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants
Alcalay RN, et al. Genet Med 2014 Aug;16(8):644-5
Familial clustering of ESRD in the Norwegian population
Skrunes R, et al. Clin J Am Soc Nephrol 2014 Aug
Family health information sharing among older adults: reaching more family members
Ashida S & Schafer EJ J Community Genet 2014 Jul
A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha et al. Nature Genetics, August 3, 2014
Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding.
Susanne B Haga et al. Genome Medicine, July 31, 2014
Genetics patients' perspectives on clinical genomic testing.
McGowan ML, et al. Per Med. 2013 Jun 1;10(4):339-347.
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Elaine Lyon PhD et al. Genetics in Medicine, July 31, 2014.
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: Implications for the return of incidental results.
Tabor HK, et al. Am J Hum Genet. 2014 Jul 30. pii: S0002-9297(14)00315-2.
NIH seeks to illuminate the druggable genome with new project, GEN News Highlights, Jul 31
A proteomics approach to the identification of plasma biomarkers for latent tuberculosis infection
Zhang X, et al. Diag Microbiol Infect Dis 2014; 79(4): 432-437.
African genetic ancestry is associated with a protective effect on Dengue severity in Colombian populations
Chacon-Duque JC, et al. Infect Genet Evol 2014; 27:89-95.
From genome to a vaccine against Trypanosoma cruzi by immunoinformatics
Teh-Poot C, et al. J Infect Dis, Jul 28, 2014.
Neglected tropical diseases, bioinformatics and vaccines
Rodrigues MM, Ersching J. J Infect Dis, Jul 28, 2014.
Recent advances in genomic DNA sequencing of microbial species from single cells.
Roger S. Lasken et al. Nature Reviews Genetics, August 5, 2014
Whole-genome sequencing to control antimicrobial resistance.
Claudio U. Köser. et al. Trends in Genetics, August 3, 2014
Whole-genome sequencing expected to revolutionize outbreak investigations, by James Andrews, Food Safety News, Jul 30
Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms
Vernooij-van Langen AM, et al. Mol Genet Metab 2014 Jul
Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning
Therrell BL Jr, et al. Mol Genet Metab 2014 Jul
State to resume indefinite storage of newborn health data, by Lorna Benson, MPR News, Aug 1
Genetic variants associated with phenytoin-related severe cutaneous adverse reactions
Wen-Hung Chung et al. JAMA, August 6, 2014
Patient acceptance of non-invasive testing for fetal aneuploidy via cell-free fetal DNA
Vahanian SA, et al. J Matern Fetal Neonatal Med 2014 Jan;27(1):106-9
UK plans to expand pregnancy screening for genetic disorders, PHG Foundation, Aug 5
Undiagnosed diseases network: Solving medical mysteries, by Eric D. Green, Director, National Human Genome Research Institute, Aug 5
When we are all uninsured: Rethinking reimbursement, by Bryce Mendlesohn, Genome Mag, Aug 5
Earlier pregnancy screening move for genetic problems, by Smitha Mundasad, BBC News, Aug 4
Population whole-genome sequencing: Dutch Edition, by Dan Koboldt, Mass Genomics, Aug 4
Rare disease plans move forward in the UK and beyond, by Rebecca Burbidge, PHG Foundation, Aug 4
Britain launches huge genome project to beat cancer, Medscape, Aug 1
Genetic disorders: 'It is devastating to watch your child lose every ability', by Ian Sample, The Guardian, Aug 1
NGS ready for clinical oncology testing, GEN, Aug 1
The missing link to rheumatoid arthritis might be in your gut microbiome, Individualized Medicine Blog, Aug 1
Will big data answer big questions on health? Science Friday, Aug 1
What do we miss with exome sequencing? MacArthur Lab, Jul 21
Epiviz: interactive visual analytics for functional genomics data.
Chelaru F, et al. Nat Methods. 2014 Aug 3.
Phen-Gen: combining phenotype and genotype to analyze rare disorders [PDF 353.43 KB]
Asif Javed, et al. Nature Methods, August 3, 2014
CDC authors are indicated in bold
Biomarker correlates of survival in pediatric patients with Ebola virus disease
Anita K. McElroy, Bobbie R. Erickson, Timothy D. Flietstra, Pierre E. Rollin, Stuart T. Nichol, Jonathan S. Towner, and Christina F. Spiropoulou Emerg Infect Dis, Oct 2014.
Suitability of the molecular subtyping methods intergenic spacer region, direct genome restriction analysis, and pulsed-field gel electrophoresis for clinical and environmental Vibrio parahaemolyticus isolates
Ludeke CH, Fischer M, LaFon P, Cooper K, Jones JL. Foodborne Pathog Dis. 2014 Jul;11(7):520-8.
Multicenter feasibility study to assess external quality assessment panels for Xpert MTB/RIF assay in South Africa
Scott L, Albert H, Gilpin C, Alexander H, DeGruy K, Stevens W. J Clin Microbiol. 2014 Jul;52(7):2493-9.
Full-length genome characterization and genetic relatedness analysis of hepatitis A virus outbreak strains associated with acute liver failure among children
Vaughan G1, Forbi JC, Xia GL, Fonseca-Ford M, Vazquez R, Khudyakov YE, Montiel S, Waterman S, Alpuche C, Gonçalves Rossi LM, Luna N. J Med Virol. 2014;86(2):202-8.
Polymorphisms in Plasmodium falciparum Chloroquine Resistance Transporter and Multidrug Resistance 1 Genes: Parasite Risk Factors that Affect Treatment Outcomes for P. falciparum Malaria after Artemether-Lumefantrine and Artesunate-Amodiaquine.
Venkatesan M, Gadalla NB, Stepniewska K, … Thwing J, … Zongo I, Plowe CV, Sibley CH. Am J Trop Med Hyg. 2014 Jul 21. pii: 14-0031.
Reference panel of cloned HIV-2 plasmid DNA for nucleic acid assay development, evaluation, and quality monitoring.
Youngpairoj AS, Curtis KA, Wells SK, Pau CP, Granade TC, Owen SM. J Clin Virol. 2014 Jul 7. pii: S1386-6532(14)00261-3.
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